Global Variome shared LOVD

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Phenotype #0000144377 Individual ID 00183691 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details severe developmental delay; absence of language; behavioral abnormalities; hypotonia; seizures; no movement disorder; MRI normal; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; hypertrichosis; thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; kyphosis; no ardiovascular abnormality; no inguinal hernia; no skin problems Age/Examination 17y (17 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 2018-10-27 10:06:27 +02:00 (CEST) Date last edited 2018-12-28 14:24:56 +01:00 (CET)

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