Phenotype #0000248999

Individual ID 00330806
Associated disease 3MC
Diagnosis/Initial Carnevale syndrome
Diagnosis/Definite 3MC2
Phenotype details no small stature (<3rd); arched eyebrows; blepharoptosis; no epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties
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 15:57:08 +01:00 (CET)
Date last edited N/A

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