Rare Disease Library

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

CHD4-related neurodevelopmental disorder

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

Chondrodysplasia-difference of sex development syndrome

Nivelon-Nivelon-Mabille syndrome · Chondrodysplasia-disorder of sex development syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

Congenital enteropathy involving intestinal mucosa development

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

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

FOSL2-related neurodevelopmental disorder

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

CTCF-related neurodevelopmental disorder

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental anomaly of metabolic origin

Developmental defect of the eye

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia 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

Difference of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome · Disorder of sex development-intellectual disability syndrome

Dysmorphism-short stature-deafness-difference of sex development syndrome

Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Dysmorphism-short stature-deafness-disorder of sex development syndrome

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Desanto-Shinawi syndrome due to WAC point mutation

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

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 46,XY difference of sex development of endocrine origin

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