Disease #01805 (GAPOS (GAPO syndrome), OMIM:230740)

Official abbreviation GAPOS
Name GAPO syndrome
OMIM ID 230740
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 ANTXR1
Associated tissues -
Disease features typical facies, failure to thrive, short stature, sparse dentition, alopecia or sparse hair growth, optic atrophy (0.5)
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-12-29 15:55:07 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00471681 patient PubMed: Smigiel 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother, unaffected non-carrier father F - Poland - - - - - GAPOS see paper; ..., birth C-section, uneventful pregnancy, weight 3650g (50th–85th), length 52cm (85th–97th), OFC 35cm (85th), disproportionate short stature (short upper/lower limbs), facial dysmorphic (macrocephaly, coarse face, saddle nose, wide nasal bridge); delayed closure anterior fontanelle, alopecia, pseudoanodontia; 4y-short stature, excessive hair growth on back, disproportion proximal location extremities, hypotonic joints, alopecia more intense, teeth eruption delay, oligodontia - ANTXR1 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.