Phenotype #0000342235

Individual ID 00453577
Associated disease ?
Diagnosis/Initial multisystemic disorder
Diagnosis/Definite MRMNS
Phenotype details see paper; ..., onset infancy; decreased body weight (-3.23 SD); short stature (-3.10 SD); microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; hypotonia; no diaphragm weakness; incoordination; not achieved independent ambulation; delayed gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; intention tremor; cerebellar atrophy; no cerebral atrophy
Inheritance Familial, autosomal recessive
Age/Examination 7y10m (7 years, 10 months)
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 2024-09-10 19:59:05 +02:00 (CEST)
Date last edited 2024-11-23 09:37:42 +01:00 (CET)

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