Mental Retardation with Language Impairment and with or Without Autistic Features disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRLIAF MCID: MNT237 MIFTS: 27	Mental Retardation with Language Impairment and with or Without Autistic Features (MRLIAF) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁸ ³⁰ ⁶

Mental Retardation with Language Impairment and Autistic Features ⁷⁶ ¹³

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome ⁶⁰

Mental Retardation, Language Impairment, Autistic Features ⁴¹

Foxp1 Syndrome ⁶⁰

Mrliaf ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 613670

MeSH ⁴⁵ D001321 D007806 D008607

ICD10 via Orphanet ³⁵ Q87.0

Orphanet ⁶⁰ ORPHA391372

MedGen ⁴³ C3150923 C4013764

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

OMIM : ⁵⁸ 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 and sleep apnea. 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 obesity and delayed myelination

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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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	13.0
2	sleep apnea	9.8

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

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

³³ (show all 21)

#	Description	HPO Frequency	HPO Source Accession
1	obesity ³³	occasional (7.5%)	HP:0001513
2	delayed myelination ³³	occasional (7.5%)	HP:0012448
3	macrocephaly ³³		HP:0000256
4	hypertelorism ³³		HP:0000316
5	nystagmus ³³		HP:0000639
6	intellectual disability ³³		HP:0001249
7	delayed speech and language development ³³		HP:0000750
8	short nose ³³		HP:0003196
9	stereotypy ³³		HP:0000733
10	prominent forehead ³³		HP:0011220
11	retrognathia ³³		HP:0000278
12	strabismus ³³		HP:0000486
13	apraxia ³³		HP:0002186
14	aggressive behavior ³³		HP:0000718
15	downslanted palpebral fissures ³³		HP:0000494
16	open mouth ³³		HP:0000194
17	broad nasal tip ³³		HP:0000455
18	generalized hypotonia ³³		HP:0001290
19	hyperactivity ³³		HP:0000752
20	delayed gross motor development ³³		HP:0002194
21	delayed ability to walk ³³		HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
downslanting palpebral fissures

Head And Neck Head:
prominent forehead
large head

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggression
compulsions
autistic features (in some patients)
stereotypic behaviors
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

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.	Recruiting	NCT03718923

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

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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 ³⁰	FOXP1

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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:

⁴²

Tongue

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

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

#	Title	Authors	Year
1	FOXP1 Syndrome and Severe Obstructive Sleep Apnea. ( 30092897 )	Kritikou I...Afolabi-Brown O	2018
2	Prospective investigation of FOXP1 syndrome. ( 29090079 )	Siper PM...Buxbaum JD	2017
3	Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. ( 26647308 )	Sollis E...Fisher SE	2016
4	Clinical whole exome sequencing in child neurology practice. ( 25131622 )	Srivastava S...Fatemi A	2014
5	FOXP1 mutations cause intellectual disability and a recognizable phenotype. ( 24214399 )	Le Fevre AK...Hunter MF	2013
6	De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. ( 20950788 )	Hamdan FF...Michaud JL	2010

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

Genes related to Mental Retardation with Language Impairment and with or Without Autistic Features (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FOXP1	Forkhead Box P1	Protein Coding	1669.73	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	20950788 26647308 25131622

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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:

