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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02368 | Developmental delay with short stature, dysmorphic facial features, and sparse hair | ... features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies. It has been reported that DPH1 is responsible gene for DEDSSH. | Congenital malformation |
(DEDSSH1) DPH1 [HSA:1801] [KO:K07561] (DEDSSH2) DPH2 [HSA:1802] [KO:K17866] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |