Phenotype #0000051324

Individual ID	00065215
Associated disease	CMS
Phenotype details	feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), facial weakness (HP:0010628), no bulbar weakness (-HP:0001283), no proximal weakness upper limbs (-HP:0008997), no proximal weakness lower limbs (-HP:0008994), distal weakness upper limbs (HP:0008959), no distal weakness lower limbs (-HP:0009053), right axial weakness (HP:0003327), no distal-joint laxity (-HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), mild learning difficulties (HP:0001328), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), dyspnoea on exertion (HP:0001328), recurrent chest infections (HP:0002783)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	00y00m
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-23 11:33:38 +02:00 (CEST)
Date last edited	2017-03-19 12:46:27 +01:00 (CET)

Global Variome shared LOVD