Phenotype #0000238614

Individual ID 00314856
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite SPG49
Phenotype details see paper; ..., global developmental delay (HP:0001263); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); abnormality autonomic nervous system (HP:0002270), "autonomic dysfunction with encephalopathic events"; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); gastroesophageal reflux at infancy (HP:0002020)
Inheritance Familial, autosomal recessive
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset 01y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-19 19:13:33 +02:00 (CEST)
Date last edited 2024-02-23 14:18:10 +01:00 (CET)

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