Autosomal recessive chorioretinopathy-microcephaly

General Information (adopted from Orphanet):

Synonyms, Signs: Pseudotoxoplasmosis syndrome
Number of Symptoms 42
OrphanetNr: 2518
OMIM Id: 251270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Nervous system anomaly with eye involvement
 -Rare eye disease
 -Rare genetic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
2
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
3
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000307) Pointed chin Frequent [Orphanet] 45 / 7739
6
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
7
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000541) Retinal detachment 87 / 7739
10
 (HPO:0000505) Visual impairment 297 / 7739
11
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
12
 (HPO:0001145) Chorioretinopathy 3 / 7739
13
 (HPO:0000518) Cataract 454 / 7739
14
 (HPO:0000556) Retinal dystrophy 65 / 7739
15
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
16
 (HPO:0000639) Nystagmus Frequent [Orphanet] rare [HPO:probinson] 555 / 7739
17
 (HPO:0008052) Retinal fold 4 / 7739
18
 (HPO:0001139) Choroideremia 7 / 7739
19
 (HPO:0000543) Optic disc pallor 67 / 7739
20
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
21
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
22
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
23
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
24
 (HPO:0001263) Global developmental delay 853 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0001250) Seizures Frequent [Orphanet] rare [HPO:skoehler] 1245 / 7739
27
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
28
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
29
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
32
 (MedDRA:10038894) Retinal pigmentation 4 / 7739
33
 (HPO:0002059) Cerebral atrophy 171 / 7739
34
 (HPO:0009879) Cortical gyral simplification 24 / 7739
35
 (HPO:0001302) Pachygyria 60 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
38
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
40
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
41
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 72 / 7739
42
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The consistent association of chorioretinopathy in the microcephalic patients reported by McKusick et al. (1966) indicated the existence of an entity distinct from simple microcephaly (251200). The cases of McKusick et al. (1966) were from an inbred conservative ...
Molecular genetics OMIM In 6 Pennsylvania Mennonite patients with microcephaly and chorioretinopathy mapping to chromosome 22q22, including 4 patients originally studied by McKusick et al. (1966), Puffenberger et al. (2012) identified homozygosity for a read-through variant in the TUBGCP6 gene (X1820G; ...