Phenotype #0000104103

Individual ID 00131886
Associated disease PCH
Phenotype details Born 40w (weight 3 kg, length 50 cm, HC 32.2 cm); last examination 16y (weight 38 kg(-2.65 SD), length 143 cm(-3.56 SD), HC 48 cm(-4.77 SD))

generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); dysarthria (HP:0001260); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); gait ataxia (HP:0002066); wide-based gait (HP:0002136); unsteady gait (HP:0002317); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); muscle atrophy (HP:0003202); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321); no dysphagia (-HP:0002015)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Thymo van Camerijk
Database submission license No license selected
Created by Thymo van Camerijk
Date created 2017-09-25 13:31:33 +02:00 (CEST)
Date last edited 2017-10-02 22:14:27 +02:00 (CEST)

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