Phenotype #0000356800

Individual ID 00471991
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., brith 36w; no intellectual disability (non-verbal IQ97), follows normal education; speech delay; no autism; ADHD; no hypotonia; no seizures; MRI/CT normal; cogenital ptosis, deep set eyes, downslanted palpebral fissures,long face, flat face, thin upped and lower lip vermilion, deep philtrum, prominent chin, broad nasal bridge; skin hyperpigmentation neck/hands; no cardiac anomalies; normal kidneys; cryptorchidism; prolonged bleeding after adenotomy (no bleeding disorder identified)
Inheritance Isolated (sporadic)
Age/Examination 9y (9 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 2026-01-05 12:55:15 +01:00 (CET)
Date last edited N/A

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