Phenotype #0000326314
| Individual ID |
00436130 |
| Associated disease |
NDD |
| Diagnosis/Initial |
Prader-Willi syndrome |
| Diagnosis/Definite |
- |
| Phenotype details |
onset infancy; neurodevelopmental delay; obesity; hyperphagia; diabetes; CAKUT (hydro-nephrosis); prominent occiput (HP:0011220); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); thin upper lip vermilion (HP:0000219); no thick lower lip vermilion (-HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); dolichocephaly; prominent glabella; mild speech delay; mild motor delay; moderate learning disabilities; special school; mild intellectual disability; no epilepsy; formal diagnosis of Autism Spectrum Disorder and ADHD, stereotypic behavior, social distancing |
| Inheritance |
Familial |
| Age/Examination |
33y (33 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-08-16 11:42:32 +02:00 (CEST) |
| Date last edited |
N/A |
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