MCID: MNT237
MIFTS: 22

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 57 29 6
Mental Retardation with Language Impairment and Autistic Features 75 13
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 59
Mental Retardation, Language Impairment, Autistic Features 40
Mrliaf 75

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-severe speech delay-mild dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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: 59  
Rare neurological diseases


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

OMIM : 57 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 mental retardation with language impairment and autistic features, is related to intellectual disability-severe speech delay-mild dysmorphism syndrome. An important gene associated with Mental Retardation with Language Impairment and with or Without Autistic Features is FOXP1 (Forkhead Box P1). Affiliated tissues include tongue, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.8

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
downslanting palpebral fissures

Head And Neck Head:
prominent forehead
large head

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggression
behavioral problems (in some patients)
compulsions
autistic features (in some patients)
more
Muscle Soft Tissue:
hypotonia

Skin Nails Hair Hair:
frontal hair upsweep

Head And Neck Nose:
short nose
broad nasal tip

Head And Neck Mouth:
open mouth
oromotor difficulties
lip protrusion
tongue apraxia

Neurologic Central Nervous System:
delayed gross motor development
mental retardation, mild to moderate
delayed walking
articulation difficulties
delayed speech development, severe
more
Head And Neck Face:
retrognathia, mild

Growth Weight:
obesity (in some patients)


Clinical features from OMIM:

613670

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 obesity 32 occasional (7.5%) HP:0001513
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 delayed speech and language development 32 HP:0000750
7 short nose 32 HP:0003196
8 stereotypy 32 HP:0000733
9 prominent forehead 32 HP:0011220
10 retrognathia 32 HP:0000278
11 strabismus 32 HP:0000486
12 downslanted palpebral fissures 32 HP:0000494
13 open mouth 32 HP:0000194
14 broad nasal tip 32 HP:0000455
15 aggressive behavior 32 HP:0000718
16 hyperactivity 32 HP:0000752
17 delayed gross motor development 32 HP:0002194
18 generalized hypotonia 32 HP:0001290
19 delayed myelination 32 occasional (7.5%) HP:0012448

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Mental Retardation with Language Impairment and with or Without Autistic Features 29 FOXP1

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:

41
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:

75
# 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 38)
# 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.1573C> T (p.Arg525Ter) single nucleotide variant Pathogenic rs112795301 GRCh38 Chromosome 3, 70972634: 70972634
4 FOXP1 NM_032682.5(FOXP1): c.1670_1685dup16 (p.Ser562Argfs) duplication Pathogenic rs398124429 GRCh37 Chromosome 3, 71019924: 71019939
5 FOXP1 NM_032682.5(FOXP1): c.1670_1685dup16 (p.Ser562Argfs) duplication Pathogenic rs398124429 GRCh38 Chromosome 3, 70970773: 70970788
6 FOXP1 NM_032682.5(FOXP1): c.1267_1268delGT (p.Val423Hisfs) deletion Likely pathogenic rs786200948 GRCh37 Chromosome 3, 71027059: 71027060
7 FOXP1 NM_032682.5(FOXP1): c.1267_1268delGT (p.Val423Hisfs) deletion Likely pathogenic rs786200948 GRCh38 Chromosome 3, 70977908: 70977909
8 FOXP1 NC_000003.12: g.70992485_71180270del187786 deletion Pathogenic GRCh38 Chromosome 3, 70992485: 71180270
9 FOXP1 NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg) single nucleotide variant Pathogenic rs587777855 GRCh38 Chromosome 3, 70972607: 70972607
10 FOXP1 NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg) single nucleotide variant Pathogenic rs587777855 GRCh37 Chromosome 3, 71021758: 71021758
11 FOXP1 NM_032682.5(FOXP1): c.1317C> A (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh37 Chromosome 3, 71027010: 71027010
12 FOXP1 NM_032682.5(FOXP1): c.1317C> A (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh38 Chromosome 3, 70977859: 70977859
13 FOXP1 NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs) duplication Pathogenic rs797044652 GRCh37 Chromosome 3, 71027087: 71027087
14 FOXP1 NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs) duplication Pathogenic rs797044652 GRCh38 Chromosome 3, 70977936: 70977936
15 FOXP1 NM_032682.5(FOXP1): c.1624C> T (p.Gln542Ter) single nucleotide variant Pathogenic rs794727215 GRCh37 Chromosome 3, 71021734: 71021734
16 FOXP1 NM_032682.5(FOXP1): c.1624C> T (p.Gln542Ter) single nucleotide variant Pathogenic rs794727215 GRCh38 Chromosome 3, 70972583: 70972583
17 FOXP1 NM_032682.5(FOXP1): c.1541G> A (p.Arg514His) single nucleotide variant Pathogenic/Likely pathogenic rs797045586 GRCh37 Chromosome 3, 71021817: 71021817
18 FOXP1 NM_032682.5(FOXP1): c.1541G> A (p.Arg514His) single nucleotide variant Pathogenic/Likely pathogenic rs797045586 GRCh38 Chromosome 3, 70972666: 70972666
19 FOXP1 NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs797045584 GRCh38 Chromosome 3, 70976964: 70976964
20 FOXP1 NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic rs797045584 GRCh37 Chromosome 3, 71026115: 71026115
21 FOXP1 NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys) single nucleotide variant Pathogenic rs869025203 GRCh37 Chromosome 3, 71021818: 71021818
22 FOXP1 NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys) single nucleotide variant Pathogenic rs869025203 GRCh38 Chromosome 3, 70972667: 70972667
23 FOXP1 NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly) single nucleotide variant Pathogenic rs869025202 GRCh37 Chromosome 3, 71026829: 71026829
24 FOXP1 NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly) single nucleotide variant Pathogenic rs869025202 GRCh38 Chromosome 3, 70977678: 70977678
25 FOXP1 NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh37 Chromosome 3, 71027010: 71027010
26 FOXP1 NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter) single nucleotide variant Pathogenic rs794727155 GRCh38 Chromosome 3, 70977859: 70977859
27 FOXP1 NM_032682.5(FOXP1): c.1349-5_1350del deletion Pathogenic rs1135401796 GRCh37 Chromosome 3, 71026872: 71026878
28 FOXP1 NM_032682.5(FOXP1): c.1349-5_1350del deletion Pathogenic rs1135401796 GRCh38 Chromosome 3, 70977721: 70977727
29 FOXP1 NM_001244808.1(FOXP1): c.869+1G> A single nucleotide variant Pathogenic rs763837297 GRCh37 Chromosome 3, 71090478: 71090478
30 FOXP1 NM_001244808.1(FOXP1): c.869+1G> A single nucleotide variant Pathogenic rs763837297 GRCh38 Chromosome 3, 71041327: 71041327
31 FOXP1 NM_032682.5(FOXP1): c.606delA (p.Gly203Alafs) deletion Pathogenic GRCh38 Chromosome 3, 71047000: 71047000
32 FOXP1 NM_032682.5(FOXP1): c.606delA (p.Gly203Alafs) deletion Pathogenic GRCh37 Chromosome 3, 71096151: 71096151
33 FOXP1 NM_032682.5(FOXP1): c.975-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 71001061: 71001061
34 FOXP1 NM_032682.5(FOXP1): c.975-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 71050212: 71050212
35 FOXP1 NM_032682.5(FOXP1): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 71096135: 71096135
36 FOXP1 NM_032682.5(FOXP1): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 71046984: 71046984
37 FOXP1 NM_032682.5(FOXP1): c.1329C> A (p.Tyr443Ter) single nucleotide variant Pathogenic rs1064793944 GRCh37 Chromosome 3, 71026998: 71026998
38 FOXP1 NM_032682.5(FOXP1): c.1329C> A (p.Tyr443Ter) single nucleotide variant Pathogenic rs1064793944 GRCh38 Chromosome 3, 70977847: 70977847

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...

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71 TGDB
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74 UMLS via Orphanet
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