MCID: DFN179
MIFTS: 19
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Deafness, Autosomal Recessive 62
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Recessive 62:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous pakistani has been reported (last curated august 2014) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
ICD10:
33
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Disease Ontology
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12
An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.
MalaCards based summary : Deafness, Autosomal Recessive 62, also known as dfnb62, is related to deafness, autosomal recessive and perrault syndrome 1. An important gene associated with Deafness, Autosomal Recessive 62 is DFNB62 (Deafness, Autosomal Recessive 62). Related phenotype is prelingual sensorineural hearing impairment.
Description from OMIM:
610143
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610143Human phenotypes related to Deafness, Autosomal Recessive 62:32
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Search
GEO
for disease gene expression data for Deafness, Autosomal Recessive 62.
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