White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.



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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: 17

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Very frequent (99-80%)
HP:0012430 Cerebral white matter hypoplasia Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Frequent (79-30%)
HP:0001181 Adducted thumb 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