Phenotype #0000110008

Individual ID 00137260
Associated disease MD
Phenotype details 4y8m-global developmental delay, speech apraxia, severe speech/motor impediments,
delayed ambulation (3.5y), delayed phrased speech (4y); 4y11m-height 101.6 cm (5th centile), weight 15.9 Kg (10th centile), frequent falling, lordotic gait, walked with wide base of support with foot flat to toe-off gait pattern, low muscle tone, bilaterally decreased hip flexion, Calf hypertrophy, positive GowerÂ’s sign, heart abnormalities; elevated serum CPK (HP:0003236) 25,829 U/L; delayed motor ability
Diagnosis/Initial dystrophy, muscular, atypical
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 4y8m
Phenotype/Onset developmental delay, hypothyroidism
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-09-10 19:56:56 +02:00 (CEST)
Date last edited 2012-03-09 19:08:25 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.