A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)
primary autosomal recessive microcephaly 16
primary autosomal recessive microcephaly 17
primary autosomal recessive microcephaly 19
primary autosomal recessive microcephaly 2 with or without cortical malformations
Primary Autosomal Recessive Microcephaly 20
Primary Autosomal Recessive Microcephaly 21
Primary Autosomal Recessive Microcephaly 22
Primary Autosomal Recessive Microcephaly 23
Primary Autosomal Recessive Microcephaly 24
Primary Autosomal Recessive Microcephaly 25
Primary Autosomal Recessive Microcephaly 26
Primary Autosomal Recessive Microcephaly 27
Primary Autosomal Recessive Microcephaly 28
Primary Autosomal Recessive Microcephaly 29
primary autosomal recessive microcephaly 3
Primary Autosomal Recessive Microcephaly 30
primary autosomal recessive microcephaly 4
primary autosomal recessive microcephaly 5
primary autosomal recessive microcephaly 6
primary autosomal recessive microcephaly 7
primary autosomal recessive microcephaly 8
primary autosomal recessive microcephaly 9
Synonyms
Exact Synonyms:
MCPH15
;
NEDMISBA
;
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities