Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Hearing loss-intellectual disability syndrome, Martin-Probst type Zespół głuchota sprzężona z chromosomem X - niepełnosprawność intelektualna Zespół Martina i Probsta Martin-Probst syndrome X-linked deafness-intellectual disability syndrome syndrome X-linked hearing loss-intellectual disability syndrome syndrome ORPHA code 85321 OMIM code 300519 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl