3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 616271
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001999) Abnormal facial shape rare [HPO:skoehler] 169 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000518) Cataract hallmark [HPO:skoehler] 454 / 7739
4
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
9
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
10
 (HPO:0001263) Global developmental delay hallmark [HPO:skoehler] 853 / 7739
11
 (HPO:0011968) Feeding difficulties 240 / 7739
12
 (HPO:0001510) Growth delay 295 / 7739
13
 (HPO:0001875) Neutropenia hallmark [HPO:skoehler] 83 / 7739
14
 (HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0002059) Cerebral atrophy 171 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: