Deafness-intellectual disability syndrome, Martin-Probst type

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Deafness-intellectual disability syndrome, Martin-Probst type

Synonyms: Hearing loss-intellectual disability syndrome, Martin-Probst type | Martin-Probst syndrome | X-linked deafness-intellectual disability syndrome syndrome | X-linked hearing loss-intellectual disability syndrome syndrome

A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss varying degrees of intellectual disability short stature and dysmorphic facial features (such as telecanthus epicanthic folds broad nasal root malar hypoplasia low-set ears dental anomalies and micrognathia). Additional reported manifestations include microcephaly renal and genitourinary abnormalities widely spaced hypoplastic nipples and adult onset of progressive pancytopenia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Deafness-intellectual disability syndrome, Martin-Probst type?

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