Smith-Lemli-Opitz syndrome
| HPO ID | HPO Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000062 | Ambiguous genitalia |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000171 | Microglossia |
| HP:0000175 | Cleft palate |
| HP:0000212 | Gingival overgrowth |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025