autosomal recessive primary microcephaly
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.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016056
isolated congenital microcephaly
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
MCPH
exact
microcephalia vera
exact
microcephaly vera
exact
microcephaly, primary autosomal recessive
exact
microcephaly, primary, autosomal recessive
exact
true microcephaly
broad
SPAC144.14 SPAC4F10.18 SPCC1795.01c SPAC2G11.05c SPCC306.03c SPBC776.17 SPBC776.13 SPBC16C6.13c SPCC417.07c SPCC1322.12c SPCC1020.02