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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 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:11554173
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 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 Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 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 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 Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 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 Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
G Pde2a phosphodiesterase 2A JBrowse link 1 166,534,643 166,626,158 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 JBrowse link 6 76,386,971 76,661,530 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:8554872
G Sox5 SRY-box transcription factor 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Tbr1 T-box brain transcription factor 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tcf20 transcription factor 20 JBrowse link 7 123,670,135 123,767,797 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Usp7 ubiquitin specific peptidase 7 JBrowse link 10 6,930,462 7,019,910 RGD:8554872
G Vars1 valyl-tRNA synthetase 1 JBrowse link 20 4,993,539 5,008,259 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 cytoskeletal adaptor 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 Avil advillin JBrowse link 7 70,292,565 70,310,588 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
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:7240710
RGD:8554872
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
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsx2 GS homeobox 2 JBrowse link 14 35,650,985 35,652,709 RGD:8554872
RGD:7240710
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11576290
RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11554173
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:11554173
RGD:8554872
RGD:12910952
RGD:12910948
FG Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
G Nlgn3 neuroligin 3 JBrowse link X 71,199,390 71,227,460 RGD:8554872
FG Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
RGD:7240710
FG Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
RGD:7240710
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
fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chml CHM like Rab escort protein JBrowse link 13 93,740,759 93,742,624 RGD:8554872
G Exo1 exonuclease 1 JBrowse link 13 93,936,989 93,962,749 RGD:8554872
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:7240710
RGD:8554872
G Kmo kynurenine 3-monooxygenase JBrowse link 13 93,684,324 93,715,378 RGD:8554872
G Opn3 opsin 3 JBrowse link 13 93,716,481 93,746,994 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Wdr64 WD repeat domain 64 JBrowse link 13 93,751,754 93,874,149 RGD:8554872
glycogen storage disease IXa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:7240710
RGD:8554872
RGD:26884355
RGD:26884354
RGD:26884353
glycogen storage disease IXb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkb phosphorylase kinase regulatory subunit beta JBrowse link 19 22,031,684 22,281,788 RGD:7240710
RGD:8554872
glycogen storage disease IXc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
RGD:7240710
glycogen storage disease IXd term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:7240710
RGD:8554872
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars1 isoleucyl-tRNA synthetase 1 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-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
Infantile Hypotonia 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
Infantile Hypotonia 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
Infantile Hypotonia 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
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 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
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
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 13 25,656,983 25,752,792 RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 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 BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntng2 netrin G2 JBrowse link 3 7,742,511 7,800,834 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vamp2 vesicle-associated membrane protein 2 JBrowse link 10 55,675,171 55,679,405 RGD:7240710
RGD:8554872
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K JBrowse link 2 257,911,099 257,997,735 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2a RNA polymerase II subunit A JBrowse link 10 56,339,277 56,364,888 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
RGD:7240710
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
Snijders Blok-Fisher Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pou3f3 POU class 3 homeobox 3 JBrowse link 9 49,479,148 49,482,246 RGD:7240710
RGD:8554872
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 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
G Obsl1 obscurin like cytoskeletal adaptor 1 JBrowse link 9 82,673,871 82,699,577 RGD:8554872
Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Obsl1 obscurin like cytoskeletal adaptor 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
Path 1
Term Annotations click to browse term
  disease 16021
    Pathological Conditions, Signs and Symptoms 8490
      Signs and Symptoms 4963
        Neurologic Manifestations 3904
          Neuromuscular Manifestations 323
            Muscle Hypotonia 96
              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
              Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
              Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 1
              De Hauwere syndrome 0
              Der Kaloustian Mcintosh Silver Syndrome 0
              Desanto-Shinawi Syndrome 1
              Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 1
              Emanuel Syndrome 0
              Ethanolaminosis 0
              FG syndrome + 7
              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
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
              Joubert syndrome 10 1
              Joubert syndrome 3 1
              Joubert syndrome 5 2
              Ketoadipicaciduria 0
              Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 0
              NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES 1
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 1
              NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 1
              Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
              Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 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
              SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE 1
              Snijders Blok-Fisher Syndrome 1
              Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
              autosomal dominant mental retardation 20 1
              combined oxidative phosphorylation deficiency 3 2
              fumarase deficiency 7
              glycogen storage disease IX + 4
              hypotonia-cystinuria syndrome 4
              multiple congenital anomalies-hypotonia-seizures syndrome + 5
              scalp-ear-nipple syndrome 1
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.