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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

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

Disease Browser
Parent Node: Microcephaly (D008831)
..Starting node ..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
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:

7193

Name:

Microcephaly, Primary Autosomal Recessive, 7

Definition:

Alternative IDs:

OMIM:612703

ParentIDs:

MESH:D008831

TreeNumbers:

C05.660.207.620/C567198 |C10.500.507.400.500/C567198 |C16.131.621.207.620/C567198 |C16.131.666.507.400.500/C567198

Synonyms:

MCPH7 |MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567198
MeSH: C567198
OMIM: 612703;

Genes: STIL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001249	Intellectual disability
4	HP:0000252	Microcephaly
5	HP:0009879	Simplified gyral pattern	HP:0040283
6	HP:0000340	Sloping forehead

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_003035.2(STIL):c.3715C>T (p.Gln1239Ter)	6491	STIL	Pathogenic	121918609	RCV000013813;	N	MedGen:C2675187,OMIM:612703	1	47716957	47716957	NM_003035.2:c.3715C>T	NP_003026.2:p.Gln1239Ter	NC_000001.10:g.47716957G>A	OMIM Allelic Variant:181590.0001	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.3655delG (p.Val1219Terfs)	6491	STIL	Pathogenic	199422207	RCV000013814;	N	MedGen:C2675187,OMIM:612703	1	47717017	47717017	NM_003035.2:c.3655delG	NP_003026.2:p.Val1219Terfs	NC_000001.10:g.47717017delC	OMIM Allelic Variant:181590.0002	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.3434C>T (p.Ala1145Val)	6491	STIL	Benign;Likely benign	3766317	RCV000020529; RCV000175173;	N	MedGen:C2675187,OMIM:612703; MedGen:CN169374	1	47717238	47717238	NM_003035.2:c.3434C>T	NP_003026.2:p.Ala1145Val	NC_000001.10:g.47717238G>A	-	CN169374 not specified; C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.3426C>T (p.Pro1142=)	6491	STIL	Uncertain significance	144628824	RCV000147695;	N	MedGen:C2675187,OMIM:612703	1	47717246	47717246	NM_003035.2:c.3426C>T	NP_003026.2:p.Pro1142=	NC_000001.10:g.47717246G>A	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.3154G>A (p.Gly1052Ser)	6491	STIL	Uncertain significance	201354921	RCV000147693;	N	MedGen:C2675187,OMIM:612703	1	47717518	47717518	NM_003035.2:c.3154G>A	NP_003026.2:p.Gly1052Ser	NC_000001.10:g.47717518C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.3064G>T (p.Val1022Leu)	6491	STIL	Uncertain significance	144586803	RCV000147692;	N	MedGen:C2675187,OMIM:612703	1	47725974	47725974	NM_003035.2:c.3064G>T	NP_003026.2:p.Val1022Leu	NC_000001.10:g.47725974C>A	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2954A>G (p.His985Arg)	6491	STIL	Benign	199422205	RCV000020528;	N	MedGen:C2675187,OMIM:612703	1	47726084	47726084	NM_003035.2:c.2954A>G	NP_003026.2:p.His985Arg	NC_000001.10:g.47726084T>C	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2948C>T (p.Thr983Ile)	6491	STIL	Uncertain significance	587784450	RCV000147691;	N	MedGen:C2675187,OMIM:612703	1	47726090	47726090	NM_003035.2:c.2948C>T	NP_003026.2:p.Thr983Ile	NC_000001.10:g.47726090G>A	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2855C>A (p.Ser952Tyr)	6491	STIL	Benign	199422204	RCV000020527;	N	MedGen:C2675187,OMIM:612703	1	47726183	47726183	NM_003035.2:c.2855C>A	NP_003026.2:p.Ser952Tyr	NC_000001.10:g.47726183G>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2852G>A (p.Ser951Asn)	6491	STIL	Uncertain significance	35447382	RCV000147690;	N	MedGen:C2675187,OMIM:612703	1	47726186	47726186	NM_003035.2:c.2852G>A	NP_003026.2:p.Ser951Asn	NC_000001.10:g.47726186C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2826+1G>A	6491	STIL	Pathogenic	199422206	RCV000013815;	N	MedGen:C2675187,OMIM:612703	1	47728574	47728574	NM_003035.2:c.2826+1G>A		NC_000001.10:g.47728574C>T	OMIM Allelic Variant:181590.0003	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.2542G>A (p.Val848Ile)	6491	STIL	Uncertain significance	587784449	RCV000147686;	N	MedGen:C2675187,OMIM:612703	1	47735380	47735380	NM_003035.2:c.2542G>A	NP_003026.2:p.Val848Ile	NC_000001.10:g.47735380C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp)	6491	STIL	Pathogenic	398122976	RCV000077751;	N	MedGen:C2675187,OMIM:612703	1	47735529	47735529	NM_001048166.1:c.2393T>G	NP_001041631.1:p.Leu798Trp	NC_000001.10:g.47735529A>C	OMIM Allelic Variant:181590.0004	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_001048166.1(STIL):c.2021_2023delGTT (p.Cys674del)	6491	STIL	Uncertain significance	587784448	RCV000147684;	N	MedGen:C2675187,OMIM:612703	1	47746107	47746109	NM_001048166.1:c.2021_2023delGTT	NP_001041631.1:p.Cys674del	NC_000001.10:g.47746107_47746109delAAC	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe)	6491	STIL	Likely benign;Uncertain significance	139912214	RCV000147682; RCV000174311; RCV000210579;	N	MedGen:C0950123; MedGen:C2675187,OMIM:612703; MedGen:CN221809	1	47746675	47746675	NM_003035.2:c.1455G>C	NP_003026.2:p.Leu485Phe	NC_000001.10:g.47746675C>G	-	C0950123 Inborn genetic diseases; CN221809 not provided; C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1263A>C (p.Gln421His)	6491	STIL	Benign	28705368	RCV000020525;	N	MedGen:C2675187,OMIM:612703	1	47746867	47746867	NM_003035.2:c.1263A>C	NP_003026.2:p.Gln421His	NC_000001.10:g.47746867T>G	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1262A>C (p.Gln421Pro)	6491	STIL	Benign	28472545	RCV000020524;	N	MedGen:C2675187,OMIM:612703	1	47746868	47746868	NM_003035.2:c.1262A>C	NP_003026.2:p.Gln421Pro	NC_000001.10:g.47746868T>G	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1137T>C (p.Ser379=)	6491	STIL	Uncertain significance	587784447	RCV000147680;	N	MedGen:C2675187,OMIM:612703	1	47748128	47748128	NM_003035.2:c.1137T>C	NP_003026.2:p.Ser379=	NC_000001.10:g.47748128A>G	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1136C>T (p.Ser379Phe)	6491	STIL	Uncertain significance	149185431	RCV000147679; RCV000174071;	N	MedGen:C2675187,OMIM:612703; MedGen:CN221809	1	47748129	47748129	NM_003035.2:c.1136C>T	NP_003026.2:p.Ser379Phe	NC_000001.10:g.47748129G>A	-	CN221809 not provided; C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1069G>A (p.Ala357Thr)	6491	STIL	Uncertain significance	75426387	RCV000147678;	N	MedGen:C2675187,OMIM:612703	1	47753287	47753287	NM_003035.2:c.1069G>A	NP_003026.2:p.Ala357Thr	NC_000001.10:g.47753287C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.1024-4T>C	6491	STIL	Uncertain significance	188900275	RCV000147677;	N	MedGen:C2675187,OMIM:612703	1	47753336	47753336	NM_003035.2:c.1024-4T>C		NC_000001.10:g.47753336A>G	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.895T>A (p.Phe299Ile)	6491	STIL	Likely pathogenic	587784452	RCV000147700;	N	MedGen:C2675187,OMIM:612703	1	47755235	47755235	NM_003035.2:c.895T>A	NP_003026.2:p.Phe299Ile	NC_000001.10:g.47755235A>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.467A>G (p.His156Arg)	6491	STIL	Uncertain significance	141352790	RCV000147699;	N	MedGen:C2675187,OMIM:612703	1	47765811	47765811	NM_003035.2:c.467A>G	NP_003026.2:p.His156Arg	NC_000001.10:g.47765811T>C	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.266_453del	6491	STIL	Pathogenic	863225464	RCV000202415;	N	MedGen:C2675187,OMIM:612703	1	47767228	47767228	NM_003035.2:c.266_453del		NC_000001.10:g.47767228C>T	OMIM Allelic Variant:181590.0005	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.257C>T (p.Ala86Val)	6491	STIL	Benign;Likely benign	3125630	RCV000020526; RCV000147687;	N	MedGen:C2675187,OMIM:612703; MedGen:CN169374	1	47767914	47767914	NM_003035.2:c.257C>T	NP_003026.2:p.Ala86Val	NC_000001.10:g.47767914G>A	-	CN169374 not specified; C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.227C>T (p.Ser76Leu)	6491	STIL	Uncertain significance	147160336	RCV000147685;	N	MedGen:C2675187,OMIM:612703	1	47767944	47767944	NM_003035.2:c.227C>T	NP_003026.2:p.Ser76Leu	NC_000001.10:g.47767944G>A	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.36G>A (p.Met12Ile)	6491	STIL	Uncertain significance	587784451	RCV000147698;	N	MedGen:C2675187,OMIM:612703	1	47775956	47775956	NM_003035.2:c.36G>A	NP_003026.2:p.Met12Ile	NC_000001.10:g.47775956C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7
NM_003035.2(STIL):c.26G>A (p.Arg9Gln)	6491	STIL	Uncertain significance	369825711	RCV000147689;	N	MedGen:C2675187,OMIM:612703	1	47775966	47775966	NM_003035.2:c.26G>A	NP_003026.2:p.Arg9Gln	NC_000001.10:g.47775966C>T	-	C2675187 612703 Primary autosomal recessive microcephaly 7