Global Variome shared LOVD

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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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