Phenotype #0000239663

Individual ID 00315917
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite GAND
Phenotype details birth at term; birth weight 3800g, length 50cm; weight SD, height SD, OFC +2.34 SD; no neonatal hypotonia; motor delay; 3y-walk; speech delay; 4y10m-first words; severe intellectual deficiency; behavioral problems; no feeding difficulties; sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; short philtrum; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly
Inheritance Isolated (sporadic)
Age/Examination 35y (35 years)
Age/Diagnosis 36y
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 2020-10-30 10:06:36 +01:00 (CET)
Date last edited N/A

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