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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: Abnormalities, Multiple (D000015)
Parent Node: Contracture (D003286)
Parent Node: Facies (D019066)
Parent Node: Growth Disorders (D006130)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
..Starting node ..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4827

Name:

Growth Deficiency and Mental Retardation with Facial Dysmorphism

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C05.550.323/C565358 |C05.651.197/C565358 |C05.660.207.620/C565358 |C10.500.507.400.500/C565358 |C10.597.606.643/C565358 |C16.131.077/C565358 |C16.131.621.207.620/C565358 |C16.131.666.507.400.500/C565358 |C23.550.291.812/C565358 |C23.550.393/C565358 |C23.888.592.60

Synonyms:

Slim Mappings:

Reference:

MedGen: C565358
MeSH: C565358
OMIM: 605130;

Genes: KMT2A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000718	Aggressive behavior
3	HP:0000581	Blepharophimosis
4	HP:0002136	Broad-based gait
5	HP:0004209	Clinodactyly of the 5th finger
6	HP:0002019	Constipation	HP:0040283
7	HP:0002750	Delayed skeletal maturation	HP:0040283
8	HP:0000750	Delayed speech and language development
9	HP:0000494	Downslanted palpebral fissures
10	HP:0000286	Epicanthus
11	HP:0001508	Failure to thrive
12	HP:0012368	Flat face
13	HP:0001290	Generalized hypotonia	HP:0040283
14	HP:0001290	Generalized hypotonia
15	HP:0000218	High palate
16	HP:0000316	Hypertelorism
17	HP:0001249	Intellectual disability
18	HP:0000527	Long eyelashes	HP:0040283
19	HP:0000343	Long philtrum
20	HP:0000369	Low-set ears
21	HP:0000960	Sacral dimple	HP:0040283
22	HP:0001250	Seizure	HP:0040283
23	HP:0005819	Short middle phalanx of finger
24	HP:0004322	Short stature
25	HP:0001831	Short toe
26	HP:0000486	Strabismus
27	HP:0000664	Synophrys
28	HP:0001182	Tapered finger	HP:0040283
29	HP:0000574	Thick eyebrow
30	HP:0000219	Thin upper lip vermilion
31	HP:0000445	Wide nose

