Global Variome shared LOVD

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Phenotype #0000288195 Individual ID 00394995 Associated disease SPG Phenotype details Stature for age Short stature (<-2SD) Head circumference for age Microcephaly (<-3SD) Progressive microcephaly Proportionate short stature. High palate Retrognathia Epicanthus Micrognathia Metopic synostosis Seizures Dystonia Spasticity Quadrispasticity Irritability Encephalopathy Babinski sign Dysmyelinating leukodystrophy Diffuse white matter abnormalities EEG with persistent abnormal rhythmic activity Severe global developmental delay Elevated brain lactate level by MRS Delayed ability to stand Delayed ability to sit Grasp reflex Abnormal eating behavior Diagnosis/Initial HSP Inheritance Familial, autosomal recessive Diagnosis/Definite HPDL infantile neurodegenerative disorder Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Baiba Lace Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Baiba Lace Date created 2021-12-03 13:07:10 +01:00 (CET) Date last edited 2021-12-05 17:43:10 +01:00 (CET)

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