Rare Disease Library

Rare bone development disorder

Rare skeletal development disorder

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XX disorder of gonadal development

46,XX ovotesticular difference of sex development

46,XX ovotesticular disorder of sex development · 46,XX ovotesticular DSD

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY difference of sex development

46,XY disorder of sex development · 46,XY DSD

46,XY disorder of gonadal development

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

FOSL2-related neurodevelopmental disorder

CTCF-related neurodevelopmental disorder

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Difference of sex development

DSD · Disorder of sex development

Difference of sex development of gynecological interest

DSD of gynecological interest · Disorder of sex development of gynecological interest

Fetal alcohol syndrome

ARBD · ARND

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome

TMEM147-related neurodevelopmental disorder

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome

ZNF148-related neurodevelopmental disorder

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related spectrum · GNAO1-related neurodevelopmental disorder

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

GRIN2B-Related Neurodevelopmental Disorder

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome

DYNC1I2-related neurodevelopmental disorder

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

SLC4A10-related neurodevelopmental disorder

Non-specific syndromic intellectual disability

Complex neurodevelopmental disorder

Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome

BRPF1-related neurodevelopmental disorder

Rare choreic movement disorder

Rare corneal disorder

Rare genetic bone development disorder

Rare genetic skeletal development disorder

Rare genetic movement disorder

Rare movement disorder

Rare paroxysmal movement disorder

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Rare retinal disorder