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_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter)	-1	-	Pathogenic	782477344	RCV000194582;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118382678	118382678	NM_001197104.1:c.11084C>G	NP_001184033.1:p.Ser3695Ter	NC_000011.9:g.118382678C>G	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter)	4297	KMT2A	Pathogenic	587783678	RCV000146140;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118339515	118339515	NM_001197104.1:c.458C>G	NP_001184033.1:p.Ser153Ter	NC_000011.9:g.118339515C>G	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.2673_2674delGA (p.Arg893Glufs)	4297	KMT2A	Pathogenic	587783676	RCV000146137;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118344547	118344548	NM_001197104.1:c.2673_2674delGA	NP_001184033.1:p.Arg893Glufs	NC_000011.9:g.118344547_118344548delGA	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.3651dupG (p.Lys1218Glufs)	4297	KMT2A	Pathogenic	863224887	RCV000199889;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118352446	118352446	NM_001197104.1:c.3651dupG	NP_001184033.1:p.Lys1218Glufs	NC_000011.9:g.118352446dupG	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.4086+1G>A	4297	KMT2A	Likely pathogenic	863224889	RCV000198164;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118353211	118353211	NM_001197104.1:c.4086+1G>A		NC_000011.9:g.118353211G>A	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.4342T>C (p.Cys1448Arg)	4297	KMT2A	Likely pathogenic	863224895	RCV000199053;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118359338	118359338	NM_001197104.1:c.4342T>C	NP_001184033.1:p.Cys1448Arg	NC_000011.9:g.118359338T>C	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.4426T>A (p.Cys1476Ser)	4297	KMT2A	Uncertain significance	587783677	RCV000146139;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118359422	118359422	NM_001197104.1:c.4426T>A	NP_001184033.1:p.Cys1476Ser	NC_000011.9:g.118359422T>A	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.4599dupT (p.Lys1534Terfs)	4297	KMT2A	Pathogenic	398122881	RCV000030725;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118360867	118360867	NM_001197104.1:c.4599dupT	NP_001184033.1:p.Lys1534Terfs	NC_000011.9:g.118360867dupT	OMIM Allelic Variant:159555.0005	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.5494C>A (p.Pro1832Thr)	4297	KMT2A	Likely pathogenic	797045051	RCV000191101;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118366545	118366545	NM_001197104.1:c.5494C>A	NP_001184033.1:p.Pro1832Thr	NC_000011.9:g.118366545C>A	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.6811delA (p.Arg2271Glyfs)	4297	KMT2A	Pathogenic	797045656	RCV000194967;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118373418	118373418	NM_001197104.1:c.6811delA	NP_001184033.1:p.Arg2271Glyfs	NC_000011.9:g.118373418delA	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.6913delT (p.Ser2305Leufs)	4297	KMT2A	Pathogenic	398122880	RCV000030723;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118373520	118373520	NM_001197104.1:c.6913delT	NP_001184033.1:p.Ser2305Leufs	NC_000011.9:g.118373520delT	OMIM Allelic Variant:159555.0003	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.7144C>T (p.Arg2382Ter)	4297	KMT2A	Pathogenic	387907275	RCV000030724;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118373751	118373751	NM_001197104.1:c.7144C>T	NP_001184033.1:p.Arg2382Ter	NC_000011.9:g.118373751C>T	OMIM Allelic Variant:159555.0004	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter)	4297	KMT2A	Pathogenic	587783679	RCV000146144;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118374438	118374438	NM_001197104.1:c.7831G>T	NP_001184033.1:p.Glu2611Ter	NC_000011.9:g.118374438G>T	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter)	4297	KMT2A	Pathogenic	587783680	RCV000146145;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118374702	118374702	NM_001197104.1:c.8095C>T	NP_001184033.1:p.Arg2699Ter	NC_000011.9:g.118374702C>T	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.8267delT (p.Leu2756Terfs)	4297	KMT2A	Pathogenic	398122879	RCV000030722;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118374874	118374874	NM_001197104.1:c.8267delT	NP_001184033.1:p.Leu2756Terfs	NC_000011.9:g.118374874delT	OMIM Allelic Variant:159555.0002	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.8806_8809delGTCT (p.Val2936Terfs)	4297	KMT2A	Pathogenic	398122878	RCV000030721;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118375413	118375416	NM_001197104.1:c.8806_8809delGTCT	NP_001184033.1:p.Val2936Terfs	NC_000011.9:g.118375413_118375416delGTCT	OMIM Allelic Variant:159555.0001	C1854630 605130 Wiedemann-Steiner syndrome
NM_001197104.1(KMT2A):c.10334dupC (p.Ser3446Phefs)	4297	KMT2A	Pathogenic	863224888	RCV000196622;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	11	118376941	118376941	NM_001197104.1:c.10334dupC	NP_001184033.1:p.Ser3446Phefs	NC_000011.9:g.118376941dupC	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_006306.3(SMC1A):c.2974-2A>G	8243	SMC1A	Pathogenic	727503774	RCV000157050;	N	MedGen:C1802395,OMIM:300590,SNOMED CT:55016009; MedGen:C1854630,OMIM:605130,ORPHA:319182	X	53410176	53410176	NM_006306.3:c.2974-2A>G		NC_000023.10:g.53410176T>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome; C1854630 605130 Wiedemann-Steiner syndrome
NM_006306.3(SMC1A):c.121C>T (p.Leu41Phe)	8243	SMC1A	Pathogenic	727503776	RCV000157052;	N	MedGen:C1854630,OMIM:605130,ORPHA:319182	X	53442107	53442107	NM_006306.3:c.121C>T	NP_006297.2:p.Leu41Phe	NC_000023.10:g.53442107G>A	-	C1854630 605130 Wiedemann-Steiner syndrome
NM_005445.3(SMC3):c.2536-6_2540del	9126	SMC3	Pathogenic	727503775	RCV000157051;	N	MedGen:C1853099,OMIM:610759; MedGen:C1854630,OMIM:605130,ORPHA:319182	10	112360774	112360784	NM_005445.3:c.2536-6_2540del		NC_000010.10:g.112360774_112360784delTTACAGGAACT	-	C1853099 610759 Cornelia de Lange syndrome 3; C1854630 605130 Wiedemann-Steiner syndrome