MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM

General Information (adopted from Orphanet):

Synonyms, Signs: DINCSOY SYNDROME
Number of Symptoms 15
OrphanetNr:
OMIM Id: 601016
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:0000062) Ambiguous genitalia 74 / 7739
2
 (HPO:0000601) Hypotelorism 83 / 7739
3
 (HPO:0000457) Depressed nasal ridge 85 / 7739
4
 (HPO:0000204) Cleft upper lip 193 / 7739
5
 (HPO:0000202) Oral cleft 120 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000830) Anterior hypopituitarism 9 / 7739
8
 (HPO:0009473) Joint contracture of the hand 84 / 7739
9
 (HPO:0012385) Camptodactyly 113 / 7739
10
 (HPO:0002983) Micromelia 130 / 7739
11
 (HPO:0010557) Overlapping fingers 9 / 7739
12
 (OMIM) Short limbs. Digital anomalies. Camptodactyly. Overlapping fingers. Flexion finger deformity. No polydactyly. 1 / 7739
13
 (OMIM) Radiolucent midshaft tibial notch. 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0006989) Dysplastic corpus callosum 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: