Phenotype #0000236669

Individual ID 00311422
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details intra-uterine growth retardation, feeding difficulties; severe developmental delay/intellectual disability; abnormal gait, behavioral problems; patent ductus arteriosus, long hands, narrow hands, broad halluces; short stature (SD -2.7), low weight (SD -2.9), microcephaly (SD -3.34); craniofacial dysmorphisms; nystagmus, gastrostomy, urinary incontinence, constipation, growth hormone deficiency
Inheritance Isolated (sporadic)
Age/Examination 11y (11 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 2020-09-25 11:13:06 +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.