Phenotype #0000235506

Individual ID 00310203
Associated disease neuropathy, optic
Phenotype details Neurodevelopmental delay (HP:0012758); Delayed fine motor development (HP:0010862); Intellectual disability, borderline (HP:0006889); Attention deficit hyperactivity disorder (HP:0007018); Protruding ear (HP:0000411); Retrognathia (HP:0000278); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Corpus callosum atrophy (HP:0007371); Caesarian section (HP:0011410)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-09 15:09:14 +02:00 (CEST)
Date last edited 2021-05-07 17:47:49 +02:00 (CEST)

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