Global Variome shared LOVD

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

Phenotype #0000051212 Individual ID 00065106 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details no regression (-HP:0002376), no ventilator dependence (-HP:0004887), moderate hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), broad forehead (HP:0000337), bulbous nose (HP:0000414), open mouth (HP:0000194), thick lips (HP:0012471), deep palate (HP:0000174), mandibular prognathia (HP:0000303), hearing impairment (HP:0000365), behavioral abnormality (HP:0000708), delayed skeletal maturation (HP:0002750); severe intellectual disability (HP:0010864); motor delay (HP:0001270); no speech (HP:0001344) Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-18 12:14:58 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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