Disease #01942 (holocarboxylase synthetase deficiency, OMIM:253270)

Official abbreviation -
Name holocarboxylase synthetase deficiency
OMIM ID 253270
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HLCS
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Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00451459 3bINP-036 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - holocarboxylase synthetase deficiency Micropenis, unilateral chryptorchidism, few gluteal cafe-au-lait spot, developmental regression, autistic behavior HLCS HLCS 1 1 Miriam Erandi Reyna-Fabián
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