Cataract - intellectual deficit - anal atresia - urinary defects

General Information (adopted from Orphanet):

Synonyms, Signs: Karandikar-Maria-Kamble syndrome
Number of Symptoms 12
OrphanetNr: 1381
OMIM Id:
ICD-10: Q87.8
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: 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
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
(HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
3
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
(HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
5
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
6
(HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
7
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
8
(HPO:0000517) Abnormality of the lens Occasional [Orphanet] 12 / 7739
9
(HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
10
(HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
11
(HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
12
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: