Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000141995 Individual ID 00179509 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial Phenotype details born 34w Cesarean section, low birth measurements, weight 1180g (<3rd centile), length 35 cm (<3rd centile), OFC 35 cm (<3rd centile), congenital heart disease, anomalous aortic arch, atrial septal defect, aberrant subclavian artery, cryptorchidism, sensorineural hearing loss, bilateral inguinal hernias; 5y8m-short stature (101 cm, <3rd centile), borderline microcephaly (49.5 cm, 3rd centile), facial dysmorphism, triangular face, downslanting palpebral fissures, strabismus, ptosis, small nose, anteverted nares, thin upper lip, dysplastic, low-set posteriorly rotated ears; single transverse palmar creases hands, thin legs, no hand or foot malformations; psychomotor development severely delayed, unable to walk without support, no speech Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Tzschach Database submission license No license selected Created by Andreas Tzschach Date created 2014-06-04 15:43:18 +02:00 (CEST) Date last edited 2021-12-02 11:50:02 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.