Global Variome shared LOVD

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

Phenotype #0000242361 Individual ID 00320348 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy uncomplicated; neonatal cholestasis, hepatomegaly, hypoglycaemia; birth at term, weight -1SD, OFC +1SD; length -4.5, OFC -0.4, BMI 16.6 (80th) ; severe developmental delay/intellectual disability; not walking; no speech; 1d-epilepsy; no developmental regression; hypotonia; sleep disturbance; MRI brain hydrocephaly, periventricular white matter lesions; prominent forehead; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hip dislocation; no club feet; normal skeletal X-rays (thorax); skin Blaschko’s lines; umbilical hernia; normal eyes; hearing loss; bronchomalacia, cardiac left ventricle dilatation, hypospadias, clubbing of fingers; recurrent infections Age/Examination 5y (5 years) 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

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