NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr:
OMIM Id: 616263
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:0000049) Shawl scrotum 31 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000248) Brachycephaly 222 / 7739
7
 (HPO:0000577) Exotropia 43 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0000821) Hypothyroidism 141 / 7739
13
 (HPO:0001762) Talipes equinovarus 309 / 7739
14
 (HPO:0009623) Proximal placement of thumb 50 / 7739
15
 (HPO:0002827) Hip dislocation 94 / 7739
16
 (HPO:0100732) Pancreatic fibrosis 12 / 7739
17
 (HPO:0002570) Steatorrhea 31 / 7739
18
 (HPO:0002240) Hepatomegaly 467 / 7739
19
 (HPO:0001395) Hepatic fibrosis 67 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0002460) Distal muscle weakness 122 / 7739
23
 (HPO:0001252) Muscular hypotonia 990 / 7739
24
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: