Global Variome shared LOVD

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Phenotype #0000325762 Individual ID 00435577 Associated disease NDD Diagnosis/Initial epilepsy, intellectual disability Diagnosis/Definite DEE54 Phenotype details see paper; ..., birth 40w, weight 2640g (-1.97), length 47cm (-2.13); weight 63.6kg (+0.84), height 146.5cm (-2.44), OFC 54.2cm (-0.19); severe intellectual disability; no microcephaly; short stature; hypotonia; speech impairment, 1-2 word utterances; generalized tonic-clonic seizures, atonic insults, absences, Lennox-Gastaut-like epilepsy, onset 62m; no prominent metopic ridge; deep set eyes; hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; no eversion of upper lip; no micro/retrognathia; teeth abnormalities; short neck; low set ears; normal corpus callosum, subependymal gray matter heterotopia, Chiari I malformation; no feeding difficulties; no hearing deficit; autism, aggressive behavior, odontogenic keratocyst Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2023-08-04 19:02:00 +02:00 (CEST) Date last edited N/A

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