MCID: INT339
MIFTS: 10

Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature

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 58 6
Iddabs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


Classifications:



External Ids:

OMIM 58 618342

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

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.

Description from OMIM: 618342

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)

Growth Height:
short stature

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

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
retrognathia
short philtrum
dysmorphic features (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
short temper

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:

42
Eye

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

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 Assembly Location
1 PUS7 NM_019042.5(PUS7): c.89_90del (p.Thr30Lysfs) deletion Pathogenic GRCh38 Chromosome 7, 105508423: 105508424
2 PUS7 NM_019042.5(PUS7): c.89_90del (p.Thr30Lysfs) deletion Pathogenic GRCh37 Chromosome 7, 105148870: 105148871
3 PUS7 NM_019042.5(PUS7): c.1348C> T (p.Arg450Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 105470738: 105470738
4 PUS7 NM_019042.5(PUS7): c.1348C> T (p.Arg450Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 105111185: 105111185
5 PUS7 NM_019042.4(PUS7): c.(1757+1_1758-1)_(1848+1_1849-1)del deletion Pathogenic
6 PUS7 NM_019042.5(PUS7): c.1507G> T (p.Asp503Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 105108802: 105108802
7 PUS7 NM_019042.5(PUS7): c.1507G> T (p.Asp503Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 105468355: 105468355
8 PUS7 NM_019042.5(PUS7): c.329_332delCTGA (p.Thr110Argfs) deletion Pathogenic GRCh37 Chromosome 7, 105148628: 105148631
9 PUS7 NM_019042.5(PUS7): c.329_332delCTGA (p.Thr110Argfs) deletion Pathogenic GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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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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