Phenotype #0000337698

Individual ID 00448521
Associated disease ARCND
Diagnosis/Initial auriculocondylar syndrome
Diagnosis/Definite ARCND2B
Phenotype details brith 42w, length 50 cm (+0.2 SD), weight 3.35 kg (+0.1 SD); 5y8m-height 107 cm (−2.0 SD), weight 15 kg (-2.7 SD); no question-mark ears, no skin tags, prominent cheeks, micrognathia, microstomia, no low-set ears, malformed ears; intellectual disability, motor delay, no seizure, no hypotonia, opisthotonus; no hearing impairment; feeding difficulties, constipation, no diarrhea; apnea, laryngomalacia
Inheritance Isolated (sporadic)
Age/Examination 05y08m (5 years, 8 months)
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 2024-03-22 01:02:20 +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.