IDDSSAD
MCID: INT347
MIFTS: 13

Intellectual Developmental Disorder with Severe Speech and Ambulation Defects (IDDSSAD)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Severe Speech and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

Name: Intellectual Developmental Disorder with Severe Speech and Ambulation Defects 57 6
Iddssad 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM 57 618470

Summaries for Intellectual Developmental Disorder with Severe Speech and...

OMIM : 57 Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by Bell et al., 2019). (618470)

MalaCards based summary : Intellectual Developmental Disorder with Severe Speech and Ambulation Defects, is also known as iddssad. An important gene associated with Intellectual Developmental Disorder with Severe Speech and Ambulation Defects is ACTL6B (Actin Like 6B).

Related Diseases for Intellectual Developmental Disorder with Severe Speech and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Severe Speech and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Face:
prominent forehead
wide forehead

Head And Neck Nose:
bulbous nose

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
short distal phalanges

Head And Neck Head:
small head circumference

Neurologic Central Nervous System:
global developmental delay
absent speech
wide-based gait
thin corpus callosum
generalized cerebral atrophy
more
Head And Neck Mouth:
wide mouth

Head And Neck Teeth:
diastema

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypies

Skin Nails Hair Nails:
small nails

Clinical features from OMIM:

618470

Drugs & Therapeutics for Intellectual Developmental Disorder with Severe Speech and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects

Genetic Tests for Intellectual Developmental Disorder with Severe Speech and...

Anatomical Context for Intellectual Developmental Disorder with Severe Speech and...

Publications for Intellectual Developmental Disorder with Severe Speech and...

Articles related to Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

# Title Authors PMID Year
1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. 8 71
31031012 2019

Variations for Intellectual Developmental Disorder with Severe Speech and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACTL6B NM_016188.5(ACTL6B): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs1131692228 7:100244260-100244260 7:100646637-100646637
2 ACTL6B NM_016188.5(ACTL6B): c.230A> G (p.Asp77Gly) single nucleotide variant Pathogenic 7:100253082-100253082 7:100655459-100655459

Expression for Intellectual Developmental Disorder with Severe Speech and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Severe Speech and Ambulation Defects.

Pathways for Intellectual Developmental Disorder with Severe Speech and...

GO Terms for Intellectual Developmental Disorder with Severe Speech and...

Sources for Intellectual Developmental Disorder with Severe Speech and...

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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