- Indications for Genetic Evaluation
- Indications for Chromosome Analysis in Assisted Fertilization
- Guidelines for Genetic Screening to Detect Heterozygotes (Carrier Detection)
- Number Needed to Screen (NNS)
- Detection of Maternal Cell Contamination Affecting Genetic Analysis
- Ethical Guidelines of Ross and Moon for Genetic Testing of a Child
- Data of Macpherson et al for Predicting the Probability of Successful In Vitro Tissue Culture Growth from a Stillborn Fetus or Newborn Infant
- Indications to Screen for Subtelomeric Defects in a Patient with Mental Retardation
- General Characteristics of Genetic Disorders With Mendelian Inheritance
- Hardy-Weinberg Formula
- Direct Count of Gene Frequencies
- Risk of Huntington's Chorea in a Healthy First Degree Relative with an Affected Parent
- Risk of Huntington's Chorea in a Healthy Second Degree Relative with Unaffected Parent
- Age of Onset of Huntington's Chorea Based on the CAG Repeat Size
- Cognitive and Psychiatric Manifestations of Huntington's Chorea
- Clinical Features of Huntington Disease-Like 2 (HDL2)
- Clinical Featurs of Huntington Disease (HD)
- Implications of the Number of CAG Repeats in an HTT Allele
- Equation of Friedman for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History
- Equation of Young for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History
- Recurrence Risk for Germinal Mosaics
- Estimating the Risk of Recurrence in a Relative When One Person Affected
- Predicting Risk of Recurrence for Congenital Heart Disease
- Risk of Recurrence for Down's Syndrome in the Offspring of a Woman with a Previously Affected Infant
- Risk of Recurrence of a Cleft Lip and/or Palate
- Predicting Risk of Recurrence in Hirschsprung's Disease
- Recurrence Risk of Pyloric Stenosis
- Risk of Recurrence of Achondroplasia
- Empiric Risk of Retinoblastoma in the Offspring of a Patient with a Family History of Retinoblastoma
- Probability of an RB1 Germline Mutation in a Proband with Retinoblastoma
- Use of Bayes Theorem to Calculate the Risk of Being a Carrier
- Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Sons
- Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Grandsons
- Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman with One Affected Son
- Calculating the Lod Score from Family Data with Phase Known Meioses
- Calculating the Lod Score from Family Data with Phase Unknown Meioses
- Calculating the Number of Recombination Events Over the Total Number of Meioses Using the Maximum Lod Score
- Mapping Functions of Haldane and Kosambi
- Addition of Adjacent Intervals in Genetic Maps
- Li-Mantel Method for Correction of Truncate Ascertainment in Families with Two Offspring
- Sib Method for Correction of Single Ascertainment
- Frequency of Autosomal Recessive Disease in Consanguineous Mating
- Evaluating a Child for Evidence of Incest Based on the Number of Homozygous Alleles
- Evaluation of a Mother and Offspring for Evidence of Incest Based on Analysis of Alleles at Highly Heterozygous Loci
- Indications for Screening a Patient for Birt-Hogg-Dube Syndrome
- Clinical Features of Birt-Hogg-Dube Syndrome (BHDS)
- Clinical Features of the Kartagener Syndrome (Primary Ciliary Dyskinesia Syndrome)
- Clinical Features of the 3-M Syndrome
- Clinical Features of the Gomez-Lopez-Hernandez Syndrome
- Clinical Features of Mowat-Wilson Syndrome (MWS)
- Clinical Features of Acrocephalopolysyndactyly Type II (Carpenter Syndrome)
- Clinical Features of the Alpha-Thalassemia X-Linked Mental Retardation (ATRX) Syndrome
- Clinical Features of the Coffin-Lowry Syndrome (CLS)
- Clinical Features of Oculocerebrorenal Syndrome (Lowe Syndrome, OCRS) in Males
- Clinical Features of Lujan Syndrome (Lujan-Fryns Syndrome, X-Linked Mental Retardation with Marfanoid Habitus)
- Clinical Features of FG Syndrome Type 1 (FGS1, Opitz-Kaveggia Syndrome)
- Clinical Features of the Nance-Horan Syndrome (NHS)
- Clinical Features of the Ligase IV Syndrome
- Differential Diagnosis of the Ligase IV Syndrome
- Criteria for the Diagnosis of Pseudoxanthoma Elasticum
- Skin Biopsy to Support the Diagnosis of Pseudoxanthoma Elasticum in a Patient Without Characteristic Skin Lesions
- Clinical Features of Piebaldism
- Indirect Estimation of Mutation Rates
- Clinical Features of Jeune Syndrome (Asphyxiating Thoracic Dystrophy, ATD)
- Clinical Features of the Bart Pumphrey Syndrome
- Diagnostic Criteria of the Scientific Advisory Committee of the U.S. Angelman Syndrome Foundation
- Diagnostic Approach of Van Buggenhout and Fryns for Identifying the Genetic Defect Causing Angelman's Syndrome in a Patient
- When to Suspect the Presence of Kallmann Syndrome
- Kallmann Syndrome Associated with a Mutation in KAL1
- Kallmann Syndrome Associated with a Mutation in KAL2
- Clinical Features of the PHACE Syndrome
- Diagnostic Criteria of the American Academy of Pediatrics for the PHACE Syndrome
- MELAS Syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke)
- GRACILE Syndrome Associated with a Mutation in BCS1L
