Hypotrichosis 7

Alternative Names

  • HYPT7
  • Hypotrichosis, Localized, Autosomal Recessive 2
  • LAH2
  • Hypotrichosis, Autosomal Recessive
  • AH
  • Hypotrichosis, Total, Mari Type
  • Woolly Hair, Autosomal Recessive 2, with or without Hypotrichosis
  • ARWH2
  • WH/HT

Associated Genes

Lipase H
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604379

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q27.2

Description

Hypotrichosis is a condition wherein affected individuals have sparse hair growth on the scalp and body. Scalp hair may also be light in color, coarse, dry, tightly curled and fragile. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604379.1.1LebanonMaleYesYes Progressive Sparse hair ; Woolly hair ;...NM_139248.2:c.179C>GHomozygousAutosomal, RecessiveSleiman et al, 2015 Proband
604379.1.2LebanonMaleYesYes Progressive Sparse hair ; Woolly hair ...NM_139248.2:c.179C>GHomozygousAutosomal, RecessiveSleiman et al, 2015 Brother of 604379.1....
604379.1.3LebanonMaleYesNo Progressive Sparse hair ; Woolly hair ;...NM_139248.2:c.179C>GHomozygousAutosomal, RecessiveSleiman et al, 2015 Cousin of 604379.1.1
604379.1.4LebanonFemaleYesNo Progressive Sparse hair ; Woolly hair ;...NM_139248.2:c.179C>GHomozygousAutosomal, RecessiveSleiman et al, 2015 Paternal aunt of 604...
© CAGS 2024. All rights reserved.