Phenotype #0000235409

Individual ID 00310097
Associated disease neuropathy, optic
Phenotype details Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Seizure (HP:0001250); Gait imbalance (HP:0002141); Recurrent infections (HP:0002719); Narrow palm (HP:0004283); Narrow foot (HP:0001786); Horizontal nystagmus (HP:0000666); Amblyopia (HP:0000646); Delayed myelination (HP:0012448); Optic nerve dysplasia (HP:0001093); Absent speech (HP:0001344); Short attention span (HP:0000736); Broad-based gait (HP:0002136); Abnormality of pain sensation (HP:0010832); Visual impairment (HP:0000505); Limb joint contracture (HP:0003121); High forehead (HP:0000348); Protruding ear (HP:0000411); Widely spaced teeth (HP:0000687); Abnormality of the distal phalanx of the thumb (HP:0009617); Long fingers (HP:0100807); Sandal gap (HP:0001852); Pes valgus (HP:0008081); Pes planus (HP:0001763); Optic atrophy (HP:0000648)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 00y04m
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-08 16:17:00 +02:00 (CEST)
Date last edited 2021-05-07 17:47:19 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.