Severe microcephalyGene: TP53RK
At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable.
Sources: Expert Review
Created: 4 Sep 2020, 2:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Galloway-Mowat syndrome 4, MIM# 617730
Variants in this GENE are reported as part of current diagnostic practice
gene: TP53RK was added gene: TP53RK was added to Severe microcephaly. Sources: Expert Review Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP53RK were set to 28805828; 30053862 Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730 Review for gene: TP53RK was set to GREEN gene: TP53RK was marked as current diagnostic