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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Autistic Disorder (D001321)
Parent Node: Intellectual Disability (D008607)
Parent Node: Language Development Disorders (D007805)
..Starting node ..MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
Child Nodes:
Sister Nodes:
..Guanidinoacetate methyltransferase deficiency (C537622)
..Mehes syndrome (C536146)
..MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
..SPECIFIC LANGUAGE IMPAIRMENT 1 (OMIM:606711)
..SPECIFIC LANGUAGE IMPAIRMENT 2 (OMIM:606712)
..SPECIFIC LANGUAGE IMPAIRMENT 3 (OMIM:607134)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..SPEECH-LANGUAGE DISORDER 1 (OMIM:602081)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7007

Name:

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Definition:

Alternative IDs:

ParentIDs:

MESH:D001321|MESH:D007805|MESH:D008607

TreeNumbers:

C10.597.606.150.500.550/613670 |C10.597.606.643/613670 |C23.888.592.604.150.500.550/613670 |C23.888.592.604.646/613670 |F03.550.325.125/613670 |F03.550.600/613670

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: 613670
MeSH: 613670
OMIM: 613670;

Genes: FOXP1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000718	Aggressive behavior
3	HP:0000455	Broad nasal tip
4	HP:0002194	Delayed gross motor development
5	HP:0012448	Delayed myelination	HP:0040283
6	HP:0000750	Delayed speech and language development
7	HP:0000494	Downslanted palpebral fissures
8	HP:0001290	Generalized hypotonia
9	HP:0000752	Hyperactivity
10	HP:0000316	Hypertelorism
11	HP:0001249	Intellectual disability
12	HP:0000256	Macrocephaly
13	HP:0000639	Nystagmus
14	HP:0001513	Obesity	HP:0040283
15	HP:0000194	Open mouth
16	HP:0011220	Prominent forehead
17	HP:0000278	Retrognathia
18	HP:0003196	Short nose
19	HP:0000733	Stereotypy
20	HP:0000486	Strabismus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_032682.5(FOXP1):c.1685_1686insAAAACATGCAGAGCAG (p.Ser562Argfs)	27086	FOXP1	Pathogenic	398124429	RCV000175485;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71019923	71019924	NM_032682.5:c.1685_1686insAAAACATGCAGAGCAG	NP_116071.2:p.Ser562Argfs	NC_000003.11:g.71019923_71019924insCTGCTCTGCATGTTTT,NC_000003.11:g.71019924_7101	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1624C>T (p.Gln542Ter)	27086	FOXP1	Pathogenic	794727215	RCV000175370;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71021734	71021734	NM_032682.5:c.1624C>T	NP_116071.2:p.Gln542Ter	NC_000003.11:g.71021734G>A	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1573C>T (p.Arg525Ter)	27086	FOXP1	Pathogenic	112795301	RCV000005214;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71021785	71021785	NM_032682.5:c.1573C>T	NP_116071.2:p.Arg525Ter	NC_000003.11:g.71021785G>A	OMIM Allelic Variant:605515.0002	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His)	27086	FOXP1	Likely pathogenic	797045586	RCV000194178;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71021817	71021817	NM_032682.5:c.1541G>A	NP_116071.2:p.Arg514His	NC_000003.11:g.71021817C>T	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1540C>T (p.Arg514Cys)	27086	FOXP1	Pathogenic	869025203	RCV000207490;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71021818	71021818	NM_032682.5:c.1540C>T	NP_116071.2:p.Arg514Cys	NC_000003.11:g.71021818G>A	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1507C>T (p.Arg503Ter)	27086	FOXP1	Pathogenic	797045584	RCV000195136;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71026115	71026115	NM_032682.5:c.1507C>T	NP_116071.2:p.Arg503Ter	NC_000003.11:g.71026115G>A	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1393A>G (p.Arg465Gly)	27086	FOXP1	Pathogenic	869025202	RCV000207489;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71026829	71026829	NM_032682.5:c.1393A>G	NP_116071.2:p.Arg465Gly	NC_000003.11:g.71026829T>C	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1317C>A (p.Tyr439Ter)	27086	FOXP1	Pathogenic	794727155	RCV000174956;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71027010	71027010	NM_032682.5:c.1317C>A	NP_116071.2:p.Tyr439Ter	NC_000003.11:g.71027010G>T	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1317C>G (p.Tyr439Ter)	27086	FOXP1	Pathogenic	794727155	RCV000207487;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71027010	71027010	NM_032682.5:c.1317C>G	NP_116071.2:p.Tyr439Ter		-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1267_1268delGT (p.Val423Hisfs)	27086	FOXP1	Likely pathogenic	786200948	RCV000169648;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71027059	71027060	NM_032682.5:c.1267_1268delGT	NP_116071.2:p.Val423Hisfs	NC_000003.11:g.71027059_71027060delAC	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features
NM_032682.5(FOXP1):c.1240dupC (p.Leu414Profs)	27086	FOXP1	Pathogenic	797044652	RCV000174957;	N	MedGen:C3150923,OMIM:613670,ORPHA:391372	3	71027087	71027087	NM_032682.5:c.1240dupC	NP_116071.2:p.Leu414Profs	NC_000003.11:g.71027087dupG	-	C3150923 613670 Mental retardation with language impairment and with or without autistic features