MCID: INT330
MIFTS: 9

Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Hypertelorism and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

Name: Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies 57 6
Iddhdf 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one patient with a confirmed mutation in the ccnk gene has been reported (last curated october 2018)
some patients with similar features have a larger deletion involving several genes, including ccnk


Classifications:



External Ids:

OMIM 57 618147

Summaries for Intellectual Developmental Disorder with Hypertelorism and...

MalaCards based summary : Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies, is also known as iddhdf. An important gene associated with Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies is CCNK (Cyclin K).

Description from OMIM: 618147

Related Diseases for Intellectual Developmental Disorder with Hypertelorism and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Hypertelorism and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
long palpebral fissures
thin eyebrows
abnormal palpebral fissures

Neurologic Central Nervous System:
global developmental delay
poor or absent speech
impaired intellectual development
delayed fine and gross motor skills

Head And Neck Nose:
thick nasal alae
broad nasal tip
broad nasal bridge

Head And Neck Mouth:
thin upper vermilion

Head And Neck Head:
macrocephaly, mild

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysmorphic ears

Head And Neck Face:
long philtrum
high anterior hairline
narrow jaw

Skeletal Feet:
flat feet

Skeletal Hands:
tapered fingers

Growth Other:
overgrowth, generalized


Clinical features from OMIM:

618147

Drugs & Therapeutics for Intellectual Developmental Disorder with Hypertelorism and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies

Genetic Tests for Intellectual Developmental Disorder with Hypertelorism and...

Anatomical Context for Intellectual Developmental Disorder with Hypertelorism and...

Publications for Intellectual Developmental Disorder with Hypertelorism and...

Variations for Intellectual Developmental Disorder with Hypertelorism and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCNK NM_001099402.1(CCNK): c.331A> G (p.Lys111Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 99495549: 99495549
2 CCNK NM_001099402.1(CCNK): c.331A> G (p.Lys111Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 99961886: 99961886

Expression for Intellectual Developmental Disorder with Hypertelorism and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies.

Pathways for Intellectual Developmental Disorder with Hypertelorism and...

GO Terms for Intellectual Developmental Disorder with Hypertelorism and...

Sources for Intellectual Developmental Disorder with Hypertelorism and...

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
Content
Loading form....