MCID: INT226
MIFTS: 17

Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

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

Aliases & Classifications for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

MalaCards integrated aliases for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome:

Name: Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 60
Der(8)t(8;12) 60

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-seizures-macrocephaly-obesity syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

MalaCards based summary : Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome, is also known as der(8)t(8;12). Affiliated tissues include tongue and pineal, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Symptoms & Phenotypes for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Human phenotypes related to Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
4 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
5 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
7 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
8 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
9 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
10 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
11 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
12 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
13 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
14 periorbital fullness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000629
15 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
16 wolff-parkinson-white syndrome 60 33 hallmark (90%) Very frequent (99-80%) HP:0001716
17 mitral valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634
18 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
19 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
20 amblyopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000646
21 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
22 astigmatism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000483
23 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
24 hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001269
25 enuresis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000805
26 exotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000577
27 broad-based gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002136
28 heat intolerance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002046
29 abnormality of the pineal gland 60 33 hallmark (90%) Very frequent (99-80%) HP:0012680
30 tongue thrusting 60 33 hallmark (90%) Very frequent (99-80%) HP:0100703
31 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
32 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
33 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
34 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
35 thick lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000179
36 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
37 inverted nipples 60 33 occasional (7.5%) Occasional (29-5%) HP:0003186
38 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
39 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
40 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
41 seborrheic dermatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001051
42 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
43 large forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0002003
44 convex nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000444
45 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
46 posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000358
47 underdeveloped superior crus of antihelix 60 33 occasional (7.5%) Occasional (29-5%) HP:0011246
48 strabismus 60 Very frequent (99-80%)
49 abnormality of the foot 60 Very frequent (99-80%)
50 eczema 60 Very frequent (99-80%)

Drugs & Therapeutics for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Genetic Tests for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Anatomical Context for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

MalaCards organs/tissues related to Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome:

42
Tongue, Pineal

Publications for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Variations for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Expression for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Search GEO for disease gene expression data for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome.

Pathways for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

GO Terms for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

Sources for Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome

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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