Phenotype #0000272169

Individual ID 00376976
Associated disease CDG
Diagnosis/Initial congenital glycosylation disorder
Diagnosis/Definite -
Phenotype details birth full term, weight 3140g, length 48.5cm, OFC 34.5cm; length 106cm (-2.0SD), OFC 50cm (-0.5SD), weight 16.3kg (-1.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; hyperactivity; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; refractive error; ears low set, mild protrusion; positional club feet; no genital abnormalities; gastro-esophageal reflux
Inheritance Familial, autosomal recessive
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-28 16:11:27 +02:00 (CEST)
Date last edited N/A

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.