Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 8209892
 Delineation of the da-Silva syndrome.
Naritomi K, Tohma T, Goya Y, Shiroma N, Hirayama K.
Am J Med Genet. 1994;49(3):313-6.
Microcephaly
Child External Ear Growth Disorders Homo sapiens Infant Intellectual Disability Male Microcephaly Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000384 Preauricular skin tag Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0002079 Hypoplasia of the corpus callosum Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0006532 Recurrent pneumonia Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000348 High forehead Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001608 Abnormality of the voice Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)


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