deafness-intellectual disability, Martin-Probst type syndrome
Findings
No curated finding names deafness-intellectual disability, Martin-Probst type syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010353), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dental malocclusionHPOHP:0000689
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplastic nipplesHPOHP:0002557
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: deafness-intellectual disability, Martin-Probst type syndrome
- Also called
- intellectual disability, X-linked, syndromic, Martin-Probst typeMartin-Probst syndromemartin-probst syndrome, X-linked recessivemental retardation, X-linked, syndromic, Martin-Probst typeX-linked deafness-intellectual disability syndrome syndrome