MCID: MDL027
MIFTS: 10

Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism

Aliases & Classifications for Midline Malformations, Multiple, with Limb Abnormalities and...

MalaCards integrated aliases for Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism:

Name: Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism 56
Dincsoy Salih Patel Syndrome 71
Dincsoy Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
midline malformations, multiple, with limb abnormalities and hypopituitarism:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 601016
MedGen 41 C1832874
UMLS 71 C1832874

Summaries for Midline Malformations, Multiple, with Limb Abnormalities and...

MalaCards based summary : Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism, is also known as dincsoy salih patel syndrome. Related phenotypes are cleft palate and micromelia

More information from OMIM: 601016

Related Diseases for Midline Malformations, Multiple, with Limb Abnormalities and...

Symptoms & Phenotypes for Midline Malformations, Multiple, with Limb Abnormalities and...

Human phenotypes related to Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 micromelia 31 HP:0002983
3 anterior hypopituitarism 31 HP:0000830
4 depressed nasal ridge 31 HP:0000457
5 cleft upper lip 31 HP:0000204
6 hypotelorism 31 HP:0000601
7 ambiguous genitalia 31 HP:0000062
8 camptodactyly 31 HP:0012385
9 overlapping fingers 31 HP:0010557
10 limb undergrowth 31 HP:0009826
11 dysplastic corpus callosum 31 HP:0006989
12 joint contracture of the hand 31 HP:0009473

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
ambiguous genitalia

Skeletal Hands:
camptodactyly
overlapping fingers
no polydactyly
digital anomalies
flexion finger deformity

Head And Neck Nose:
flat nose

Neurologic Central Nervous System:
dysgenesis of corpus callosum

Head And Neck Eyes:
hypotelorism

Genitourinary External Genitalia Female:
ambiguous genitalia

Endocrine Features:
hypopituitarism

Skeletal Limbs:
short limbs
radiolucent midshaft tibial notch

Clinical features from OMIM:

601016

Drugs & Therapeutics for Midline Malformations, Multiple, with Limb Abnormalities and...

Search Clinical Trials , NIH Clinical Center for Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism

Genetic Tests for Midline Malformations, Multiple, with Limb Abnormalities and...

Anatomical Context for Midline Malformations, Multiple, with Limb Abnormalities and...

Publications for Midline Malformations, Multiple, with Limb Abnormalities and...

Articles related to Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism:

# Title Authors PMID Year
1
Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. 56
7778599 1995

Variations for Midline Malformations, Multiple, with Limb Abnormalities and...

Expression for Midline Malformations, Multiple, with Limb Abnormalities and...

Search GEO for disease gene expression data for Midline Malformations, Multiple, with Limb Abnormalities and Hypopituitarism.

Pathways for Midline Malformations, Multiple, with Limb Abnormalities and...

GO Terms for Midline Malformations, Multiple, with Limb Abnormalities and...

Sources for Midline Malformations, Multiple, with Limb Abnormalities and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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