- Bjornstad Syndrome Associated with a Mutation in BCS1L
- Phenotypic Findings Associated with Mitochondrial Complex III Deficiency (Ubiquinol Cytochrome C Reductase Deficiency)
- Clinical Features of the Shwachman-Diamond Syndrome
- Diagnostic Criteria of Dror and Freedman for Shwachman-Diamond Syndrome
- Clinical Features of Peters’-Plus Syndrome
- Clinical Features of the MICRO Syndrome
- Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) Syndrome
- Clinical Features of Marinesco-Sjogren Syndrome
- Paternity Index (PI)
- Probability of Paternity Using the Paternity Index
- Determining the Paternity Index With the Mother Unavailable
- Random Male Not Excluded (RMNE)
- Avuncular Index (AI)
- Criteria of McDermott et al for the Holt-Oram Syndrome Associated with TBX5
- Clinical Features of the Duane-Radial Ray Syndrome (DRRS, Okihiro Syndrome)
- Clinical Features of the Acro-Renal-Ocular Syndrome (AROS)
- Additional Cliinical Findings Seen in Patients with SALL4 Mutations
- Schopf-Schulz-Passarge Syndrome (SSPS) Associated with Mutations in WNT10A
- Focal Dermal Hypoplasia (Goltz Syndrome) with Mutations in PORCN
- Hypohidrotic or Anhidrotic Ectodermal Dysplasia
- Ectodermal Dysplasia with Anhidrosis and T-cell Immunodeficiency Related to Mutations in NFKBIA
- X-Linked Anhidrotic/Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Associated with a Point Mutation in NEMO
- Clinical Features of the Zimmerman-Laband Syndrome
- Criteria of Spinner et al for the Clinical Diagnosis of Alagille Syndrome (AGS)
- Clinical Features of the Hallervorden-Spatz Syndrome (HSS)
- Craniofacial Features of the KPG Syndrome
- Skeletal and Developmental Features of the KPG Syndrome
- Clinical Features of Bamforth Syndrome
- Population Frequency in an X-Linked Recessive Condition
- Estimating Gene Frequencies at Equilibrium When Being a Heterozygote is an Advantage Over Being Homozygote for a Trait
- Indications for Genetic Testing of a Patient for the Fragile X Syndrome
- Number of Cells Required for Cytogenetic Analysis in Patients with the Fragile X Syndrome
- Clinical Features of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Fragile X-Associated Primary Ovarian Insufficiency (POI)
- Clinical Findings in a Male with Fragile X Syndrome
- Fragile XE Syndrome Associated with Mutations in FMR2 (FRAXE)
- Checklist of De Vries et al for Identification of Patients with Submicroscopic Subtelomeric Rearrangements
- Risk Factors of Chou and Chang for Mental Retardation in a Patient with the Tuberous Sclerosis Complex (TSC)
- Logistic Distribution Curve for Age-of-Onset and Penetrance
- Risk of Developing an Autosomal Dominant Disease If Unaffected and Cumulative Risk Known
- Diagnosis of the Prader-Willi Syndrome
- Consensus Diagnostic Criteria of Holm et al for Prader-Willi Syndrome
- Indications of Gunay-Aygun et al for DNA Testing of a Patient for Prader-Willi Syndrome
- Criteria for the Diagnosis of Klinefelter's Syndrome
- Screening Criteria of Kamischke et al for Identifying a Man Who Should Be Tested for Klinefelter's Syndrome
- Risk for Cancer Mortality in a Patient with Klinefelter's Syndrome
- Segmental Fraction of the Haploid Autosomal Length (HAL)
- Y Chromosome Microdeletions Associated with Infertility
- Confidence Limits in the Percent Mosaicism Excluded When a Number of Cells Are Analyzed
- Criteria for the Diagnosis of Proteus Syndrome
- Heterozygosity Index (H or Het) for a Genetic Marker
- Polymorphism Information Content (PIC)
- Sibship Index (SI)
- Cumulative Sibling Index (CSI)
- The Phenotypic Impact of a Mendelian Disease Scoring System
- Indications for Evaluating a Person for Marfan Syndrome
- Criteria for the Diagnosis of Marfan Syndrome
- MASS Phenotype
- Hand Signs of Marfan Syndrome and Related Connective Tissue Disorders (Thumb Sign, Walker-Murdoch Wrist Sign)
- Differential Diagnosis of Pulmonary Disease in a Patient with Marfan's Syndrome
- Partial Deletion of 5p and the Cri du Chat Syndrome
- Partial Deletion of 4p and the Wolf-Hirschhorn Syndrome
- 22q13.3 Microdeletion Syndrome (Phelan-McDermid Syndrome)
- Deletion 3p Syndrome (Verjaal-De Nef Syndrome)
- 22q11.2 Microdeletion Syndrome (DiGeorge, Velo-Cardio-Facial, Shprintzen)
- Clinical Features of 13q Deletion Syndrome
- Clinical Features of 18p Deletion Syndrome
- Clinical Features of 18q Deletion Syndrome
- Clinical Features of the 4q Deletion Syndrome
- Clinical Features of the 8q22.1 Microdeletion Syndrome (Nablus Mask-Like Facial Syndrome)
- Clinical Features of the 7q11.23 Microdeletion Syndrome (Williams-Beuren Syndrome, WBS)
- CATCH22 Syndrome
- The Curacao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia
- Genetic Loci Associated with Hereditary Hemorrhagic Telangiectasia (HHT)
- Diagnostic Criteria of Rose et al for Stickler Syndrome
- Diagnostic Criteria of Nakura et al for Werner Syndrome
- Diagnosis of the VATER/VACTERL Association
- Criteria for the Classical Ehlers-Danlos Syndrome (EDS I and II)
