Phenotype #0000337697

Individual ID 00448520
Associated disease ARCND
Diagnosis/Initial auriculocondylar syndrome
Diagnosis/Definite ARCND2B
Phenotype details brith 41w, length 50 cm (+0.2 SD), weight 2.94 kg (−0.8 SD); 1y-height 73.6 cm (−0.5 SD), weight 9.6 kg (+0.2 SD); question-mark ears, skin tags (post-auricular), prominent cheeks, micrognathia, microstomia, low-set ears, malformed ears; no intellectual disability, motor delay, seizure, hypotonia, no opisthotonus; hearing impairment; feeding difficulties, no constipation, diarrhea; no apnea, no laryngomalacia
Inheritance Isolated (sporadic)
Age/Examination 01y (1 year)
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 00:56:35 +01:00 (CET)
Date last edited N/A

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