MCID: MNT237
MIFTS: 27

Mental Retardation with Language Impairment and with or Without Autistic Features

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Mental Retardation with Language Impairment and with or Without...

MalaCards integrated aliases for Mental Retardation with Language Impairment and with or Without Autistic Features:

Name: Mental Retardation with Language Impairment and with or Without Autistic Features 54 29
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 56
Mental Retardation with Language Impairment and Autistic Features 71
Mrliaf 71

Characteristics:

Orphanet epidemiological data:

56
intellectual disability-severe speech delay-mild dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

32
mental retardation with language impairment and with or without autistic features:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Mental Retardation with Language Impairment and with or Without...

OMIM : 54
Mental retardation with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013). (613670)

MalaCards based summary : Mental Retardation with Language Impairment and with or Without Autistic Features, also known as intellectual disability-severe speech delay-mild dysmorphism syndrome, is related to intellectual disability-severe speech delay-mild dysmorphism syndrome and mental retardation with language impairment and autistic features, and has symptoms including prominent forehead, short nose and broad nasal tip. An important gene associated with Mental Retardation with Language Impairment and with or Without Autistic Features is FOXP1 (Forkhead Box P1). The drugs Acamprosate and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include tongue.

UniProtKB/Swiss-Prot : 71 Mental retardation with language impairment and autistic features: A developmental disorder characterized by mild to moderate mental retardation, language impairment, and autistic features. Patients show global delay, delayed walking, severely delayed speech development, and behavioral abnormalities, including irritability, hyperactivity, aggression, and stereotypical rigid behaviors.

Related Diseases for Mental Retardation with Language Impairment and with or Without...

Diseases related to Mental Retardation with Language Impairment and with or Without Autistic Features via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.7
2 mental retardation with language impairment and autistic features 12.5

Symptoms & Phenotypes for Mental Retardation with Language Impairment and with or Without...

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

Head And Neck- Head:
prominent forehead
large head

Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggression
autistic features (in some patients)
compulsions
behavioral problems (in some patients)
more
Head And Neck- Mouth:
open mouth
oromotor difficulties
lip protrusion
tongue apraxia

Head And Neck- Face:
retrognathia, mild

Head And Neck- Eyes:
nystagmus
strabismus
downslanting palpebral fissures
hypertelorism

Head And Neck- Nose:
short nose
broad nasal tip

Neurologic- Central Nervous System:
delayed walking
mental retardation, mild to moderate
delayed myelination (in some patients)
delayed gross motor development
delayed speech development, severe
more
Growth- Weight:
obesity (in some patients)

Skin Nails & Hair- Hair:
frontal hair upsweep


Clinical features from OMIM:

613670

Human phenotypes related to Mental Retardation with Language Impairment and with or Without Autistic Features:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 prominent forehead 32 HP:0011220
2 short nose 32 HP:0003196
3 broad nasal tip 32 HP:0000455
4 macrocephaly 32 HP:0000256
5 intellectual disability 32 HP:0001249
6 hyperactivity 32 HP:0000752
7 aggressive behavior 32 HP:0000718
8 open mouth 32 HP:0000194
9 downslanted palpebral fissures 32 HP:0000494
10 obesity 32 occasional (7.5%) HP:0001513
11 delayed gross motor development 32 HP:0002194
12 delayed speech and language development 32 HP:0000750
13 stereotypy 32 HP:0000733

Drugs & Therapeutics for Mental Retardation with Language Impairment and with or Without...

Drugs for Mental Retardation with Language Impairment and with or Without Autistic Features (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acamprosate Approved, Investigational Phase 3 77337-76-9 71158
2
Ethanol Approved Phase 3 64-17-5 702

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
2 Phenotypic Specific Communication Intervention for Children With Down Syndrome Recruiting NCT02158390

Search NIH Clinical Center for Mental Retardation with Language Impairment and with or Without Autistic Features

Genetic Tests for Mental Retardation with Language Impairment and with or Without...

