ONTOLOGY REPORT - ANNOTATIONS


Term:Muscle Hypotonia
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Accession:DOID:9005603 term browser browse the term
Definition:A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Synonyms:exact_synonym: Decreased Muscle Tone;   Flaccid Muscle Tone;   Floppy Muscle;   Floppy Muscles;   Hypomyotonia;   Hypotonia;   Hypotonias, Unilateral;   Muscle Flaccidity;   Muscle Hypotony;   Muscle Tone Atonic;   Muscle Tone Atonics;   Muscle Tone Poor;   Muscular Flaccidities;   Muscular Flaccidity;   Muscular Hypotonia;   Neonatal Hypotonia;   Neonatal Hypotonias;   Unilateral Hypotonia
 narrow_synonym: GENERALIZED HYPOTONIA
 primary_id: MESH:D009123;   RDO:0000361
For additional species annotation, visit the Alliance of Genome Resources.


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Muscle Hypotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:11554173
G Acot1 acyl-CoA thioesterase 1 JBrowse link 6 107,485,088 107,493,082 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:8554872
G Calhm4 calcium homeostasis modulator family member 4 JBrowse link 20 27,573,809 27,578,269 RGD:8554872
G Calhm5 calcium homeostasis modulator family member 5 JBrowse link 20 27,651,817 27,673,817 RGD:8554872
G Calhm6 calcium homeostasis modulator family member 6 JBrowse link 20 27,681,138 27,683,580 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Dcbld1 discoidin, CUB and LCCL domain containing 1 JBrowse link 20 33,359,062 33,455,161 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:734884
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:8554872
G Frk fyn-related Src family tyrosine kinase JBrowse link 20 41,266,408 41,383,731 RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gopc golgi associated PDZ and coiled-coil motif containing JBrowse link 20 33,471,355 33,521,281 RGD:8554872
G Gprc6a G protein-coupled receptor, class C, group 6, member A JBrowse link 20 32,607,653 32,628,953 RGD:8554872
G Hdac2 histone deacetylase 2 JBrowse link 20 43,084,870 43,108,198 RGD:8554872
G Heatr4 HEAT repeat containing 4 JBrowse link 6 107,423,214 107,460,450 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 JBrowse link 20 40,236,437 40,545,502 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Kpna5 karyopherin subunit alpha 5 JBrowse link 20 32,509,573 32,573,591 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 14 82,227,790 82,267,298 RGD:11554173
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Marcks myristoylated alanine rich protein kinase C substrate JBrowse link 20 42,966,140 42,971,838 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
G Mllt1 MLLT1, super elongation complex subunit JBrowse link 9 10,110,389 10,155,305 RGD:8554872
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:8554872
G Rfpl4b ret finger protein-like 4B JBrowse link 20 43,929,386 43,955,762 RGD:8554872
G Rfx6 regulatory factor X, 6 JBrowse link 20 32,709,282 32,764,040 RGD:8554872
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase JBrowse link 20 33,100,190 33,323,544 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link 13 109,338,761 109,589,209 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rwdd1 RWD domain containing 1 JBrowse link 20 27,534,361 27,552,225 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sox5 SRY box 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Tbr1 T-box, brain, 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Trappc3l trafficking protein particle complex 3-like JBrowse link 20 27,578,268 27,664,689 RGD:8554872
G Tspyl1 TSPY-like 1 JBrowse link 20 41,083,317 41,085,876 RGD:8554872
G Tspyl4 TSPY-like 4 JBrowse link 20 41,100,071 41,102,067 RGD:8554872
G Usp7 ubiquitin specific peptidase 7 JBrowse link 10 6,930,462 7,019,910 RGD:8554872
G Vars valyl-tRNA synthetase JBrowse link 20 4,993,539 5,008,259 RGD:8554872
G Vgll2 vestigial-like family member 2 JBrowse link 20 33,077,106 33,082,962 RGD:8554872
G Zup1 zinc finger containing ubiquitin peptidase 1 JBrowse link 20 32,471,670 32,501,693 RGD:8554872
3-M syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:13592920
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:11554173
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
RGD:13592920
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
Birk-Barel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:7240710
RGD:8554872
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
Cohen Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir875 microRNA 875 JBrowse link 7 74,423,233 74,423,305 RGD:8554872
G Vps13b vacuolar protein sorting 13 homolog B JBrowse link 7 74,118,834 74,722,341 RGD:7240710
RGD:8554872
RGD:11554173
Combined Oxidative Phosphorylation Deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
RGD:7240710
Desanto-Shinawi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wac WW domain containing adaptor with coiled-coil JBrowse link 17 60,887,606 60,946,630 RGD:8554872
RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Fumaric Aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:7240710
RGD:8554872
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars isoleucyl-tRNA synthetase JBrowse link 17 15,356,016 15,402,680 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:8554872
RGD:7240710
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:7240710
RGD:8554872
RGD:12911215
RGD:12914762
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
RGD:7240710
RGD:11528248
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link 2 237,751,646 237,958,497 RGD:8554872
RGD:7240710
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc174 coiled-coil domain containing 174 JBrowse link 4 123,760,708 123,787,529 RGD:8554872
RGD:7240710
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535965
RGD:11535963
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 9 60,451,476 60,843,160 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock3 dedicator of cyto-kinesis 3 JBrowse link 8 115,627,282 115,982,260 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prune1 prune exopolyphosphatase 1 JBrowse link 2 196,427,714 196,457,105 RGD:8554872
RGD:7240710
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:8554872
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710
Scalp Ear Nipple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd1 potassium channel tetramerization domain containing 1 JBrowse link 18 6,374,778 6,474,990 RGD:7240710
RGD:8554872
Three M Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul7 cullin 7 JBrowse link 9 16,629,491 16,643,527 RGD:8554872
RGD:7240710
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:7240710
RGD:8554872
Three M Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc8 coiled-coil domain containing 8 JBrowse link 1 78,933,372 78,936,700 RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 14920
    Pathological Conditions, Signs and Symptoms 7743
      Signs and Symptoms 4469
        Neurologic Manifestations 3384
          Neuromuscular Manifestations 325
            Muscle Hypotonia 114
              3-M syndrome + 3
              AL-RAQAD SYNDROME 1
              ALAZAMI-YUAN SYNDROME 1
              Allan-Herndon-Dudley syndrome 1
              Atonic-Astatic Syndrome of Foerster 0
              Birk-Barel syndrome 1
              CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
              Carnitine Acetyltransferase Deficiency 1
              Cohen Syndrome 2
              Combined Oxidative Phosphorylation Deficiency 3 3
              Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
              Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 0
              De Hauwere syndrome 0
              Der Kaloustian Mcintosh Silver Syndrome 0
              Desanto-Shinawi Syndrome 1
              Emanuel Syndrome 0
              Ethanolaminosis 0
              FG syndrome 13
              Fumaric Aciduria 1
              GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 1
              German Syndrome 0
              Grubben de Cock Borghgraef Syndrome 0
              HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
              HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
              Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
              Hypotonia, Seizures, and Precocious Puberty 0
              Infantile Hypotonia with Psychomotor Retardation + 4
              Joubert syndrome 10 1
              Joubert syndrome 3 4
              Joubert syndrome 5 2
              Ketoadipicaciduria 0
              Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 1
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 1
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA 1
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Qazi Markouizos syndrome 0
              Scalp Ear Nipple Syndrome 1
              Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
              autosomal dominant mental retardation 20 1
              hypotonia-cystinuria syndrome 4
              multiple congenital anomalies-hypotonia-seizures syndrome + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.