MCID: MNT315
MIFTS: 16

Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Microcephaly, Growth Retardation, Joint...

MalaCards integrated aliases for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

Name: Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 57 70
Kondoh Syndrome 57 13

Characteristics:

OMIM®:

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


HPO:

31
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Microcephaly, Growth Retardation, Joint...

MalaCards based summary : Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism, is also known as kondoh syndrome. An important gene associated with Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism is KONDS (Kondoh Syndrome). Affiliated tissues include eye, and related phenotypes are intellectual disability and ptosis

More information from OMIM: 606242

Related Diseases for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Symptoms & Phenotypes for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Human phenotypes related to Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ptosis 31 HP:0000508
3 abnormal facial shape 31 HP:0001999
4 microcephaly 31 HP:0000252
5 thick eyebrow 31 HP:0000574
6 short stature 31 HP:0004322
7 intrauterine growth retardation 31 HP:0001511
8 thin upper lip vermilion 31 HP:0000219
9 long philtrum 31 HP:0000343
10 preaxial hand polydactyly 31 HP:0001177
11 sparse hair 31 HP:0008070
12 knee flexion contracture 31 HP:0006380
13 widow's peak 31 HP:0000349
14 pear-shaped nose 31 HP:0000447
15 atopic dermatitis 31 HP:0001047
16 interphalangeal joint contracture of finger 31 HP:0001220

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis

Growth Height:
short stature

Skin Nails Hair Hair:
sparse hair
widow's peak
thick eyebrows

Head And Neck Mouth:
thin upper lip

Skeletal Limbs:
knee contracture

Skeletal Hands:
polydactyly, preaxial
interphalangeal joint contractures

Head And Neck Head:
microcephaly

Head And Neck Nose:
long philtrum
pear-shaped nose
narrow alae nasi

Skin Nails Hair Skin:
atopic dermatitis

Neurologic Central Nervous System:
mental retardation

Growth Other:
prenatal-onset growth retardation

Clinical features from OMIM®:

606242 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism

Genetic Tests for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Anatomical Context for Mental Retardation, Microcephaly, Growth Retardation, Joint...

MalaCards organs/tissues related to Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

40
Eye

Publications for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Articles related to Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

# Title Authors PMID Year
1
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32. 57
21092079 2010
2
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. 57
19291767 2009
3
Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome? 57
11471174 2001
4
A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. 57
3109242 1987

Variations for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Expression for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Search GEO for disease gene expression data for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism.

Pathways for Mental Retardation, Microcephaly, Growth Retardation, Joint...

GO Terms for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Sources for Mental Retardation, Microcephaly, Growth Retardation, Joint...

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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