Infantile axonal neuropathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2679
OMIM Id:
ICD-10: G60.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
7
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
8
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
9
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
10
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
11
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
12
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
13
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
14
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
15
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
16
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
17
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: