RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs: MIRHOSSEINI-HOLMES-WALTON SYNDROME
Number of Symptoms 19
OrphanetNr:
OMIM Id: 268050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000505) Visual impairment 297 / 7739
4
(HPO:0000488) Retinopathy 75 / 7739
5
(HPO:0000518) Cataract 454 / 7739
6
(HPO:0000545) Myopia 286 / 7739
7
(HPO:0001146) Pigmentary retinal degeneration 15 / 7739
8
(HPO:0007663) Reduced visual acuity 100 / 7739
9
(HPO:0010864) Intellectual disability, severe 120 / 7739
10
(HPO:0006887) Intellectual disability, progressive 68 / 7739
11
(HPO:0001166) Arachnodactyly 62 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0004283) Narrow palm 8 / 7739
14
(HPO:0001786) Narrow foot 11 / 7739
15
(HPO:0001382) Joint hypermobility 231 / 7739
16
(HPO:0008848) Moderately short stature 6 / 7739
17
(HPO:0001956) Truncal obesity 39 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Prominent incisors 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mirhosseini et al. (1972) described 2 brothers with pigmentary retinal degeneration, cataract, microcephaly, severe mental retardation, hyperextensible joints, scoliosis, and arachnodactyly. One had hypogonadism. The parents were apparently not related. Mendez et al. (1985) reported the cases of ...