- Criteria for the Hypermobility Type of Ehlers-Danlos Syndrome (EDS III)
- Criteria for the Vascular Type of Ehlers-Danlos Syndrome (EDS IV)
- Criteria for the Kyphoscoliosis Type of Ehlers-Danlos Syndrome (EDS VI)
- Criteria for the Arthrochalasia Type of Ehlers-Danlos Syndrome (EDS VIIA and VIIB)
- Criteria for the Dermatosparaxis Type of Ehlers-Danlos Syndrome (EDS VIIC)
- Classification of Sillence et al for Osteogenesis Imperfecta
- Factors of Englebert et al for Predicting the Ability to Walk in Patients with Osteogenesis Imperfecta
- Clinical Diagnosis of an Infant with the Beckwith-Wiedemann Syndrome
- Criteria of Weksberg et al for Beckwith-Wiedermann Syndrome
- Trisomy 18 Score of Marion et al
- Phenotypic Features of Trisomy 13 (Patau Syndrome)
- Phenotypic Features of Trisomy 21 (Down's Syndrome)
- Diagnostic Index of Preus for Down Syndrome
- Anthropometric Craniofacial (Cephalometric) Pattern Profile of Allanson et al for Down Syndrome
- Clinical Features of Trisomy 22
- Diagnostic Features of the Russell-Silver Syndrome
- Phenotypic Features of Patients with Noonan Syndrome
- Clinical Features of Turner Syndrome
- Reasons Why Chromosomal Studies Are Performed on a Patient with Turner Syndrome
- Score of Auerbach et al for Fanconi's Anemia Based on the International Fanconi Anemia Registry (IFAR)
- Congenital Abnormality Score of Rosenberg et al for Predicting Bone Marrow Failure in Fanconi Anemia
- Diagnostic Criteria for the CHARGE Association
- The OMENS (Orbit, Mandible, Ear, Nerve, Soft Tissue) Classification for Hemifacial Microsomia
- Algorithm of Elsea and Girirajan for Diagnosis of the Smith-Magenis Syndrome
- Clinical Features of the Smith-Magenis Syndrome Associated with a 17p11.2 Deletion
- Clinical Features of the Smith-Magenis Syndrome Associated with a RAI1 Mutation
- Diagnostic Features of the Treacher-Collins Syndrome
- Clinical Criteria for the Diagnosis of Rett Syndrome
- Model of Jian et al for the Onset of Seizures in a Patient with Rett Syndrome
- Diagnostic Criteria of the Waardenburg Consortium for Waardenburg Syndrome Types 1 and 2
- Ocular Measurements (W Index) for Identification of Dystopia Canthorum in Waardenburg Syndrome
- Phenotypic Features of Achondroplasia
- Phenotypic Features of Sotos Syndrome (Cerebral Gigantism)
- Phenotypes of Gennarelli et al in Myotonic Dystrophy
- Posterior Probability of Myotonic Dystrophy Phenotype Based on CTG Number
- Guidelines of the International Myotonic Dystrophy Consortium for Genetic Testing in Myotonic Dystrophy
- Algorithm of Bushby et al for Detecting a Patient with Duchenne's Muscular Dystrophy (DMD)
- Clinical Features of Facioscapulohumeral Dystrophy (FSHD)
- Clinical Features of Emery-Dreifuss Muscular Dystophy
- Clinical Features of the Dystrophinopathies (Duchenne's and Becker's Muscular Dystrophies)
- Clinical Features of Oculopharyngeal Muscular Dystrophy
- Clinical Features of the Distal Dystrophy of Welander
- Clinical Features of the Limb Girdle Muscular Dystrophies (LGMD)
- Clinical Findings in a Patient with Alkaptonuria
- Conditions Other Than Alkaptonuria Associated with Ochronosis
- Clinical Features of Fabry Disease (Deficiency of alpha-Galactosidase A)
- Clinical Features of Mucopolysaccharidosis Type I (MPS I, Hurler, Hurler-Scheie, Scheie Syndromes)
- Clinical Phenotypes of Gaucher Disease
- Radiologic Stages of Bone Lesions in Patients with Gaucher Disease Type 1
- Clinical Features of Niemann-Pick Disease Type A Phenotype
- Clinical Features of Niemann-Pick Disease Type B Phenotype
- Clinical Features of the Classic Niemann-Pick Disease Type C Phenotype
- Staging System of Escolar et al for Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
- Clinical Stages of Escolar et al for Progression in a Patient with Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
- Indications for Enzyme Replacement Therapy with Imiglucerase in a Patient with Type I Gaucher's Disease
- Severity Scoring Index of Zimran et al for a Patient with Gaucher's Disease
- Spanish MRI (S-MRI) for Evaluating Bone Marrow Involvement in a Patient with Gaucher's Disease
- Clinical Features of Juvenile Neuronal Ceroid Lipofuscinosis (Batten's Disease)
- Mainz Severity Score Index (MSSI) for a Patient with Fabry Disease
- Juvenile, Adolescent and Adult Presentations of Krabbe Disease
- Clinical Features of the Hermansky-Pudlak Syndrome
- Clinical Features of Tyrosinase-Deficient Oculocutaneous Albinism (OCA1)
- Clinical Features of P-Related Oculocutaneous Albinism (OCA2)
- Oculocerebral Syndrome with Hypopigmentation (Cross Syndrome, Kramer Syndrome)
- Clinical Findings in a Patient with Refsum Disease
- Patients Who Should Be Screened for Bloom Syndrome
- Clinical Features of Hereditary Fructose Intolerance
- Clinical Features of Classical Galactosemia (Deficiency of Galactose-1-Phosphate Uridyltransferase, GALT)
- Clinical Features of Xeroderma Pigmentosum
- Clinical Features of Cockayne Syndrome
- Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome
- Clinical Features of Chediak-Higashi Syndrome
- Clinical Features of the Bernard-Soulier Syndrome
- Clinical Features of the Montreal Platelet Syndrome
- The May-Hegglin Anomaly and Fechtner Syndrome
- Clinical Features of Glanzmann's Thrombasthenia
- Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Syndromic Features
- Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Nonsyndromic Features
- Thrombocytopenia with Absent Radii (TAR) Syndrome
- Congenital Amegakaryocytic Thrombocytopenia (CAMT)
- Harris Platelet Syndrome (Asymptomatic Constitutional Macrothrombocytopenia)
- Clinical Features of Ataxia-Telangiectasia (A-T)
- Criteria of Landy and Donnai for the Diagnosis of Incontinentia Pigmenti in a Patient with a First Degree Female Relative with Inontinentia Pigmenti
- Criteria of Landy and Donnai for the Diagnosis of Sporadic Incontinentia Pigmenti
- Stages of Cutaneous Lesions in Incontinentia Pigmenti
- Clinical Features of the 7q11.23 Microduplication Syndrome (Williams-Beuren Region Duplication Syndrome)
- Clinical Features of the MECP2 Duplication Syndrome
- Clinical Features of the 22q11.2 Duplication Syndrome
- Clinical Features of the Cat-Eye Syndrome (CES)
- Clinical Features of Emanuel Syndrome with der(22)
- Clinical Features of the Potocki-Lupski Syndrome (17p11.2 Duplication Syndrome)
- Drumsticks and Other Nuclear Changes in White Blood Cells Associated with Gender
- Barr Body (Sex Chromatin in Somatic Cells)
- Clinical Features of the Lesch-Nyhan Disease
- Clinical Features of Abetalipoproteinemia
- Clinical Features of Familial Lipoprotein Lipase (LPL) Deficiency
- Clinical Stages of Hagberg for Infantile Metachromatic Leukodystrophy
- Clinical Features of the Aarskog-Scott Syndrome
- Clinical Features of Holocarboxylase Synthetase Deficiency
- Clinical Features of Biotinidase Deficiency
- IPEX Syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked Syndrome)
- Clinical Features of Familial Dysautonomia (Riley-Day Syndrome)
- The Dysautonomic Crisis in Familial Dysautonomia
- Congenital Insensitivity to Pain with Anhidrosis (CIPA)
- Clinical Features of Meckel-Gruber Syndrome
- Clinical Features of the McCune-Albright Syndrome (Osteitis Fibrosa Cystica)
- Clinical Features of Albright's Hereditary Osteodystrophy (AHO, Pseudohypoparathryoidism Ia, Pseudo-Pseudohypoparathyroidism)
- Clinical Features of Craniofacial Fibrous Dysplasia
- Prognostic Factors of Park et al Following Resection of Craniofacial Fibrous Dysplasia
- Criteria of Maria et al for Joubert Syndrome
- Criteria of Saraiva and Baraitser for Joubert Syndrome
- Criteria of Parisi et al for Joubert Syndrome
- Diagnostic Strategy of Parisi et al for a Patient with Possible Joubert Syndrome
- COACH Syndrome (Joubert Syndrome with Congenital Hepatic Fibrosis)
- Criteria of Chandler et al for Cohen Syndrome
- Criteria of Kolehmainen et al for Cohen Syndrome
- Clinical Features of the LEOPARD Syndrome
- Criteria of Lurie and Wulfsberg for the Holoprosencephaly-Polydactyly Syndrome
- Diagnostic Criteria of Dobyns et al for the Walker-Warburg Syndrome
- Classification of Dobyns et al for Lissencephaly Type I Based on Gross Neuroanatomy
- Clinical and Laboratory Features of the Miller-Dieker Syndrome (MDS)
- Clinical Features of X-Linked Lissencephaly with Abnormal Genitalia (XLAG)
- Criteria of Wang and Plon for the Rothmund-Thomson Syndrome
- Clinical Features of RAPADILINO
- Criteria of Van Maldergem for Baller-Gerold Syndrome (BGS)
- Criteria of Angelova-Fischer et al for Kindler Syndrome
- Clinical Features of Spencer et al for Barth Syndrome
- Clinical Features of Mulibrey Nanism
- Diagnostic Features of the Smith-Lemli-Opitz Syndrome
- Clinical and Laboratory Features of the Smith-Lemli-Opitz Syndrome
- Types of the Smith-Lemli-Opitz Syndrome
- Clinical Features of Seckel Syndrome
- Clinical Features of the Rubinstein-Taybi Syndrome
- Algorithm of Hennekam for the Diagnosis of Rubinstein-Tabyi Syndrome
- Clinical Features of Menkes Syndrome
- Neurological Score of Baumann et al a Patient with X-Linked Adrenoleukodystrophy
- Clinical Features of Costello Syndrome
- Clinical Features of the Hutchinson-Gilford Progeria Syndrome
- Phenotypic Features of the Brachmann-De Lange Syndrome (BDLS)
- Criteria of Ireland et al for Avoiding the Misdiagnosis of Brachmann-De Lange Syndrome
- Clinical Features in the Mild Expression of the Brachmann-de Lange Syndrome
- Criteria for the Diagnosis of Spinal Muscular Atrophy
- Phenotypic Classification of Spinal Muscular Atrophy
- Criteria of North et al for Congenital Nemaline Myopathy
- Clinical Phenotypes of Congenital Nemaline Myopathy
- Phenotypic Features of Loeys-Dietz Syndrome Type I
- Phenotypic Features of Loeys-Dietz Syndrome Type II
- Craniofacial Severity Index for a Patient with Loeys-Dietz Syndrome
- Clinical Features of Loeys-Dietz Syndrome (LDS)
- Clinical Features of the Nijmegen Breakage Syndrome
- Criteria of Aylsworth for the Diagnosis of Townes-Brocks Syndrome
- Clinical Features of Townes-Brocks Syndrome
- Clinical Features of the Branchio-Oto-Renal Syndrome
- Clinical Features of Pendred Syndrome (Hereditary Goiter and Hearing Loss)
- Clinical Features of Oculodentodigital Dysplasia
- Criteria of Biesecker for Diagnosis of the Greig Cephalopolysyndactyly Syndrome (GCPS)
- Clinical Features of the Pallister-Hall Syndrome
- Clinical Features of Milroy's Disease (Hereditary Congenital Lymphedema. Primary Lymphedema)
- Clinical Features of Hereditary Lymphedema-Distichiasis
- Clinical Features of the Johanson-Blizzard Syndrome
- Clinical Features of Crouzon Syndrome
- Crouzon Syndrome with Acanthosis Nigricans (CAN)
- Severe Achondroplasia with Development Delay and Acanthosis Nigricans (SADDAN)
- Clinical Features of Muenke Syndrome (FGFR3-Associated Coronal Craniosynostosis)
- Clinical Features of Pfeiffer Syndrome Type 1 (Classic Pfeiffer Syndrome)
- Clinical Features of Pfeiffer Syndrome Types 2 and 3
- Autosomal Dominant Familial Hypertension with Short Stature and Brachydactyly
- Groll-Hirschowitz Syndrome (GHS)
- Clinical Findings Associated with the Schinzel-Giedion Syndrome (SGS)
- Clinical Features of the 47,XYY Syndrome
- Clinical Features of 48,XXXX (Tetra-X)
- Clinical Features of Hajdu-Cheney Syndrome (HCS)
- Clinical Features of Tetrasomy 12p (Pallister-Killian Syndrome)
- Six-Item Checklist of Giangreco et al to Screen a Child for Fragile X Syndrome
- Checklist of Limprasert et al for Screening Thai Boys for the Fragile X Syndrome
- Clinical Features of Trisomy 12p Syndrome
- Diagnostic Criteria of van der Burgt et al for Noonan Syndrome
- Mnemonic Screening Tool of Cohn et al for a Patient with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)
- Bone Crises in Gaucher Disease
- Therapeutic Goals for a Child with Gaucher Disease: Hepatomegaly and Splenomegaly
- Therapeutic Goals for a Child with Gaucher Disease: Growth and Skeletal Bone
- Therapeutic Goals for a Child with Gaucher Disease: Hematologic Parameters
- The Pediatric Gaucher Severity Scoring System (PGS3) of Kallish and Kaplan for Type 1 Gaucher Disease
- Gray Platelet Syndrome (GPS)
- Autosomal Dominant Thrombocytopenia on Human Chromosome 10 (THC2)
- Pearson Marrow-Pancreas Syndrome
- Establishing Paternity When the Purported Father Has Died
- L1 Syndrome: MASA Phenotype
- L1 Syndrome: Hydrocephalus due to Stenosis of the Aqueduct of Sylvius (HSAS) Phenotype
- L1 Syndrome: X-Linked Complicated Corpus Callosum Agenesis Syndrome (CCCA) Phenotype (CRASH Syndrome)
- L1 Syndrome: X-Linked Complicated Hereditary Spastic Paraplegia Type 1
- Neuroimaging Findings Associated with the L1 Syndrome
- Clinical Features of the Al-Awadi/Raas-Rothschild (AARR) Syndrome
- Clinical Features of Nager Acrofacial Dysostosis (NAD)
- Vasculopathy Associated with Mutations in ADA2
- Clinical Features of Battaglia-Neri Syndrome
- Clinical Features of Char Syndrome
- Differential Diagnosis of Heart-Hand Syndrome
- Clinical Features of Fryns Syndrome
- Clinical Features of Dubowitz Syndrome
- ROR2-Related Autosomal Recessive Robinow Syndrome
- Clinical Findings in a Patient with Untreated Hereditary Tyrosinemia Type I
- Clinical Features of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome
- Phenotypic Spectrum in Lesch-Nyhan Disease
- Citrin Deficiency: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)
- Citrin Deficiency: Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency (FTTDCD)
- Citrin Deficiency: Citrullinemia Type II (CTLN2)
- Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
- Criteria for the Peters Plus Syndrome (Krause-Kivlin Syndrome)
- Clinical Features of the EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate)
- Clinical Findings in a Patient with Untreated Hereditary Tyrosinemia Type II (Oculocutaneous Tyrosinemia, Richner-Hanhart Syndrome)
- Clinical Features of Uner Tan Syndrome (Quadrupedalism with Other Neurologic Deficits)
- Leri's Pleonosteosis (LP)
- Weill-Marchesani Syndromes (WMS)
- Clinical Features of Geleophysic Dysplasia (GD)
- Clinical Features of Acromicric Dysplasia
- Stiff Skin Syndrome (SSS)
- Clinical Features of Myhre Syndrome (MS)
- Clinical Features of the LAPS Syndrome
- Clinical Features of Allan-Herndon-Dudley Syndrome
- Thyroid Hormone Abnormalities in Allan-Herndon-Dudley Syndrome
- Alexander’s Disease: Neonatal Form
- Alexander’s Disease: Infantile Form
- Alexander’s Disease: Juvenile Form
- Alexander’s Disease: Adult Form (Late Onset)
- MRI Changes of the Brain Associated with Alexander’s Disease
- Clinical Features of the PAGOD Syndrome
- Common Clinical Presentations of Cerebrotendinous Xanthomatosis (CTX)
- Laboratory Findings in Cerebrotendinous Xanthomatosis (CTX)
- Clinical Features of Complete (Nonmosaic) Trisomy 9
- Clinical Features of Mosaic Trisomy 9
- Predictors of Tellier et al for Poor Survival in a Patient with the CHARGE Syndrome
- Diagnostic Criteria of Verloes for the CHARGE Syndrome
- Facial Anomalies Associated with the CHARGE Syndrome
