Global Variome shared LOVD

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Phenotype #0000309977 Individual ID 00418643 Associated disease neuropathy, optic Phenotype details Delayed speech and language development (HP:0000750); Anemia (HP:0001903); Bone marrow failure (HP:0005528); Growth delay (HP:0001510); Ataxia (HP:0001251); Failure to thrive (HP:0001508); Lacticacidemia (HP:0003128); Chronic kidney disease (HP:0012622); Rod-cone dystrophy (HP:0000510); Sensorineural hearing loss (HP:0000407); Ptosis (HP:0000508); Ophthalmoplegia (HP:0000602); Abnormal growth hormone level (HP:0032367); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal electroretinogram (HP:0000512); Abnormal thalamic MRI signal intensity (HP:0012696); Cerebral atrophy (HP:0002059); Attenuation of retinal blood vessels (HP:0007843); retinal dystrophy (HP:0000556) Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 11y Phenotype/Onset - Protein - Owner name Mohamed Selhane Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Mohamed Selhane Date created 2022-10-03 15:31:26 +02:00 (CEST) Date last edited 2024-09-14 17:41:30 +02:00 (CEST)

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