Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Intellectual Disability (D008607)
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Mandibulofacial Dysostosis (D008342)
Parent Node:
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Microcephaly (D008831)
..Starting node
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Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAchalasia microcephaly (C536010)
..expandAgammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAmish lethal microcephaly (C538247)
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAphalangia syndactyly microcephaly (C537787)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAutosomal Recessive Primary Microcephaly (C579935)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandBaraitser Brett Piesowicz syndrome (C537905)
..expandBattaglia Neri syndrome (C537662)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Type A2, With Microcephaly (C565894)
..expandBranchial arch syndrome X-linked (C537102)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCAMFAK syndrome (C537965)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandChromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..expandChromosome 15q26-Qter Deletion Syndrome (C567232)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCK SYNDROME (OMIM:300831)
..expandCohen syndrome (C536438)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandDubowitz syndrome (C535718)
..expandEllis Yale Winter syndrome (C536205)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandExtrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..expandFilippi syndrome (C538152)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGalloway Mowat syndrome (C537548)
..expandGOMBO syndrome (C537284)
..expandGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandHadziselimovic Syndrome (C567850)
..expandHalal syndrome (C535622)
..expandHersh Podruch Weisskopk syndrome (C538114)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandHypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJorgenson Lenz syndrome (C536292)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandLambotte syndrome (C537549)
..expandLissencephaly 3 (C566908)
..expandLowry Wood syndrome (C537038)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandMacDermot Winter syndrome (C537714)
..expandMarfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..expandMEHMO syndrome (C537451)
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMicrocephaly albinism digital anomalies syndrome (C537322)
..expandMicrocephaly autosomal dominant (C537323)
..expandMicrocephaly cervical spine fusion anomalies (C537325)
..expandMicrocephaly deafness syndrome (C537326)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly nonsyndromal (C537542)
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMicrocephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMicrocephaly with Simplified Gyral Pattern (C566332)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrocephaly, Macrotia, And Mental Retardation (C566525)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMicrocephaly, Primary Autosomal Recessive, 1 (C565384)
..expandMicrocephaly, Primary Autosomal Recessive, 2 (C565794)
..expandMicrocephaly, Primary Autosomal Recessive, 3 (C565746)
..expandMicrocephaly, Primary Autosomal Recessive, 4 (C565792)
..expandMicrocephaly, Primary Autosomal Recessive, 5 (C563871)
..expandMicrocephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..expandMicrocephaly, Primary Autosomal Recessive, 6 (C564247)
..expandMicrocephaly, Primary Autosomal Recessive, 7 (C567198)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicrohydranencephaly (C537555)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMilner Khallouf Gibson syndrome (C537473)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMowat-Wilson syndrome (C536990)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandNeu Laxova syndrome (C536405)
..expandNijmegen Breakage Syndrome-Like Disorder (C567767)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandOculopalatocerebral Syndrome (C564935)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandPaine syndrome (C538101)
..expandPartington Anderson syndrome (C536299)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..expandPorencephaly (D065708) Child1
..expandRaine syndrome (C535282)
..expandRAJAB SYNDROME (OMIM:613658)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSay Barber Miller syndrome (C536618)