⁷⁶

#	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 49)

#	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	NC_000003.12: g.70992485_71180270del187786	deletion	Pathogenic		GRCh37	Chromosome 3, 71041636: 71229421
10	FOXP1	NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg)	single nucleotide variant	Pathogenic	rs587777855	GRCh38	Chromosome 3, 70972607: 70972607
11	FOXP1	NM_032682.5(FOXP1): c.1600T> C (p.Trp534Arg)	single nucleotide variant	Pathogenic	rs587777855	GRCh37	Chromosome 3, 71021758: 71021758
12	FOXP1	NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs)	duplication	Pathogenic	rs797044652	GRCh37	Chromosome 3, 71027087: 71027087
13	FOXP1	NM_032682.5(FOXP1): c.1240dupC (p.Leu414Profs)	duplication	Pathogenic	rs797044652	GRCh38	Chromosome 3, 70977936: 70977936
14	FOXP1	NM_032682.5(FOXP1): c.1541G> A (p.Arg514His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs797045586	GRCh37	Chromosome 3, 71021817: 71021817
15	FOXP1	NM_032682.5(FOXP1): c.1541G> A (p.Arg514His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs797045586	GRCh38	Chromosome 3, 70972666: 70972666
16	FOXP1	NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter)	single nucleotide variant	Pathogenic	rs797045584	GRCh38	Chromosome 3, 70976964: 70976964
17	FOXP1	NM_032682.5(FOXP1): c.1507C> T (p.Arg503Ter)	single nucleotide variant	Pathogenic	rs797045584	GRCh37	Chromosome 3, 71026115: 71026115
18	FOXP1	NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys)	single nucleotide variant	Pathogenic	rs869025203	GRCh37	Chromosome 3, 71021818: 71021818
19	FOXP1	NM_032682.5(FOXP1): c.1540C> T (p.Arg514Cys)	single nucleotide variant	Pathogenic	rs869025203	GRCh38	Chromosome 3, 70972667: 70972667
20	FOXP1	NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly)	single nucleotide variant	Pathogenic	rs869025202	GRCh37	Chromosome 3, 71026829: 71026829
21	FOXP1	NM_032682.5(FOXP1): c.1393A> G (p.Arg465Gly)	single nucleotide variant	Pathogenic	rs869025202	GRCh38	Chromosome 3, 70977678: 70977678
22	FOXP1	NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter)	single nucleotide variant	Pathogenic	rs794727155	GRCh37	Chromosome 3, 71027010: 71027010
23	FOXP1	NM_032682.5(FOXP1): c.1317C> G (p.Tyr439Ter)	single nucleotide variant	Pathogenic	rs794727155	GRCh38	Chromosome 3, 70977859: 70977859
24	FOXP1	NM_032682.5(FOXP1): c.1349-5_1350del	deletion	Pathogenic	rs1135401796	GRCh37	Chromosome 3, 71026872: 71026878
25	FOXP1	NM_032682.5(FOXP1): c.1349-5_1350del	deletion	Pathogenic	rs1135401796	GRCh38	Chromosome 3, 70977721: 70977727
26	FOXP1	NM_001244808.1(FOXP1): c.869+1G> A	single nucleotide variant	Pathogenic	rs763837297	GRCh37	Chromosome 3, 71090478: 71090478
27	FOXP1	NM_001244808.1(FOXP1): c.869+1G> A	single nucleotide variant	Pathogenic	rs763837297	GRCh38	Chromosome 3, 71041327: 71041327
28	FOXP1	NM_032682.5(FOXP1): c.606del (p.Gly203Alafs)	deletion	Pathogenic	rs1553709907	GRCh38	Chromosome 3, 71047000: 71047000
29	FOXP1	NM_032682.5(FOXP1): c.606del (p.Gly203Alafs)	deletion	Pathogenic	rs1553709907	GRCh37	Chromosome 3, 71096151: 71096151
30	FOXP1	NM_032682.5(FOXP1): c.975-2A> C	single nucleotide variant	Pathogenic	rs1553685707	GRCh37	Chromosome 3, 71050212: 71050212
31	FOXP1	NM_032682.5(FOXP1): c.975-2A> C	single nucleotide variant	Pathogenic	rs1553685707	GRCh38	Chromosome 3, 71001061: 71001061
32	FOXP1	NM_032682.5(FOXP1): c.1574G> A (p.Arg525Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1553663084	GRCh37	Chromosome 3, 71021784: 71021784
33	FOXP1	NM_032682.5(FOXP1): c.1574G> A (p.Arg525Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1553663084	GRCh38	Chromosome 3, 70972633: 70972633
34	FOXP1	NM_001244815.1(FOXP1): c.131C> T (p.Thr44Met)	single nucleotide variant	Uncertain significance	rs1257120372	GRCh37	Chromosome 3, 71179704: 71179704
35	FOXP1	NM_001244815.1(FOXP1): c.131C> T (p.Thr44Met)	single nucleotide variant	Uncertain significance	rs1257120372	GRCh38	Chromosome 3, 71130553: 71130553
36	FOXP1	NM_032682.5(FOXP1): c.1394G> C (p.Arg465Thr)	single nucleotide variant	Pathogenic	rs1553668196	GRCh37	Chromosome 3, 71026828: 71026828
37	FOXP1	NM_032682.5(FOXP1): c.1394G> C (p.Arg465Thr)	single nucleotide variant	Pathogenic	rs1553668196	GRCh38	Chromosome 3, 70977677: 70977677
38	FOXP1	NM_032682.5(FOXP1): c.1568T> C (p.Phe523Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 71021790: 71021790
39	FOXP1	NM_032682.5(FOXP1): c.1568T> C (p.Phe523Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 70972639: 70972639
40	FOXP1	NM_032682.5(FOXP1): c.1653-2A> T	single nucleotide variant	Pathogenic		GRCh37	Chromosome 3, 71019958: 71019958
41	FOXP1	NM_032682.5(FOXP1): c.1653-2A> T	single nucleotide variant	Pathogenic		GRCh38	Chromosome 3, 70970807: 70970807
42	FOXP1	NM_032682.5(FOXP1): c.1291_1292del (p.Thr431Glyfs)	deletion	Pathogenic		GRCh37	Chromosome 3, 71027034: 71027036
43	FOXP1	NM_032682.5(FOXP1): c.1291_1292del (p.Thr431Glyfs)	deletion	Pathogenic		GRCh38	Chromosome 3, 70977884: 70977885
44	FOXP1	NM_032682.5(FOXP1): c.1429-13_1429-3del	deletion	Likely pathogenic		GRCh38	Chromosome 3, 70977045: 70977055
45	FOXP1	NM_032682.5(FOXP1): c.1429-13_1429-3del	deletion	Likely pathogenic		GRCh37	Chromosome 3, 71026196: 71026206
46	FOXP1	NM_032682.5(FOXP1): c.1147-2A> G	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 3, 70978031: 70978031
47	FOXP1	NM_032682.5(FOXP1): c.1147-2A> G	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 3, 71027182: 71027182
48	FOXP1	NM_001244808.1(FOXP1): c.1627C> T (p.Arg543Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 3, 70972577: 70972577
49	FOXP1	NM_001244808.1(FOXP1): c.1627C> T (p.Arg543Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 3, 71021728: 71021728

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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.

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

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

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

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Mental Retardation with Language Impairment and with or Without Autistic Features (MRLIAF)

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:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Interventional clinical trials:

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:

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:

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

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

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

Genes related to Mental Retardation with Language Impairment and with or Without Autistic Features (1 elite genes):

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:

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

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

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...