MCID: MND028
MIFTS: 12

Mandibulofacial Dysostosis with Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Mandibulofacial Dysostosis with Mental Retardation

MalaCards integrated aliases for Mandibulofacial Dysostosis with Mental Retardation:

Name: Mandibulofacial Dysostosis with Mental Retardation 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of two brothers


HPO:

31
mandibulofacial dysostosis with mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mandibulofacial Dysostosis with Mental Retardation

MalaCards based summary : Mandibulofacial Dysostosis with Mental Retardation An important gene associated with Mandibulofacial Dysostosis with Mental Retardation is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Related phenotypes are intellectual disability and eeg abnormality

More information from OMIM: 248400

Related Diseases for Mandibulofacial Dysostosis with Mental Retardation

Symptoms & Phenotypes for Mandibulofacial Dysostosis with Mental Retardation

Human phenotypes related to Mandibulofacial Dysostosis with Mental Retardation:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 eeg abnormality 31 HP:0002353
3 high palate 31 HP:0000218
4 micrognathia 31 HP:0000347
5 wide mouth 31 HP:0000154
6 downslanted palpebral fissures 31 HP:0000494
7 malar flattening 31 HP:0000272
8 lower eyelid coloboma 31 HP:0000652
9 abnormality of the pinna 31 HP:0000377
10 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
high palate
macrostomia

Head And Neck Face:
mandibulofacial dysostosis
malar hypoplasia

Head And Neck Ears:
simple ears
abnormal ear drum
hearing loss, unilateral

Skin Nails Hair Hair:
atypical hair growth

Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures

Skeletal Skull:
small mandible
poorly developed maxillae
small malar bones
incomplete zygomatic arches

Neurologic Central Nervous System:
abnormal eeg
mental retardation (iq 33)

Laboratory Abnormalities:
normal male karyotype

Clinical features from OMIM®:

248400 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mandibulofacial Dysostosis with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis with Mental Retardation

Genetic Tests for Mandibulofacial Dysostosis with Mental Retardation

Anatomical Context for Mandibulofacial Dysostosis with Mental Retardation

Publications for Mandibulofacial Dysostosis with Mental Retardation

Articles related to Mandibulofacial Dysostosis with Mental Retardation:

# Title Authors PMID Year
1
Mandibulo-facial dysostosis (Berry-Franceschetti syndrome). 57
13789362 1961

Variations for Mandibulofacial Dysostosis with Mental Retardation

ClinVar genetic disease variations for Mandibulofacial Dysostosis with Mental Retardation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic 7904 rs61750130 GRCh37: 1:94496666-94496666
GRCh38: 1:94031110-94031110

Expression for Mandibulofacial Dysostosis with Mental Retardation

Search GEO for disease gene expression data for Mandibulofacial Dysostosis with Mental Retardation.

Pathways for Mandibulofacial Dysostosis with Mental Retardation

GO Terms for Mandibulofacial Dysostosis with Mental Retardation

Sources for Mandibulofacial Dysostosis with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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