Global Variome shared LOVD

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Phenotype #0000051375 Individual ID 00065269 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), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content, interested in surroundings, Atonic seizures (HP:0010819), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (-HP:0002360),; birth 40w, Birth weight (percentile) 3,070 g (25th), OFC at birth (percentile) 35 cm (75th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) Age/Examination 09y (9 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 10:32:45 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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