Deafness-intellectual disability syndrome, Martin-Probst type

Deafness-intellectual disability syndrome, Martin-Probst type is characterised 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 localised to the q1-21 region of the X chromosome.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 24863632
 Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
Lee J, Wong S, Boles RG.
Eur J Pediatr. 2014;173(7):967-9.
Short stature
RAB40AL
p|SUB|D|59|G;RS#:145606134 rs145606134
Craniofacial Abnormalities Developmental Disabilities Genetic Diseases, X-Linked Homo sapiens Intellectual Disability Male Mitochondrial Proteins Mutation Urogenital Abnormalities Young Adult ras Proteins
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000689 Dental malocclusion Very frequent (99-80%)
HP:0001537 Umbilical hernia Very frequent (99-80%)
HP:0002342 Intellectual disability, moderate Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0006709 Aplasia/Hypoplasia of the nipples Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000089 Renal hypoplasia Frequent (79-30%)
HP:0000110 Renal dysplasia Frequent (79-30%)
HP:0000179 Thick lower lip vermilion Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000821 Hypothyroidism Frequent (79-30%)
HP:0001876 Pancytopenia Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0100585 Telangiectasia of the skin Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID