Phenotype #0000305190

Individual ID 00413209
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details hypotonia at birth (HP:0001252), congenital paralysis (HP:0003470), motor delay
(HP:0001270), speech delay (HP:0000750), intellectual disability (HP:0001249), muscular hypotonia (HP:0001252), strabismus (HP:0000486), generalized slow activity (HP:0010845), Large and low-set ears (HP:0000369, HP:0000400), tall and thin stature (HP:0000098), camptodactyly of all fingers (HP:0100490), skinny feet with pes cavus (HP:0001761)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Frederike Leonie Harms
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Frederike Leonie Harms
Date created 2022-07-12 11:23:05 +02:00 (CEST)
Date last edited 2022-07-17 10:14:42 +02:00 (CEST)

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