Phenotype #0000249002

Individual ID 00330809
Associated disease 3MC
Diagnosis/Initial Carnevale syndrome
Diagnosis/Definite 3MC2
Phenotype details no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti
Inheritance Familial, autosomal recessive
Age/Examination -
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 2021-02-08 18:48:40 +01:00 (CET)
Date last edited N/A

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