ALDH18A1 - Gene browser

ALDH18A1

aldehyde dehydrogenase 18 family member A1

HCNC Approved Symbol: ALDH18A1 (HGNC:9722)
Genomic Coordinates: 10:95,605,941 - 95,656,711 (10q24.1)
Synonyms: P5CS, GSAS, PYCS, SPG9
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the ALDH18A1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

016
Patient count

Global developmental delay: 5 (31.3%)
Patient Count: 5 (31.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (31.3%)
Short stature: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Congenital heart defect: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Microcephaly: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Cataracts: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)