MRLIAF
MCID: MNT237
MIFTS: 38

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste 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 56 12 29 6
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 12 52 58 15
Foxp1 Syndrome 12 52 58
Mental Retardation with Language Impairment and Autistic Features 73 13
Intellectual Disability with Language Impairment and with or Without Autistic Features 52
Foxp1 Related Global Developmental Delay, Intellectual Disability and Speech Defects 52
Mental Retardation, Language Impairment, Autistic Features 39
Mrliaf 73

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-severe speech delay-mild dysmorphism syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
mental retardation with language impairment and with or without autistic features:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


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

NIH Rare Diseases : 52 Intellectual disability -severe speech delay-mild dysmorphism syndrome , also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short nose with broad tip, head appearing too large for the body, frontal hair upsweep, bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have been the first to occur in the family (de novo ). This condition is caused by changes (mutations ) in the FOXP1 gene .

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 alacrima, achalasia, and mental retardation 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 eye, brain and heart, and related phenotypes are prominent forehead and expressive language delay

Disease Ontology : 12 A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has material basis in heterozygous mutation in FOXP1 on chromosome 3p13.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 alacrima, achalasia, and mental retardation syndrome 9.9
2 sleep apnea 9.9
3 autism spectrum disorder 9.9

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:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
2 expressive language delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0002474
3 speech articulation difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0009088
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
6 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
7 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
8 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
11 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
12 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
13 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
14 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
15 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
16 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
17 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
18 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
19 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
20 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
21 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
22 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
23 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
24 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
25 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
26 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
27 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
28 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
29 abnormality of refraction 58 31 frequent (33%) Frequent (79-30%) HP:0000539
30 prominent nasolabial fold 58 31 frequent (33%) Frequent (79-30%) HP:0005272
31 oromotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0007301
32 frontal upsweep of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002236
33 repetitive compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008762
34 chin with horizontal crease 58 31 frequent (33%) Frequent (79-30%) HP:0011823
35 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
36 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
37 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
38 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
39 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
40 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
41 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
42 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
43 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
44 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
45 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
46 abnormality of the kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000077
47 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
48 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
49 prominent fingertip pads 58 31 occasional (7.5%) Occasional (29-5%) HP:0001212
50 decreased serum iron 58 31 occasional (7.5%) Occasional (29-5%) HP:0040303

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
downslanting palpebral fissures

Head And Neck Head:
prominent forehead
large head

Neurologic Central Nervous System:
delayed gross motor development
mental retardation, mild to moderate
delayed walking
articulation difficulties
delayed speech development, severe
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 Behavioral Psychiatric Manifestations:
hyperactivity
aggression
compulsions
autistic features (in some patients)
stereotypic behaviors
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...

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:

40
Eye, Brain, Heart, Kidney, Skin, 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 PMID Year
1
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 56 6
26647308 2016
2
Clinical whole exome sequencing in child neurology practice. 56 6
25131622 2014
3
FOXP1 mutations cause intellectual disability and a recognizable phenotype. 6 56
24214399 2013
4
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 6 56
20950788 2010
5
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. 56
20848658 2010
6
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. 56
20571508 2010
7
Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice. 61
31611379 2019
8
FOXP1 Syndrome and Severe Obstructive Sleep Apnea. 61
30092897 2018
9
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 61
29330474 2018
10
Prospective investigation of FOXP1 syndrome. 61
29090079 2017

