Phenotype #0000319008

Individual ID 00428062
Associated disease NDD
Diagnosis/Initial neurodevelopmental dealy
Diagnosis/Definite -
Phenotype details brith at term, weight 3.3 kg, length 50 cm, OFC 33.5 cm; delayed speech development; normal gross motor development; delayed fine motor milestones; global developmental delay, borderline/mild intellectual disability (IQ 78); no seizures; no autism; no hypotonia; MRI brain normal; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; epicanthal folds, small ears, anteverted nares, small mouth; no congenital anomalies
Inheritance Isolated (sporadic)
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-12-21 10:47:09 +01:00 (CET)
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.