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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandCataract (D002386)
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandFacies (D019066)
Parent Node:
expandHearing Loss (D034381)
Parent Node:
expandMicrocephaly (D008831)
..Starting node
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)

       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:7177
Name:Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002386|MESH:D002658|MESH:D008831|MESH:D019066|MESH:D034381
TreeNumbers:C05.660.207.620/C567849 |C09.218.458.341/C567849 |C10.500.507.400.500/C567849 |C10.597.751.418.341/C567849 |C11.510.245/C567849 |C16.131.077/C567849 |C16.131.621.207.620/C567849 |C16.131.666.507.400.500/C567849 |C23.550.291.812/C567849 |C23.888.592.763.393.341/C5
Synonyms:
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567849
MeSH: C567849
OMIM: 612947;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000455Broad nasal tip
3 HP:0000414Bulbous nose
4 HP:0000518Cataract
5 HP:0000028Cryptorchidism
6 HP:0004325Decreased body weight
7 HP:0002750Delayed skeletal maturation
8 HP:0000958Dry skin
9 HP:0000964Eczema
10 HP:0000969Edema
11 HP:0000286Epicanthus
12 HP:0003241External genital hypoplasia
13 HP:0002283Global brain atrophy
14 HP:0001263Global developmental delay
15 HP:0000365Hearing impairment
16 HP:0000252Microcephaly
17 HP:0008897Postnatal growth retardation
18 HP:0000278Retrognathia
19 HP:0001250Seizure
20 HP:0004279Short palm
21 HP:0004322Short stature
22 HP:0001831Short toe
Disease Causing ClinVar Variants