Autosomal dominant primary microcephaly

Orpha code: 2514OMIM code: 616311

Definicja

A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Disease data
Klasyfikacja

Etiological subtype

Kod ORPHA
2514
Kod OMIM
616311
Kod ICD10
Q02
Kod ICD11
LA05.0

No additional description.

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