- Diagnostic Criteria of Blake et al for the CHARGE Syndrome
- Clinical Features of Perlman Syndrome (Familial Nephroblastomatosis Syndrome, Overgrowth Syndrome with Wilm’s Tumor)
- Simpson-Golabi-Behmel (SGB) Syndrome Type 1
- Simpson-Golabi-Behmel (SGB) Syndrome Type 2 (Infantile Lethal Variant)
- Clinical Features of Weaver Syndrome
- Quebec Platelet Disorder (QPD)
- Clinical Features of Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
- Clinical Features of Wolman Disease (Infantile Onset Lysosomal Acid Lipase Deficiency, LALD)
- Clinical Features of Cholesterol Ester Storage Disease (CESD, Non-Infantile Lysosomal Acid Lipase Deficiency, LALD)
- Clinical Features of the Floating Harbor Syndrome (FLHS)
- Clinical Features of Feingold Syndrome 1
- Clinical Features of Myoclonic Epilepsy of Unverricht-Lundborg (EPM1)
- Clinical Features of the Nail-Patella Syndrome (NPS)
- Clinical Features of the Lacrimo-Auriculo-Dento-Digitial (LADD) Syndrome
- Clinical Features of Alstrom Syndrome
- Clinical Model of Sheikhzadeh et al for the Evaluating a Patient with Possible Marfan Syndrome
- Criteria for the Diagnosis of Autosomal Dominant Oculopharyngeal Muscular Dystrophy (OPMD, Hereditary Ptosis, Dysphagia and Limb Weakness)
- Short Stature Associated with Mutations in CUL7 in the Yakuts
- Clinical and Laboratory Features of the SOPH (Short Stature, Optic Atrophy, Pelger-Huet Anomaly) Syndrome
- Clinical Features of Beals Syndrome (Congenital Contractural Arachnodactyly, CCA)
- Diagnostic Criteria of Somer for the PEHO Syndrome (Progressive Encephalopathy with Oedema, Hypsarrhythmia, and Optic Atrophy)
- Criteria for Clinical Features of Autosomal Recessive Primary Microcephaly (MCPH)
- Clinical Silver Russell Syndrome (SRS) Score of Bartholdi et al
- Criteria of Netchine et al for the Russell-Silver Syndrome
- Wolcott-Rallison Syndrome (WRS, Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus)
- Genetic Discrimination
- Clinical Severity Score of Pronicka et al for a Patient with a Genetic Defect in CLPB (Caseinolytic Peptidase B)
- Clinical Features Associated with Mutations in CLPB
- MEGDEL Syndrome Associated with Mutations in SERAC1 (3-MGCA Type 4)
- Clinical Features of Sengers Syndrome
- Clinical Features of Leigh Syndrome
- Predictors of Sofou et al for Poor Survival of a Patient with Leigh Syndrome
- Autosomal Dominant Robinow Syndrome
- Clinical Features of Agnathia-Otocephaly
- Clinical Features of STAR Syndrome
- Klippel-Feil Syndrome with Dominant Inheritance (KFS1)
- Klippel-Feil Syndrome with Recessive Inheritance (KFS2)
- Clinical Features of X-Linked Opitz G/BBB Syndrome (XLOS)
- Clinical Features of the Marden-Walker Syndrome
- Phenotypic Spectrum of PIEZO2 Mutations (Marden-Walker Syndrome, Gordon Syndrome, Distal Arthrogryposis Type 5)
- Clinical Features of the Antley-Bixler Syndrome (ABS)
- Clinical Features of Chitayat Syndrome
- ERF-Related Craniosynostosis
- Revised Ghent Criteria for the Diagnosis of Marfan Syndrome
- Systemic Score of the Revised Ghent Criteria for Marfan Syndrome
- Body Span Ratios in Marfan Syndrome
- Abnormal Striae in Marfan Syndrome
- Drugs Associated with Aortic Dissection That Should Be Avoided by a Patient with Marfan's Syndrome
- Clinical Features of Kousseff Syndrome Associated with 22q11.2 Microdeletion
- Autosomal Dominant Opitz-Frias G/BBB Syndrome (ADOS)
- Birmingham Screening Score for Silver-Russell Syndrome (SRS, Russell-Silver Syndrome)
- Criteria of Lai et al for Silver-Russell Syndrome (SRS)
- Clinical Features of the 15q Duplication (dup15q) Syndrome
- Clinical Features of OPA3-Related 3-Methylglutaconic Aciduria (3-MGCA Type 3, Costeff Syndrome)
- Clinical Features of AUH-Related 3-Methylglutaconic Aciduria (3-MGCA Type 1)
- Clinical Features of TMEM70-Related 3-Methylglutaconic Aciduria (3-MGCA Type 4)
- Clinical Features of DNAJC19-Related 3-Methylglutaconic Aciduria (DCMA Syndrome, 3-MGCA Type 5)
- Clinical Features of Bardet-Biedel Syndrome
- Clinical Features of the Coffin-Siris Syndrome (CSS)
- Clinical Features of PHAVER Syndrome
- Clinical Features of PDAC Syndrome (Matthew-Wood Syndrome, Spear Syndrome, Microphthalmic Syndrome 9)
- TBC1D24-Related Disorder: DOOR or DOORS Phenotype
- Clinical Features of Sitosterolemia (Phytosterolemia)
- Measurement of Sterols in the Blood of a Patient with Sitosterolemia
- Clinical Features of the Kabuki Syndrome
- Phenotypic Score of Makrythanasis et al for the Kabuki Syndrome
- Clinical Features of the Floating Harbor Syndrome (FHS)
- Clinical Features of Allgrove Syndrome (AAA Syndrome)
- SAMD9L-Related Ataxia-Pancytopenia Syndrome (ATXPC)
- SAMD9-Related MIRAGE Syndrome
- Ring 14 Syndrome
- Ring Chromosome 20 Syndrome
- Clinical Features of the WAGR Syndrome with Wilm's Tumor and Aniridia
- Familial Monosomy 7 Syndrome
- Conditions Associated with Monosomy 7
- 3q26.33-3q27.2 Microdeletion Syndrome
- Emergencies Associated with Hereditary Hemorrhagic Telangiectasia (HHT)
