Phenotype #0000051320

Individual ID	00065207
Associated disease	CMS
Phenotype details	breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), no 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), no spinal rigidity (-HP:0003306), dysmorphic features (HP:0001999), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), variation in fiber size (HP:0003557), generalized hypotonia (HP:0001290), gastroesophageal reflux (HP:0002020)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	00y05m (5 months)
Age/Diagnosis	-
Age/Onset	00y00m
Phenotype/Onset	recurrent apneas (HP:0002104), poor suck (HP:0002033)
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-05-23 11:22:25 +02:00 (CEST)
Date last edited	2017-03-19 12:39:33 +01:00 (CET)