Autosomal recessive primary microcephaly

Orpha code: 2512OMIM code: 617090

Definition

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

Disease data
Classification

Etiological subtype

Synonyms
MCPH
Małogłowie prawdziwe
MCPH
Mikrocefalia prawdziwa
Microcephalia vera
Microcephaly vera
True microcephaly
ORPHA code
2512
OMIM code
617090
ICD10 code
Q02
ICD11 code
-

No additional description.

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