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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: Deafness (D003638)
Parent Node: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6994

Name:

Mental retardation-hypotonic facies syndrome, x-linked, 1

Definition:

Alternative IDs:

OMIM:309580

ParentIDs:

MESH:D003638|MESH:D006130|MESH:D007006|MESH:D038901

TreeNumbers:

C09.218.458.341.186/C537457 |C10.597.606.643.455/C537457 |C10.597.751.418.341.186/C537457 |C16.320.322.500/C537457 |C16.320.400.525/C537457 |C19.391.482/C537457 |C23.550.393/C537457 |C23.888.592.763.393.341.186/C537457

Synonyms:

Slim Mappings:

Reference:

MedGen: C537457
MeSH: C537457
OMIM: 309580;

Genes: ATRX;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0000463	Anteverted nares
4	HP:0001156	Brachydactyly
5	HP:0000280	Coarse facial features
6	HP:0002019	Constipation
7	HP:0000028	Cryptorchidism
8	HP:0008734	Decreased testicular size
9	HP:0002750	Delayed skeletal maturation
10	HP:0005280	Depressed nasal bridge
11	HP:0000268	Dolichocephaly
12	HP:0002307	Drooling
13	HP:0000286	Epicanthus
14	HP:0000577	Exotropia
15	HP:0002020	Gastroesophageal reflux
16	HP:0002857	Genu valgum
17	HP:0000218	High palate
18	HP:0000752	Hyperactivity
19	HP:0001347	Hyperreflexia
20	HP:0000316	Hypertelorism
21	HP:0000135	Hypogonadism
22	HP:0005326	Hypoplastic philtrum
23	HP:0000047	Hypospadias
24	HP:0008947	Infantile muscular hypotonia
25	HP:0006887	Intellectual disability, progressive
26	HP:0010864	Intellectual disability, severe
27	HP:0002751	Kyphoscoliosis
28	HP:0000369	Low-set ears
29	HP:0006895	Lower limb hypertonia
30	HP:0000158	Macroglossia
31	HP:0000272	Malar flattening
32	HP:0000252	Microcephaly
33	HP:0000347	Micrognathia
34	HP:0000054	Micropenis
35	HP:0008551	Microtia
36	HP:0011800	Midface retrusion
37	HP:0000341	Narrow forehead
38	HP:0001513	Obesity	HP:0040283
39	HP:0000194	Open mouth
40	HP:0000648	Optic atrophy
41	HP:0000749	Paroxysmal bursts of laughter
42	HP:0001763	Pes planus
43	HP:0003812	Phenotypic variability
44	HP:0000358	Posteriorly rotated ears
45	HP:0010808	Protruding tongue
46	HP:0000508	Ptosis
47	HP:0009466	Radial deviation of finger
48	HP:0000089	Renal hypoplasia
49	HP:0000046	Scrotal hypoplasia
50	HP:0001250	Seizure	HP:0040284
51	HP:0000407	Sensorineural hearing impairment
52	HP:0000470	Short neck
53	HP:0004322	Short stature
54	HP:0000188	Short upper lip
55	HP:0001238	Slender finger
56	HP:0001884	Talipes calcaneovalgus
57	HP:0001762	Talipes equinovarus
58	HP:0001182	Tapered finger
59	HP:0010804	Tented upper lip vermilion
60	HP:0000179	Thick lower lip vermilion
61	HP:0000219	Thin upper lip vermilion
62	HP:0000451	Triangular nasal tip
63	HP:0010806	U-Shaped upper lip vermilion
64	HP:0000582	Upslanted palpebral fissure
65	HP:0000076	Vesicoureteral reflux
66	HP:0002013	Vomiting
67	HP:0000154	Wide mouth
68	HP:0000431	Wide nasal bridge
69	HP:0001566	Widely-spaced maxillary central incisors

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_000489.4(ATRX):c.6392G>A (p.Arg2131Gln)	546	ATRX	Pathogenic	122445101	RCV000012497; RCV000199096;	N	MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847; MedGen:C4016452	X	76814252	76814252	NM_000489.4:c.6392G>A	NP_000480.3:p.Arg2131Gln	NC_000023.10:g.76814252C>T	OMIM Allelic Variant:300032.0011	C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1; C4016452 Mental retardation-hypotonic facies syndrome, X-linked
NM_000489.4(ATRX):c.1423C>T (p.His475Tyr)	546	ATRX	Uncertain significance	146863015	RCV000209924;	N	MedGen:C0796003,OMIM:309580,ORPHA:93972	X	76939325	76939325	NM_000489.4:c.1423C>T	NP_000480.3:p.His475Tyr		-	C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala)	546	ATRX	Likely pathogenic;Pathogenic	122445103	RCV000012500; RCV000197579;	N	MedGen:C0796003,OMIM:309580,ORPHA:93972; MedGen:C1845055,OMIM:301040,ORPHA:847	X	76944337	76944337	NM_000489.4:c.568C>G	NP_000480.3:p.Pro190Ala	NC_000023.10:g.76944337G>C	OMIM Allelic Variant:300032.0014	C1845055 301040 ATR-X syndrome; C0796003 309580 Mental retardation-hypotonic facies syndrome X-linked, 1