Genetic tests related to Mental Retardation with Language Impairment and with or Without Autistic Features:

id Genetic test Affiliating Genes
1 Mental Retardation with Language Impairment and with or Without Autistic Features 29

Anatomical Context for Mental Retardation with Language Impairment and with or Without...

MalaCards organs/tissues related to Mental Retardation with Language Impairment and with or Without Autistic Features:

39
Tongue

Publications for Mental Retardation with Language Impairment and with or Without...

Variations for Mental Retardation with Language Impairment and with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation with Language Impairment and with or Without Autistic Features:

71
id Symbol AA change Variation ID SNP ID
1 FOXP1 p.Arg465Gly VAR_075247 rs869025202
2 FOXP1 p.Arg514Cys VAR_075248 rs869025203
3 FOXP1 p.Trp534Arg VAR_075249 rs587777855

ClinVar genetic disease variations for Mental Retardation with Language Impairment and with or Without Autistic Features:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXP1 NC_000003.10: g.(71109689_?)_(?_71508061)del deletion Pathogenic NCBI36 Chromosome 3, 71109689: 71508061
2 FOXP1 NM_032682.5(FOXP1): c.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs112795301 GRCh37 Chromosome 3, 71021785: 71021785
3 FOXP1 NM_032682.5(FOXP1): c.1670_1685dup16 (p.Ser562Argfs) duplication Pathogenic rs398124429 GRCh37 Chromosome 3, 71019924: 71019939
4 FOXP1 NM_032682.5(FOXP1): c.1267_1268delGT (p.Val423Hisfs) deletion Likely pathogenic rs786200948 GRCh37 Chromosome 3, 71027059: 71027060
5 FOXP1 NC_000003.12: g.70992485_71180270del187786 deletion Pathogenic GRCh38 Chromosome 3, 70992485: 71180270
6 FOXP1 NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg) single nucleotide variant Pathogenic rs587777855 GRCh38 Chromosome 3, 70972607: 70972607
7 FOXP1 NM_032682.5(FOXP1): c.1317C> A (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh37 Chromosome 3, 71027010: 71027010
8 FOXP1 NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs) duplication Pathogenic rs797044652 GRCh37 Chromosome 3, 71027087: 71027087
9 FOXP1 NM_032682.5(FOXP1): c.1624C> T (p.Gln542Ter) single nucleotide variant Pathogenic rs794727215 GRCh37 Chromosome 3, 71021734: 71021734
10 FOXP1 NM_032682.5(FOXP1): c.1541G> A (p.Arg514His) single nucleotide variant Pathogenic/Likely pathogenic rs797045586 GRCh38 Chromosome 3, 70972666: 70972666
11 FOXP1 NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs797045584 GRCh37 Chromosome 3, 71026115: 71026115
12 FOXP1 NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys) single nucleotide variant Pathogenic rs869025203 GRCh37 Chromosome 3, 71021818: 71021818
13 FOXP1 NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly) single nucleotide variant Pathogenic rs869025202 GRCh37 Chromosome 3, 71026829: 71026829
14 FOXP1 NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh37 Chromosome 3, 71027010: 71027010
15 FOXP1 NM_032682.5(FOXP1): c.1349-5_1350del deletion Pathogenic rs1135401796 GRCh37 Chromosome 3, 71026872: 71026878
16 FOXP1 NM_001244808.1(FOXP1): c.869+1G> A single nucleotide variant Pathogenic rs763837297 GRCh37 Chromosome 3, 71090478: 71090478
17 FOXP1 NM_032682.5(FOXP1): c.606delA (p.Gly203Alafs) deletion Pathogenic GRCh38 Chromosome 3, 71047000: 71047000
18 FOXP1 NM_032682.5(FOXP1): c.975-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 71001061: 71001061

Expression for Mental Retardation with Language Impairment and with or Without...

Search GEO for disease gene expression data for Mental Retardation with Language Impairment and with or Without Autistic Features.

Pathways for Mental Retardation with Language Impairment and with or Without...

GO Terms for Mental Retardation with Language Impairment and with or Without...

Sources for Mental Retardation with Language Impairment and with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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