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

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

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXP1 NM_032682.5(FOXP1):c.1349-5_1350deldeletion Pathogenic 431122 rs1135401796 3:71026872-71026878 3:70977721-70977727
2 FOXP1 NM_001244808.2(FOXP1):c.869+1G>ASNV Pathogenic 433178 rs763837297 3:71090478-71090478 3:71041327-71041327
3 FOXP1 NM_032682.6(FOXP1):c.606del (p.Gly203fs)deletion Pathogenic 435248 rs1553709907 3:71096151-71096151 3:71047000-71047000
4 FOXP1 NM_032682.5(FOXP1):c.975-2A>CSNV Pathogenic 438294 rs1553685707 3:71050212-71050212 3:71001061-71001061
5 FOXP1 NM_032682.6(FOXP1):c.622C>T (p.Gln208Ter)SNV Pathogenic 498786 rs1553709881 3:71096135-71096135 3:71046984-71046984
6 FOXP1 NM_032682.5(FOXP1):c.1653-2A>TSNV Pathogenic 561014 rs1559596756 3:71019958-71019958 3:70970807-70970807
7 FOXP1 NM_032682.6(FOXP1):c.1289_1290AC[1] (p.Thr431fs)short repeat Pathogenic 561013 rs1559620376 3:71027035-71027036 3:70977884-70977885
8 FOXP1 NM_032682.6(FOXP1):c.1394G>C (p.Arg465Thr)SNV Pathogenic 559905 rs1553668196 3:71026828-71026828 3:70977677-70977677
9 FOXP1 NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter)SNV Pathogenic 626283 rs1559602356 3:71021728-71021728 3:70972577-70972577
10 FOXP1 NM_032682.5(FOXP1):c.842_843TC[1] (p.Val283fs)short repeat Pathogenic 689737 3:71090503-71090504 3:71041352-71041353
11 FOXP1 NM_032682.5(FOXP1):c.1653-1G>ASNV Pathogenic 691269 3:71019957-71019957 3:70970806-70970806
12 FOXP1 NM_032682.5(FOXP1):c.1146+1G>ASNV Pathogenic 691271 3:71037144-71037144 3:70987993-70987993
13 FOXP1 NM_032682.6(FOXP1):c.1287_1291dup (p.Thr431fs)duplication Pathogenic 801984 3:71027035-71027036 3:70977884-70977885
14 FOXP1 NM_032682.6(FOXP1):c.870-1G>CSNV Pathogenic 801985 3:71064805-71064805 3:71015654-71015654
15 FOXP1 NM_032682.6(FOXP1):c.1409A>T (p.Tyr470Phe)SNV Pathogenic 873452 3:71026813-71026813 3:70977662-70977662
16 FOXP1 NC_000003.10:g.(71109689_?)_(?_71508061)deldeletion Pathogenic 18427
17 FOXP1 NM_032682.6(FOXP1):c.1573C>T (p.Arg525Ter)SNV Pathogenic 18428 rs112795301 3:71021785-71021785 3:70972634-70972634
18 FOXP1 NM_032682.6(FOXP1):c.1426_1428+1deldeletion Pathogenic 807605 3:71026793-71026796 3:70977642-70977645
19 FOXP1 NC_000003.12:g.70992485_71180270deldeletion Pathogenic 156540 3:71041636-71229421 3:70992485-71180270
20 FOXP1 NM_032682.6(FOXP1):c.1600T>C (p.Trp534Arg)SNV Pathogenic 156541 rs587777855 3:71021758-71021758 3:70972607-70972607
21 FOXP1 NM_032682.6(FOXP1):c.1507C>T (p.Arg503Ter)SNV Pathogenic 211038 rs797045584 3:71026115-71026115 3:70976964-70976964
22 FOXP1 NM_032682.6(FOXP1):c.1540C>T (p.Arg514Cys)SNV Pathogenic 217265 rs869025203 3:71021818-71021818 3:70972667-70972667
23 FOXP1 NM_032682.6(FOXP1):c.1393A>G (p.Arg465Gly)SNV Pathogenic 217264 rs869025202 3:71026829-71026829 3:70977678-70977678
24 FOXP1 NM_032682.6(FOXP1):c.1317C>G (p.Tyr439Ter)SNV Pathogenic 217266 rs794727155 3:71027010-71027010 3:70977859-70977859
25 FOXP1 NM_032682.6(FOXP1):c.1541G>A (p.Arg514His)SNV Pathogenic/Likely pathogenic 211040 rs797045586 3:71021817-71021817 3:70972666-70972666
26 FOXP1 NM_032682.6(FOXP1):c.1240_1241del (p.Leu414fs)deletion Pathogenic/Likely pathogenic 418219 rs1064793130 3:71027086-71027087 3:70977935-70977936
27 FOXP1 NM_032682.6(FOXP1):c.1550T>G (p.Leu517Arg)SNV Likely pathogenic 801983 3:71021808-71021808 3:70972657-70972657
28 FOXP1 NM_032682.6(FOXP1):c.1267_1268del (p.Val423fs)deletion Likely pathogenic 156149 rs786200948 3:71027059-71027060 3:70977908-70977909
29 FOXP1 NM_032682.5(FOXP1):c.1146+1G>CSNV Likely pathogenic 633220 rs1559650552 3:71037144-71037144 3:70987993-70987993
30 FOXP1 NM_032682.5(FOXP1):c.1429-13_1429-3deldeletion Likely pathogenic 619989 rs1559617016 3:71026196-71026206 3:70977045-70977055
31 FOXP1 NM_032682.5(FOXP1):c.1147-2A>GSNV Likely pathogenic 619979 rs1559621862 3:71027182-71027182 3:70978031-70978031
32 FOXP1 NM_032682.6(FOXP1):c.1574G>A (p.Arg525Gln)SNV Conflicting interpretations of pathogenicity 521111 rs1553663084 3:71021784-71021784 3:70972633-70972633
33 FOXP1 NM_032682.6(FOXP1):c.44C>T (p.Ala15Val)SNV Conflicting interpretations of pathogenicity 211043 rs532329866 3:71247489-71247489 3:71198338-71198338
34 FOXP1 NM_032682.6(FOXP1):c.407T>A (p.Leu136His)SNV Uncertain significance 812164 3:71102800-71102800 3:71053649-71053649
35 FOXP1 NM_032682.6(FOXP1):c.490G>A (p.Ala164Thr)SNV Uncertain significance 801986 3:71101708-71101708 3:71052557-71052557
36 FOXP1 NM_032682.5(FOXP1):c.181-17916C>TSNV Uncertain significance 548533 rs1257120372 3:71179704-71179704 3:71130553-71130553
37 FOXP1 NM_032682.6(FOXP1):c.1568T>C (p.Phe523Ser)SNV Uncertain significance 560721 rs1559602593 3:71021790-71021790 3:70972639-70972639
38 FOXP1 NM_032682.6(FOXP1):c.1798A>G (p.Ser600Gly)SNV Uncertain significance 801982 3:71015132-71015132 3:70965981-70965981

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

73
# 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

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...

Cellular components related to Mental Retardation with Language Impairment and with or Without Autistic Features according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.8 IRX6 FOXP4 FOXP1

Biological processes related to Mental Retardation with Language Impairment and with or Without Autistic Features according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 8.8 IRX6 FOXP4 FOXP1

Molecular functions related to Mental Retardation with Language Impairment and with or Without Autistic Features according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.13 IRX6 FOXP4 FOXP1
2 sequence-specific DNA binding GO:0043565 8.8 IRX6 FOXP4 FOXP1

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

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