Phenotype #0000341643

Individual ID 00452997
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth full-term, vaginal delivery, weight 4.17 kg; no intellectual disability (-HP:0001249); no neurodevelopmental delay (-HP:0012758); neonatal torticollis, musculoskeletal abnormalities (HP:0033127); seizure (HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain normal (-HP:0410263); no abnormality genitourinary system (-HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729)
Inheritance Isolated (sporadic)
Age/Examination 12y (12 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 2024-08-10 16:01:26 +02:00 (CEST)
Date last edited N/A

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