Global Variome shared LOVD

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

Phenotype #0000242350 Individual ID 00320337 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy uncomplicated; neonatal feeding difficulties; birth term, weight 0SD, length +0.5SD, OFC +0.5SD; length -1SD, OFC 0SD, BMI 18 (90th); severe developmental delay/intellectual disability, head control; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; sleep disturbance; MRI brain hydrocephaly (acqueducal stenosis); no widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays short metacarpals and long bones; skin Blaschko’s lines; no umbilical hernia; strabismus, depigmented iridian macule; hearing loss; lateral semicircular canal dysplasia, laryngomalacia; recurrent infections Age/Examination 29m 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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