Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 24
OrphanetNr: 73246
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[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:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
2
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
4
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
5
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
6
(HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
7
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
9
(HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
10
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
11
(HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
12
(HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
13
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
14
(HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
15
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
16
(HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
17
(HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
18
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
19
(HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
20
(HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
21
(HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
22
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
23
(HPO:0012719) Functional abnormality of the gastrointestinal tract Very frequent [Orphanet] 17 / 7739
24
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: