HINCONS
MCID: HTT003
MIFTS: 13

Hiatt-Neu-Cooper Neurodevelopmental Syndrome (HINCONS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

MalaCards integrated aliases for Hiatt-Neu-Cooper Neurodevelopmental Syndrome:

Name: Hiatt-Neu-Cooper Neurodevelopmental Syndrome 57
Hincons 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM® 57 619311

Summaries for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

OMIM® : 57 Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) is characterized by global developmental delay with delayed walking or inability to walk and impaired intellectual development with poor or absent speech. Affected individuals have axial hypotonia and dysmorphic facies. Additional more variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities, such as dysplastic corpus callosum or polymicrogyria (summary by Hiatt et al., 2018). (619311) (Updated 20-May-2021)

MalaCards based summary : Hiatt-Neu-Cooper Neurodevelopmental Syndrome, is also known as hincons. An important gene associated with Hiatt-Neu-Cooper Neurodevelopmental Syndrome is RALA (RAS Like Proto-Oncogene A). Affiliated tissues include eye and brain.

Related Diseases for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Symptoms & Phenotypes for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
global developmental delay
inability to walk
delayed myelination
dysplastic corpus callosum
hypotonia
more
Head And Neck Face:
prominent forehead
short philtrum
pointed chin
broad forehead
bitemporal narrowing
more
Abdomen Gastrointestinal:
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Skeletal Feet:
fifth toe clinodactyly

Growth Other:
poor overall growth

Head And Neck Eyes:
ptosis
poor eye contact
esotropia
epicanthal folds
horizontal eyebrows
more
Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
anteverted nares

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

Head And Neck Mouth:
drooling
thin upper lip
exaggerated cupid bow

Skeletal Hands:
fifth finger clinodactyly
long thin fingers

Skeletal:
hyperextensible joints

Clinical features from OMIM®:

619311 (Updated 20-May-2021)

Drugs & Therapeutics for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Genetic Tests for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Anatomical Context for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

MalaCards organs/tissues related to Hiatt-Neu-Cooper Neurodevelopmental Syndrome:

40
Eye, Brain

Publications for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Articles related to Hiatt-Neu-Cooper Neurodevelopmental Syndrome:

# Title Authors PMID Year
1
RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype. 57
30761613 2019
2
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 57
30500825 2018

Variations for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Expression for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Search GEO for disease gene expression data for Hiatt-Neu-Cooper Neurodevelopmental Syndrome.

Pathways for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

GO Terms for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

Sources for Hiatt-Neu-Cooper Neurodevelopmental Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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