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

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:

Orphanet: 60  
Rare neurological diseases


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.

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

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

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

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

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

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 )
2018
2
Prospective investigation of FOXP1 syndrome. ( 29090079 )
2017
3
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. ( 26647308 )
2016
4
Clinical whole exome sequencing in child neurology practice. ( 25131622 )
2014
5
FOXP1 mutations cause intellectual disability and a recognizable phenotype. ( 24214399 )
2013
6
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. ( 20950788 )
2010

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

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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