Phenotype #0000337183

Individual ID 00447994
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., 2y6m-developmental delay, trigonocephaly, shallow orbits, ptosis; 24y-prominent metopic ridge, underdeveloped supraorbital ridges, arched eyebrows, bilateral ptosis, inner epicanthal folds, large mouth, thin upper lip, broad/long philtrum, retrognathia, low-set ears, broad neck, low posterior hairline
Inheritance Isolated (sporadic)
Age/Examination 24y (24 years)
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 2024-02-08 16:48:55 +01:00 (CET)
Date last edited N/A

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