Rare Disease Library

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Arthrogryposis syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

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

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

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Dincsoy-Salih-Patel syndrome

Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Gingival fibromatosis-facial dysmorphism syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Weiss-Kruszka Syndrome

Metopic ridging-ptosis-facial dysmorphism syndrome

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome