<unk>  (MICPCH), also known as mental<unk> , X-linked, syndromic, Najm type (MRXSNA) and X-linked intellectual deficit, Najm type, is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar<unk> . It usually affects females; many males die before birth or not long after. The disorder is associated with a mutation in the CASK gene. As with the vast majority of genetic disorders, there is no known cure to MICPCH. The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutarate, adipic acid and suberic acid, which seems to backup the proposal that CASK affects mitochondrial function. It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Hand and foot deformity with flat facies
Severe achondroplasia with developmental delay and acanthosis nigricans
Infantile convulsions and choreoathetosis
Abdominal musculature absent with microphthalmia and joint laxity
Epilepsy-intellectual disability in females
New Brunswick neurological syndrome of unknown cause
Leonine facies