..expandSay syndrome (C536621)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSeemanova Lesny syndrome (C537536)
..expandSevere Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..expandSilengo Lerone Pelizza syndrome (C537336)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTeebi Kaurah syndrome (C536948)
..expandTrichodental syndrome (C536551)
..expandTsukahara Syndrome (C566376)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWinship Viljoen Leary syndrome (C536711)
..expandZerres Rietschel Majewski syndrome (C536724)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4826
Name:Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Definition:
Alternative IDs:
ParentIDs:MESH:D008342|MESH:D008607|MESH:D008831
TreeNumbers:C05.116.099.370.231.576/C537405 |C05.660.207.231.576/C537405 |C05.660.207.620/C537405 |C10.500.507.400.500/C537405 |C10.597.606.643/C537405 |C16.131.621.207.231.576/C537405 |C16.131.621.207.620/C537405 |C16.131.666.507.400.500/C537405 |C23.888.592.604.646/C53740
Synonyms:
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537405
MeSH: C537405
OMIM: 610536;

Genes: EFTUD2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000463Anteverted nares
4 HP:0000413Atresia of the external auditory canal
5 HP:0001631Atrial septal defect
6 HP:0000453Choanal atresia
7 HP:0000175Cleft palate
8 HP:0000405Conductive hearing impairment
9 HP:0002002Deep philtrum
10 HP:0000750Delayed speech and language development
11 HP:0000494Downslanted palpebral fissures
12 HP:0000286Epicanthus
13 HP:0002032Esophageal atresiaHP:0040283
14 HP:0008872Feeding difficulties in infancy
15 HP:0001263Global developmental delay
16 HP:0000369Low-set ears
17 HP:0000272Malar flattening
18 HP:0005321Mandibulofacial dysostosis
19 HP:0000252Microcephaly
20 HP:0000347Micrognathia
21 HP:0008551Microtia
22 HP:0011800Midface retrusion
23 HP:0000396Overfolded helix
24 HP:0000384Preauricular skin tag
25 HP:0001177Preaxial hand polydactyly
26 HP:0000253Progressive microcephaly
27 HP:0009623Proximal placement of thumbHP:0040283
28 HP:0002098Respiratory distress
29 HP:0001250SeizureHP:0040283
30 HP:0003196Short nose
31 HP:0004322Short stature
32 HP:0001238Slender finger
33 HP:0000506Telecanthus
34 HP:0000243Trigonocephaly
35 HP:0000582Upslanted palpebral fissure
36 HP:0001629Ventricular septal defectHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004247.3(EFTUD2):c.2770C>T (p.Gln924Ter)9343EFTUD2Pathogenic387906878RCV000023354; NMedGen:C1864652,OMIM:610536,ORPHA:79113174292913142929131NM_004247.3:c.2770C>TNP_004238.3:p.Gln924TerNC_000017.10:g.42929131G>AOMIM Allelic Variant:603892.0002C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.2045+2T>G9343EFTUD2Likely pathogenic863224868RCV000197354; NMedGen:C1864652,OMIM:610536,ORPHA:79113174293444142934441NM_004247.3:c.2045+2T>GNC_000017.10:g.42934441A>C-C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.1910T>G (p.Leu637Arg)9343EFTUD2Pathogenic387906879RCV000023357; NMedGen:C1864652,OMIM:610536,ORPHA:79113174293650042936500NM_004247.3:c.1910T>GNP_004238.3:p.Leu637ArgNC_000017.10:g.42936500A>COMIM Allelic Variant:603892.0005C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.1297_1298delAT (p.Met433Valfs)9343EFTUD2Pathogenic797045551RCV000192370; NMedGen:C1864652,OMIM:610536,ORPHA:79113174294113842941139NM_004247.3:c.1297_1298delATNP_004238.3:p.Met433ValfsNC_000017.10:g.42941138_42941139delAT-C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.1149+1G>C9343EFTUD2Pathogenic797045550RCV000194510; NMedGen:C1864652,OMIM:610536,ORPHA:79113174294517442945174NM_004247.3:c.1149+1G>CNC_000017.10:g.42945174C>G-C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.784C>T (p.Arg262Trp)9343EFTUD2Pathogenic387906877RCV000023353; NMedGen:C1864652,OMIM:610536,ORPHA:79113174295338742953387NM_004247.3:c.784C>TNP_004238.3:p.Arg262TrpNC_000017.10:g.42953387G>AOMIM Allelic Variant:603892.0001C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.764dupT (p.Cys256Valfs)9343EFTUD2Pathogenic794729651RCV000185561; NMedGen:C1864652,OMIM:610536,ORPHA:79113174295340742953407NM_004247.3:c.764dupTNP_004238.3:p.Cys256ValfsNC_000017.10:g.42953407dupA-C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
NM_004247.3(EFTUD2):c.623A>G (p.His208Arg)9343EFTUD2Pathogenic397515431RCV000033145; NMedGen:C1864652,OMIM:610536,ORPHA:79113174295700342957003NM_004247.3:c.623A>GNP_004238.3:p.His208ArgNC_000017.10:g.42957003T>COMIM Allelic Variant:603892.0007C1864652 610536 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate