Phenotype #0000343462

Individual ID 00454855
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; moderate-severe global developmental delay; 3y-walk, wide gait; no speech; intellectual disability; no behavioral issues; rocks, flaps arms, likes to clap hands; hypotonia (mixed tone, lower tone in upper extremities, higher tone in lower extremities); seizures; MRI brain abnormal, white matter loss - stable over time
Inheritance Isolated (sporadic)
Age/Examination 7y (7 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 2024-09-30 10:26:47 +02:00 (CEST)
Date last edited N/A

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