Cerebellar-facial-dental syndrome

Orpha code: 444072OMIM code: 616202

Definicja

A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Cerebellofaciodental syndrome
Cerebellofaciodental syndrome
Kod ORPHA
444072
Kod OMIM
616202
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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