Global Variome shared LOVD

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

Phenotype #0000051199 Individual ID 00065096 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details sloped forehead (HP:?), bulbous nose (HP:0000414), tented upper lip (HP:0010804), upward slant of palpebral fissures (HP:0000582), abnormal eye movements (HP:0000496), asthma (HP:0002099), eczema (HP:0000964), diffuse brain atrophy (HP:0002283), abnormal white-matter signal intensity (HP:?), no sitting (HP:?), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); speech delay (HP:0000750) Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-17 11:41:07 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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