Deafness-intellectual disability, Martin-Probst type syndrome

A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.

Also known as: Martin-Probst syndrome, X-linked deafness-intellectual disability syndrome syndrome, intellectual disability, X-linked, syndromic, Martin-Probst type, martin-probst syndrome, X-linked recessive, mental retardation, X-linked, syndromic, Martin-Probst type, MRXSMP, Martin-Probst deafness-intellectual disability syndrome, Martin-Probst deafness-mental retardation syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Deafness-intellectual disability, Martin-Probst type syndrome itself.