Phenotype #0000051325

Individual ID	00065217
Associated disease	CMS
Phenotype details	breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), right ophthalmoparesis (HP:0000597), facial weakness (HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), lower-respiratory-tract infection (HP:0002783), chronic lung disease (HP:0006528), hiatus and diaphragmatic hernia (HP:0002036), recurrent chest infection (HP:0002783)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	00y00m
Phenotype/Onset	severe breathing (HP:0002094) and feeding (HP:0011968) difficulties
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-23 11:44:29 +02:00 (CEST)
Date last edited	2017-03-19 12:46:07 +01:00 (CET)

Global Variome shared LOVD