Global Variome shared LOVD

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Phenotype #0000051373 Individual ID 00065267 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), no small hands (-HP:0200055), no short foot (-HP:0001773), non-ambulatory (HP:0002540), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Sleep disturbance (HP:0002360),; birth 41w, Birth weight (percentile) 3,158 g (50th); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-25 09:49:10 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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