Phenotype #0000326482

Individual ID 00436302
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., weight 29th, length 8th, OFC 5th; short stature; microcephaly; developmental delay; speech delay; no autism spectrum disorder; behavioral problems; micrognathia, ear abnormalities, wide-set eyes, beaked or prominent nose, arched eyebrows, or low-set ears, cleft/arched palate; low, anterior hairline; hearing loss; congenital heart defect; fifth finger clinodactyly; 2-3 toe syndactyly; MRI brain dysgenesis splenium corpus callosum; ECG apical and muscular ventricular septal defect
Inheritance Isolated (sporadic)
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-08-31 23:11:43 +02:00 (CEST)
Date last edited N/A

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