Global Variome shared LOVD

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

Phenotype #0000232083 Individual ID 00306152 Associated disease SPG30 Phenotype details Phenotype at the examination: body mass 40 kg (>97 centile), height 130 cm (>95 centile), body mass index 100 centile, head circumference 54 cm, facial features prominent incisors, poor dermatoglyphics; tendon reflexes are brisk (in legs more than in arms), gait was slow, spastic with elements paretic and leg recurvation; mental retardation (MR), quiet behavior, stereotypies. Diagnosis/Initial HSP Inheritance - Diagnosis/Definite SPG30 Age/Examination 07y06m (7 years, 6 months) Age/Diagnosis 07y06m Age/Onset 02y09m Phenotype/Onset - Protein - Owner name Varvara Kadnikova Database submission license No license selected Created by Varvara Kadnikova Date created 2020-07-11 13:07:57 +02:00 (CEST) Date last edited 2020-07-14 19:06:57 +02:00 (CEST)

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