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deafness-intellectual disability, Martin-Probst type syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-intellectual disability, Martin-Probst type syndrome

MONDO:0010353

Also known as:Martin-Probst syndromeX-linked deafness-intellectual disability syndrome syndromeintellectual disability, X-linked, syndromic, Martin-Probst type

Overview

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.

GeneticsX-linked

OnsetJUVENILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypoplastic nipples; and very common findings: Wide intermamillary distance, Wide mouth, Wide nasal bridge, and Malar flattening and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Reduced kidney function (renal insufficiency), Protein in the urine (proteinuria), Renal hypoplasia

Prognosis

Phenotype severity distribution: 1 always present feature, 14 very common features, 24 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300519

Orphanet

European rare disease database

Orphanet:85321

GARD

Genetic and Rare Diseases Info Center

GARD:16750

Questions for Your Care Team

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deafness-intellectual disability, Martin-Probst type syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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