Global Variome shared LOVD

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

Phenotype #0000051206 Individual ID 00065097 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details progressively severe hypotonia (HP:0001252), no sitting, no regression (HP:0002376), no ventilator dependence (-HP:0004887); MRI bilateral frontal white-matter hyperintensities on T2-weighted FLAIR; no seizures (-HP:0001250), metopic ridge (HP:0005487), thick bushy eyebrows (HP:0000574), high-arched palate (HP:0000218); small pectus excavatum (HP:0000767), mild scoliosis (HP:0002650), diastasis recti (HP:0001540), clinodactyly (HP:0030084), partial syndactyly toes 2/3 (HP:0004691); prenatal renal pyelectasis (HP:0010945), hepatic calcifications (HP:0006559); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344) Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-17 14:40:42 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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