IDDABS
MCID: INT339
MIFTS: 17

Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature (IDDABS)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Abnormal Behavior,...

MalaCards integrated aliases for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

Name: Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 57 74 6
Iddabs 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

32
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618342
MedGen 42 CN258232

Summaries for Intellectual Developmental Disorder with Abnormal Behavior,...

UniProtKB/Swiss-Prot : 74 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature: An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss.

MalaCards based summary : Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature, is also known as iddabs. An important gene associated with Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature is PUS7 (Pseudouridine Synthase 7). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and generalized hypotonia

More information from OMIM: 618342

Related Diseases for Intellectual Developmental Disorder with Abnormal Behavior,...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Abnormal Behavior,...

Human phenotypes related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 very rare (1%) HP:0000407
2 generalized hypotonia 32 very rare (1%) HP:0001290
3 delayed ability to walk 32 very rare (1%) HP:0031936
4 low-set ears 32 HP:0000369
5 high palate 32 HP:0000218
6 global developmental delay 32 HP:0001263
7 wide nasal bridge 32 HP:0000431
8 thick vermilion border 32 HP:0012471
9 microcephaly 32 HP:0000252
10 smooth philtrum 32 HP:0000319
11 short stature 32 HP:0004322
12 open mouth 32 HP:0000194
13 short philtrum 32 HP:0000322
14 hyperactivity 32 HP:0000752
15 highly arched eyebrow 32 HP:0002553
16 retrognathia 32 HP:0000278
17 epicanthus 32 HP:0000286
18 everted lower lip vermilion 32 HP:0000232
19 deeply set eye 32 HP:0000490
20 aggressive behavior 32 HP:0000718
21 downslanted palpebral fissures 32 HP:0000494
22 hypodontia 32 HP:0000668
23 decreased body weight 32 HP:0004325

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggressive behavior
short temper

Neurologic Central Nervous System:
developmental delay
poor or absent speech
impaired intellectual development, moderate to severe
moderate intellectual disability
delayed walking (in some patients)

Head And Neck Nose:
broad nasal root

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (down to -6.6 sd)

Head And Neck Face:
smooth philtrum
short philtrum
retrognathia
dysmorphic features (in some patients)

Head And Neck Mouth:
open mouth
high-arched palate
everted lower lip
full lips

Head And Neck Teeth:
hypodontia
abnormal dentition
misaligned teeth

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
deep-set eyes
arched eyebrows

Growth Weight:
low weight

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM:

618342

Drugs & Therapeutics for Intellectual Developmental Disorder with Abnormal Behavior,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature

Genetic Tests for Intellectual Developmental Disorder with Abnormal Behavior,...

Anatomical Context for Intellectual Developmental Disorder with Abnormal Behavior,...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

41
Eye

Publications for Intellectual Developmental Disorder with Abnormal Behavior,...

Articles related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

# Title Authors PMID Year
1
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. 8 71
30778726 2019
2
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 8 71
30526862 2018

Variations for Intellectual Developmental Disorder with Abnormal Behavior,...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PUS7 NM_019042.5(PUS7): c.89_90del (p.Thr30fs) deletion Pathogenic 7:105148870-105148871 7:105508423-105508424
2 PUS7 NM_019042.5(PUS7): c.1348C> T (p.Arg450Ter) single nucleotide variant Pathogenic 7:105111185-105111185 7:105470738-105470738
3 PUS7 NM_019042.4(PUS7): c.(1757+1_1758-1)_(1848+1_1849-1)del deletion Pathogenic
4 PUS7 NM_019042.5(PUS7): c.1507G> T (p.Asp503Tyr) single nucleotide variant Pathogenic 7:105108802-105108802 7:105468355-105468355
5 PUS7 NM_019042.5(PUS7): c.329_332del (p.Thr110fs) deletion Pathogenic 7:105148628-105148631 7:105508181-105508184

Expression for Intellectual Developmental Disorder with Abnormal Behavior,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature.

Pathways for Intellectual Developmental Disorder with Abnormal Behavior,...

GO Terms for Intellectual Developmental Disorder with Abnormal Behavior,...

Sources for Intellectual Developmental Disorder with Abnormal Behavior,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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