HJMD is characterised by juvenile macular dystrophy and congenital hypotrichosis. Alopecia of the scalp was also observed in some patients with this disorder. HJMD is associated with mutations in CDH3 gene.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
16q22.1
HJMD is characterised by juvenile macular dystrophy and congenital hypotrichosis. Alopecia of the scalp was also observed in some patients with this disorder. HJMD is associated with mutations in CDH3 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601553.1 | United Arab Emirates | Male | Yes | Sparse hair; Macular dystrophy Sparse hair; Macular dystrophy  | NM_001793.6:c.977C>A | Homozygous | Autosomal, Recessive | Khan. 2020 |