Microcephaly-deafness-intellectual disability syndrome

Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000378 Cupped ear Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002057 Prominent glabella Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0004322 Short stature 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