Stimmler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: STIMMLER SYNDROME
Number of Symptoms 15
OrphanetNr: 3199
OMIM Id: 202900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
4
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
5
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
6
 (HPO:0000819) Diabetes mellitus 131 / 7739
7
 (HPO:0005978) Type II diabetes mellitus Very frequent [Orphanet] 68 / 7739
8
 (HPO:0003510) Severe short stature 90 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
11
 (HPO:0003128) Lactic acidosis 116 / 7739
12
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
13
 (OMIM) Alaninuria 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: