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 | X-linked hearing loss-intellectual disability 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://www.orphadata.org. Data version April 2024
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Deafness-intellectual disability syndrome, Martin-Probst type?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.