Deafness-intellectual disability, Martin-Probst type syndrome
Deafness-intellectual disability, Martin-Probst type syndrome
Definition
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 intellectual disability, X-linked, syndromic, Martin-Probst type, Martin-Probst syndrome, martin-probst syndrome, X-linked recessive, mental retardation, X-linked, syndromic, Martin-Probst type, X-linked deafness-intellectual disability syndrome syndrome — per MONDO