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.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MRXSMP
related
Martin-Probst deafness-mental retardation syndrome
related
Martin-Probst syndrome
exact
X-linked deafness-intellectual disability syndrome syndrome
exact
intellectual disability, X-linked, syndromic, MARTIN-Probst type
related
intellectual disability, X-linked, syndromic, Martin-Probst type
exact
martin-probst syndrome, X-linked recessive
exact
mental retardation, X-linked, syndromic, MARTIN-Probst type
related
mental retardation, X-linked, syndromic, Martin-Probst type
exact