- Clinical and Laboratory Features of Tangier Disease (Analphalipoproteinemia)
- Clinical and Laboratory Features of Hereditary Lecithin- Cholesterol Acyltransferase (LCAT) Deficiency
- Fish Eye Disease and Partial LCAT Deficiency
- Clinical Features of the DREAM PL Syndrome
- Indications of Yoo for Measuring Plasma Levels of Plant Sterols
- Clinical Features of Borjeson-Forssman-Lehmann Syndrome
- Variant Forms of Borjeson-Forssman-Lehmann Syndrome in Males
- Borjeson-Forssman-Lehmann Syndrome (BFLS) in Females
- Clinical Features of the GOMBO Syndrome
- Clinical Features of 14q Terminal (14qter) Microdeletion Syndrome
- 17q21.31 Microdeletion Syndrome
- Jacobsen Syndrome and Partial Deletion of 11q (del 11qter)
- Clinical Features of tbe Xp21.2 Duplication Syndrome
- Clinical Features of the Pyramidal Molar, Glaucoma, Unusual Upper Lip Syndrome (Ackerman Syndrome)
- Differential Diagnosis of 3-Methylglutaconic (3MGC) Aciduria (3MGCA)
- Synophrys (Unibrow, Monobrow)
- Prognostic Factors of Canafoglia et al for a Patient with Unverricht-Lundborg Disease
- Clinical Features of the Cerebro-Costo-Mandibular Syndrome
- Wolfram Syndrome (DIDMOAD)
- Clinical Features of the SOFT Syndrome
- Brain Lung Thyroid Syndrome (BLTS)
- Monosomy 1p36 (1p36 Deletion Syndrome)
- 9q34.3 Microdeletion and Kleefstra Syndrome
- Microdeletions at 2q33 (SATB2-Associated Syndrome, Glass Syndrome, 2q32-q33 Deletion Syndrome, 2q33.1 Microdeletion Syndrome)
- 15q24 Microdeletion Syndrome
- Clinical Features of 4q21 Microdeletions
- Clinical Features of Microdeletions at 1q41q42
- Clinical Features of Microdeletions at 16p11.2
- Clinical Features of Microdeletions at 1q21.1
- Clinical Features of Microdeletions in 3q29
- Clinical Features of Microdeletions at 17q12
- Clinical Features of Microdeletions at 4q25
- Clinical Features of Microdeletions at 19p13
- Periodontal Ehlers-Danlos Syndrome (Ehlers-Danlos Type VIII)
- 8p23.1 Duplication Syndrome
- Clinical Features of a Duplication at 16p11.2-p12.2
- Ratio of Monolysocardiolipin to Cardiolipin in Barth Syndrome
- P450 Oxidoreductase Deficiency (PORD) Malformation Score of Krone et al
- Clinical Features of PURA Syndrome
- Clinical Features of the Xia Gibbs Syndrome
- Score of Marangi et al for Pitt-Hopkins Score
- Clinical Features of Primrose Syndrome
- Metabolic and Laboratory Findings Associated with Primrose Syndrome
- Clinical Features of the Beaulieu-Boycott-Innes Syndrome (BBIS)
- Clinical Features of the Axenfeld-Rieger Syndrome (ARS)
- Clinical Diagnosis of the Galloway Mowat Syndrome (GMS, GAMOS)
- Clinical Features of Majeed Syndrome
- Clinical Features of the Megacystis Microcolon Hypoperistalsis Syndrome (MMIHS)
- Clinical Features of Netherton Syndrome
- Clinical Features of the CHOPS Syndrome
- Screening for 22q11.2 and 10p13 Deletion Syndromes Using the Mean Platelet Volume to Platelet Count Ratio
- 10p13-p14 Deletion Syndrome
- Malignancies Associated with Fanconi's Anemia
- Malan Syndrome (Sotos Syndrome 2)
- Marshall Smith Syndrome
- Kearns Sayre Syndrome (KSS)
- Mosaic and Complete Tetrasomy 5p
- Clinical Features of Weiss-Kruszka Syndrome (ZNF462 Disorder)
- Clinical Features of the Facial Femoral Syndrome (FFS, Facio-Femoral Syndrome, Femoral Hypoplasia Unusual Facies Syndrome, FH-UFS)
- Clinical Features of the DeSanto-Shinawi Syndrome
- Clinical and Laboratory Findings Associated with Fanconi Anemia
- MECP2 Phenotypes in Males: Severe Neonatal Encephalopathy
- MECP2 Phenotypes in Males: Severe Intellectual Disability or PPM-X Syndrome
- Variant Rett Syndrome in Females
- Variant Rett Syndrome Associated with Mutations in FOXG1 (FOXG1-Related Syndrome)
- Differential Diagnosis of Rett Syndrome
- Variant Rett Syndrome Associated with Mutations in CDKL5
- Clinical Features of Multiple Sulfatase Deficiency (MSD)
- Niemann Pick Suspicion Index of Wijburg et al for Niemann-Pick Type C
- Clinical Features of Apert Syndrome (Acrocephalosyndactyly Type I)
- Frontotemporal Circumference and Intracranial Volume in Craniosynostosis
- Clinical Score of Ebana et al for Birt-Hogg-Dube Syndrome (BHDS)
- Osteopoikilosis (OPK)
- Clinical Features of MTO1 Deficiency, Including ONCE Syndrome
- Kearns-Sayre Syndrome Triad
- Differential Diagnosis of the Silvery Hair Syndrome
- Features Distinguishing Sitosterolemia from Familial Hypercholesterolemia
- Chanarin-Dorfman Syndrome
- Clinical Features of Neurocristopathy with Congenital Central Alveolar Hypoventilation (Ondine-Hirschsprung Syndrome, Haddad Syndrome)
- Biotin or Thiamine Responsive Basal Ganglia Disease (Thiamine Metabolism Dysfunction 2, Biotin or Thiamine Responsive Encephalopathy Type 2, THMD2)
- Syndromes associated with Mutations in SLC25A19 (Thiamine Metabolism Dysfunction Type 4 and Amish Lethal Microcephaly)
- Thiamine Metabolism Dysfunction Syndrome 5 with Episodic Encephalopathy
- Clinical Features of the HIDEA Syndrome
- Clinical Features of Kaufman Oculocerebrofacial Syndrome
- Clinical Features of Elsahy-Waters Syndrome (Brachioskeletogenital Syndrome, BSGS)
