Global Variome shared LOVD

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

Phenotype #0000292214 Individual ID 00399125 Associated disease CMT4A Phenotype details Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) Diagnosis/Initial CMT Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4A Age/Examination 03y04m (3 years, 4 months) Age/Diagnosis - Age/Onset 02y03m Phenotype/Onset Difficulty running (HP:0009046) Protein - Owner name Yvet den Hartog Database submission license Creative Commons Attribution 4.0 International Created by Yvet den Hartog Date created 2022-01-15 23:55:40 +01:00 (CET) Date last edited 2022-01-16 10:20:54 +01:00 (CET)

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