Infantile neuroaxonal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: INAD
INAD1
Seitelberger disease
Number of Symptoms 37
OrphanetNr: 35069
OMIM Id: 256600
610217
ICD-10: G23.0
UMLs:
MeSH:
MedDRA:
Snomed: 52713000

Prevalence, inheritance and age of onset:

Prevalence: > 150 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
PLA2G6-associated neurodegeneration
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0003196) Short nose 264 / 7739
3
 (HPO:0002007) Frontal bossing 366 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
6
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
9
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
10
 (HPO:0000648) Optic atrophy 238 / 7739
11
 (HPO:0000365) Hearing impairment 539 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
14
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
15
 (HPO:0001284) Areflexia 30% [HPO:skoehler] 198 / 7739
16
 (HPO:0001347) Hyperreflexia 363 / 7739
17
 (HPO:0000762) Decreased nerve conduction velocity 30% [HPO:skoehler] 36 / 7739
18
 (HPO:0002376) Developmental regression 74 / 7739
19
 (HPO:0001251) Ataxia 413 / 7739
20
 (HPO:0002317) Unsteady gait 45 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
23
 (HPO:0002510) Spastic tetraplegia 54 / 7739
24
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
25
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
26
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
27
 (HPO:0003324) Generalized muscle weakness 48 / 7739
28
 (HPO:0003444) EMG: chronic denervation signs 5 / 7739
29
 (HPO:0002059) Cerebral atrophy 171 / 7739
30
 (HPO:0002180) Neurodegeneration 31 / 7739
31
 (HPO:0002171) Gliosis 48 / 7739
32
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
33
 (HPO:0003593) Infantile onset Typical [HPO] 249 / 7739
34
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (HPO:0001272) Cerebellar atrophy 197 / 7739
37
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: