Phenotype #0000284192

Individual ID 00174070
Associated disease ID
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Phenotype details intrauterine growth retardation (weight 5th percentile, height unknown); short stature (<5th percentile); developmental delay; micrognathia or retrognathia, low set or posteriorly rotated ears, epicanthal folds, down slanting palpebral fissures, highly arched palate, and frontal bossing; no cardiac defects; Wormian bones, kyphoscoliosis; normal skin; Hypotonia, ADHD, anxiety
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-11 15:40:53 +01:00 (CET)
Date last edited N/A

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