- CDH11-Related Teebi Hypertelorism Syndrome (THS)
- Cole-Carpenter Syndrome (CCS)
- CLN3 Disease Staging System (CLN3SS) of Masten et al for a Patient with Batten Disease (Juvenile Ceroid Lipofuscinosis)
- Clinical Features of Severe Neuronopathic Gaucher Disease (Type 2 NGD)
- Mild to Moderate Neuronopathic Gaucher’s Disease (Type 3 NGD)
- Gaucheroma
- Pulmonary Involvement in Gaucher's Disease
- Lymphadenopathy in Gaucher's Disease (Gaucher-Related Lymphatic Involvement)
- 3q29 Duplication/Microduplication Syndrome
- Saethre-Chotzen Syndrome (SCS, Acrocephalosyndactyly Type III)
- Differential Diagnosis of Sensorineural Hearing Loss with Retinitis Pigmentosa
- Binder Phenotype (Maxillo-Nasal Dysplasia)
- Phenotypic Features of Mutations in SCAPER
- Wildervanck Syndrome (Cervico-Oculo-Acousticus Syndrome, COAS)
- Diagnostic Criteria of Tsuboi et al for Perry Disease
- Clinical Features of the Schilbach Rott Syndrome (SRS)
- Clinical Features of Keutel Syndrome
- Stickler Syndrome Type 1 (STL1)
- Stickler Syndrome Type 2 (STL2)
- Stickler Syndrome Type 3 (STL3)
- Stickler Syndrome Type 4 (STL4)
- Stickler Syndrome Type 5 (STL5)
- Features Distinguishing Turner Syndrome from Noonan Syndrome
- Karyotype in Turner Syndrome
- Increased Risk of Autoimmune Disease in a Patient with Turner Syndrome
- Consequences of Growth Hormone Therapy in a Patient with Turner Syndrome
- Diagnosis of Cystinosis
- Nephropathic Cystinosis
- Intermediate Cystinosis
- Extrarenal Manifestations of Cystinosis
- Clinical Features of Severe Neonatal or Infantile Zellweger Spectrum Disorder
- Clinical Features of the Intermediate Phenotype (Childhood Onset) of Zellweger Spectrum Disorder (ZSD)
- Clinical Features of the Mild Phenotype (Adolescent or Adult Onset) of Zellweger Spectrum Disorder (ZSD)
- Criteria of Poretti et al for Oral-Facial-Digital (OFD) Syndrome Type VI
- Criteria of Gupta et al for Pulmonary Involvement in Birt-Hogg-Dube Syndrome (BHDS)
- Criteria of Menko et al for the Diagnosis of Birt-Hogg-Dube Syndrome (BHDS)
- Features Differentiating Birt-Hogg-Dube Syndrome (BHDS) Pulmonary Involvement from Lymphangioleiomyomatosis (LAM)
- Clinical Features of Christianson Syndrome
- Citrullinemia Type I (CTLN1)
- Clinical Features of TANGO2 Deficiency
- Differential Diagnosis of Familial Spontaneous Pneumothorax
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS, Autosomal Recessive Spastic Ataxia Type 6)
- Clinical Features of the Bohring-Opitz Syndrome
- Clinical Features of Danon Disease
- Clinical Features of the Nicolaides-Baraitser Syndrome (NCBRS)
- Clinical Features of the Au-Kline Syndrome (AKS)
- Clinical Features of the Burn-McKeown Syndrome (BMKS)
- Clinical Features of ST3GAL3 Deficiency
- Clinical Features of Cantu Syndrome
- Clinical Features of Baraitser-Winder Cerebrofrontofacial (BWCFF) Syndrome
- Clinical and Laboratory Features of McLeod Neuroacanthocytosis Syndrome
- Prognostic Score of Wahbi et al for Myotonic Dystrophy Type 1 (DM1)
- Paris Trousseau Syndrome
- Urorectal Septum Malformation Sequence (URSMS)
- Clinical Features of Ivemark Syndrome
- Clinical Features of Ivemark II Syndrome
- Clinical Features of SHORT Syndrome
- APDS2 Syndrome Associated with PIK3R1 Mutations
- Clinical Features of Mutations in TTC5
- Sudden Cardiac Death in a Patient with Mutations in EXOSC5
- Neonatal Marfan Syndrome (nMFS)
- PIK3A-Related Overgrowth Syndromes (PROS): CLOVES Syndrome
- Ochronosis Arthroplasty
- CEDNIK Syndrome
- Acro-Dermo-Ungual-Lacrimal-Tooth (ADULT) Syndrome
- Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome 3 (EEC3)
- Ankyloblepharon, Ectodermal Defects, and Cleft Lip/Palate (AEC) Syndrome (Rapp-Hodgkin Syndrome)
- Limb-Mammary Syndrome
- Split Hand/Foot Malformation Type (SHFM4)
- Situs Inversus Totalis
- PIK3A-Related Overgrowth Syndromes (PROS): Megaloencephaly-Capillary Malformation (MCAP) Syndrome
- PIK3A-Related Overgrowth Syndromes (PROS): Fibroadipose Hyperplasia or Overgrowth (FH/FAO)
- PIK3A-Related Overgrowth Syndromes (PROS): Miscellaneous Phenotypes
- PIK3A-Related Overgrowth Syndromes (PROS): Red Flags
- Adermatoglyphia
- Cardiofacioneurodevelopmental Syndrome (CFNDS)
- Clinical Features of White-Sutton Syndrome
- Conradi-Hunermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata Type II, CHHS, CDPX2)
- Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)
- Clinical Features of Ellis-van Creveld Syndrome (EVC, Chondroectodermal Dysplasia)
- Clinical and Laboratory Features of Hartnup Syndrome
- Diagnostic Urine Amino Acid Ratio of Haijes et al for a Patient with Hartnup Disorder
- Hypermanganesemia with Dystonia Type 1
- Hypermanganesemia with Dystonia Type 2 (HMNDYT2, SLC39A14 Deficiency)
- Early Diagnostic Score of Ivanovic et al for Myotonic Dystrophy Type 2 (DM2-EDS)
- Score of Sharawat et al for Identifying a Pediatric Patient with Duchenne or Becker Muscular Dystrophy
- Clinical Features of Myotonic Dystrophy Type 2
- ACTG2 Visceral Myopathy (Familial Visceral Myopathy)