Rare Disease Library

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

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

Cloverleaf skull-multiple congenital anomalies syndrome

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Genetic lethal multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

Lethal congenital contracture syndrome type 3

LCCS3

Lethal multiple congenital anomalies/dysmorphic syndrome

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital 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-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular syndrome

Multiple congenital anomalies/dysmorphic syndrome

Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

MCA without intellectual disability · Multiple congenital anomalies without intellectual disability with or without dysmorphism

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome

Sacral hemangiomas-multiple congenital abnormalities syndrome