Rare Disease Library

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Cloverleaf skull-multiple congenital anomalies syndrome

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Genetic lethal multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

Lethal multiple congenital anomalies/dysmorphic syndrome

Müllerian duct anomalies-limb anomalies syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MCA/MR · Multiple congenital anomalies-intellectual disability with or without dysmorphism

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Multiple pterygium syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome

Oromandibular-limb anomalies syndrome

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome