Phenotype #0000342234

Individual ID 00453576
Associated disease ?
Diagnosis/Initial multisystemic disorder
Diagnosis/Definite MRMNS
Phenotype details see paper; ..., onset neonatal; decreased body weight (-5.80 SD); no short stature (-1.91 SD); microcephaly (-2.51 SD); bilateral sensorineural hearing impairment; no dyspnea; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy
Inheritance Familial, autosomal recessive
Age/Examination 7m
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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