MCID: INT298
MIFTS: 16

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Categories: Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases, Metabolic 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 59
Autosomal Recessive Intellectual Disability Due to Trappc9 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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 thin upper lip vermilion and brachycephaly

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:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
2 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
5 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
6 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 narrow forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000341
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 congenital hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000851
12 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
13 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
14 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
15 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
16 malignant hyperthermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002047
17 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
18 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
19 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
20 large fleshy ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0002265
21 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
22 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
23 underdeveloped supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0009891
24 multifocal cerebral white matter abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0007052
25 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
26 congenital stationary night blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007642
27 horizontal eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0011228
28 abnormality of the pinna 59 Frequent (79-30%)
29 seizures 59 Frequent (79-30%)
30 abnormal facial shape 59 Very frequent (99-80%)
31 abnormality of brain morphology 59 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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