Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000242351 Individual ID 00320338 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy ureteral dilatation, gestational diabetes; neonatal hypotonia, feeding difficulties; birth 38w, weight +2SD, length 0SD, OFC 0SD; length +2.5SD, OFC 1SD, BMI 15.4 (50th); severe developmental delay/intellectual disability, 12m-sit; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; hand stereotypies, sleep disturbance, autism; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; no coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; histiocytofibroma (4y); no recurrent infections Age/Examination 4y3m (4 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.