MCID: INT298
MIFTS: 15

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards integrated aliases for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

Name: Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 60
Autosomal Recessive Intellectual Disability Due to Trappc9 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards based summary : Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome, is also known as autosomal recessive intellectual disability due to trappc9 deficiency. An important gene associated with Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome is TRAPPC9 (Trafficking Protein Particle Complex 9). Affiliated tissues include brain, and related phenotypes are hypertelorism and obesity

Related Diseases for Intellectual Disability-Obesity-Brain Malformations-Facial...

Symptoms & Phenotypes for Intellectual Disability-Obesity-Brain Malformations-Facial...

Human phenotypes related to Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
6 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
7 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
8 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
9 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
10 malignant hyperthermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002047
11 cerebellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001321
12 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
13 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
14 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
15 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
16 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
17 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
18 hypoplasia of the corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002079
19 underdeveloped supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0009891
20 congenital stationary night blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007642
21 multifocal cerebral white matter abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0007052
22 congenital hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000851
23 narrow forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000341
24 large fleshy ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0002265
25 generalized myoclonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002123
26 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
27 horizontal eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0011228
28 seizures 60 Frequent (79-30%)
29 abnormal facial shape 60 Very frequent (99-80%)
30 abnormality of the pinna 60 Frequent (79-30%)
31 abnormality of brain morphology 60 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability-Obesity-Brain Malformations-Facial...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Genetic Tests for Intellectual Disability-Obesity-Brain Malformations-Facial...

Anatomical Context for Intellectual Disability-Obesity-Brain Malformations-Facial...

MalaCards organs/tissues related to Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome:

42
Brain

Publications for Intellectual Disability-Obesity-Brain Malformations-Facial...

Variations for Intellectual Disability-Obesity-Brain Malformations-Facial...

Expression for Intellectual Disability-Obesity-Brain Malformations-Facial...

Search GEO for disease gene expression data for Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome.

Pathways for Intellectual Disability-Obesity-Brain Malformations-Facial...

GO Terms for Intellectual Disability-Obesity-Brain Malformations-Facial...

Sources for Intellectual Disability-Obesity-Brain Malformations-Facial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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