Severe microcephalyGene: AP4M1
Despite the OMIM name, this is a complex neurological condition, where microcephaly is an early prominent presenting feature.
- 1x with severe progressive microcephaly (< - 4 SD)
- homozygous nonsense
- 2x unrelated patients (1 and 3) < -3 SD head circumference
- 2x homozygous nonsense
Sources: Expert list
Created: 31 Aug 2020, 11:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 50, autosomal recessive (MIM#612936)
Variants in this GENE are reported as part of current diagnostic practice
gene: AP4M1 was added gene: AP4M1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 28464862; 24700674 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive (MIM#612936) Review for gene: AP4M1 was set to GREEN gene: AP4M1 was marked as current diagnostic