Phenotype #0000326887

Individual ID 00436774
Associated disease DIH
Diagnosis/Initial congenital diaphragmatic hernia
Diagnosis/Definite -
Phenotype details see paper; ..., alive; left congenital diaphragmatic hernia with hernia sac; no body-wall defect; hypertelorism, low-set right ear, short nose with wide nasal root, downslanting palpebral fissures, widely spaced teeth, high arched palate; intermittent horizontal nystagmus, dilation of lateral ventricles, speech delay, intellectual disability, autism, complex partial seizures; corneal pannus, sensory neural hearing loss, malocclusion, two-vessel umbilical cord
Inheritance Familial, X-linked dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-10-06 11:49:26 +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.