Clinical Characteristics

In Alopecia-mental retardation syndrome 4, key features of this disorder are intellectual disability and congenital alopecia (OMIM #618840).

Intellectual disability was mild to severe with limited/absent speech in 9.
Brain imaging is generally normal.
Hypotonia was indicated in 7 individuals and delayed or absent walking also in 7. Microcephaly was indicated in 3 patients.
Early onset epilepsy (onset between birth to 10 weeks) was present in 8 patients.

Genital abnormalities were noticed in 4 of 6 male patients.

In 4 of 5 individuals tested, Cholesterol levels were showed as normal. The fifth had a low level.

Nonsyndromic hypotrichosis (OMIM #618275) has been associated to gene in 2 individuals.

Severe isolated congenital cataract was also indicated in other studies in 4 patients (OMIM #616509).