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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