Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620071
http://purl.bioontology.org/ontology/OMIM/620071
Preferred Name

BIRK-AHARONI SYNDROME
Synonyms
BKAH
NEDGTH
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SPASTIC TETRAPLEGIA, AND HEARING LOSS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BKAH
NEDGTH
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SPASTIC TETRAPLEGIA, AND HEARING LOSS
prefLabel
BIRK-AHARONI SYNDROME
Gene Symbol
S4
NEDGTH
PSMC1
Scope Statement
One consanguineous family has been reported (last curated October 2022) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the proteasome 26S subunit, ATPase, 1 gene (PSMC1, 602706.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU064174
http://purl.bioontology.org/ontology/OMIM/MTHU076265
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU010663
http://purl.bioontology.org/ontology/OMIM/MTHU005254
http://purl.bioontology.org/ontology/OMIM/MTHU009000
http://purl.bioontology.org/ontology/OMIM/MTHU040063
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU003622
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU016790
http://purl.bioontology.org/ontology/OMIM/MTHU005347
http://purl.bioontology.org/ontology/OMIM/MTHU036353
http://purl.bioontology.org/ontology/OMIM/MTHU076266
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU076267
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU051395
http://purl.bioontology.org/ontology/OMIM/MTHU004635
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU065320
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tui
T047
Gene Locus
14q32.11
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620071
Semantic type UMLS property
Has inheritance type
cui
C5774229
OMIM Entry Type
3
OMIM MimType Value
pound
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