Hepatic fibrosis - renal cysts - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr: 2031
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease
Genetic parenchymatous liver disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare parenchymatous liver disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012581) Solitary renal cyst Frequent [Orphanet] 7 / 7739
2
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
3
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
4
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
5
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
6
 (HPO:0000162) Glossoptosis Frequent [Orphanet] 26 / 7739
7
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
8
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
9
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
10
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
11
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
12
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
13
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
14
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
15
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
16
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
17
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
18
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
19
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
20
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
21
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
22
 (HPO:0002435) Meningocele Frequent [Orphanet] 23 / 7739
23
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [Orphanet] 16 / 7739
24
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
25
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
26
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
27
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: