Phenotype #0000001952

Individual ID 00003133
Associated disease OFD9
Phenotype details 24w gestation-cleft lip, abnormal hands, small occipiofrontal circumference; birth-microcephaly, right microphthalmia, left anophthalmia, bilateral optic disc coloboma, severe midline cleft (lip/alveolus), hypertelorism, severe choanal stenosis, left hand post-axial polydactyly, ambiguous genitalia, ECG patent ductus arteriosus and ASD; further details see Adly, submitted; 6m-died cardiac arrest
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Fowzan Alkuraya
Database submission license No license selected
Created by Johan den Dunnen
Date created 2013-10-31 13:59:41 +01:00 (CET)
Date last edited 2013-11-01 16:50:21 +01:00 (CET)

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.