Phenotype #0000333775

Individual ID 00444522
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorders
Diagnosis/Definite -
Phenotype details Wide mouth, Unilateral renal hypoplasia, Skin plaque, Protruding tongue, Periventricular leukomalacia, Oligohydramnios, Macrocephaly, Intellectual disability, severe, Gastroesophageal reflux, Failure to thrive, Esodeviation, Chronic constipation
Inheritance Isolated (sporadic)
Age/Examination 02y-10y
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 2023-12-24 18:16:19 +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.