Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormal pattern of respiration (HP:0002793)help
..Starting node
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Apnea (HP:0002104)help
Term ID: 2104
Name: Apnea
Synonym: Absence of spontaneous respiration; Apneic episodes; Apnoea
Definition: Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Comments:
Reference: HP:0002104
Genes and Diseases:
 
       Child Nodes:
........expandCentral apnea (HP:0002871) help
........expandApneic episodes precipitated by illness, fatigue, stress (HP:0002872) help
........expandSudden episodic apnea (HP:0002882) help
........expandApneic episodes in infancy (HP:0005949) help
........expandSleep apnea (HP:0010535) help
................... HP:0002870 Obstructive sleep apnea
................... HP:0010536 Central sleep apnea

 Sister Nodes: 
..expandCheyne-Stokes respiration (HP:0012196) help
..expandHyperventilation (HP:0002883) help
..expandHypopnea (HP:0040213) help
..expandHypoventilation (HP:0002791) help
..expandIrregular respiration (HP:0012195) help
..expandNight gasping (HP:0031503) help
..expandParadoxical respiration (HP:0030207) help
..expandTachypnea (HP:0002789) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002104HP:0002104Apnea0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3.147
HP:0002104HP:0002104Apnea0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002104HP:0002104Apnea0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0002104HP:0002104Apnea0ACY1 CL E G H95177ORPHA:137754Neurological conditions associated with aminoacylase 1 deficiencyHP:0040283 - Occasional13
HP:0002104HP:0002104Apnea0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002104HP:0002104Apnea0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0002104HP:0002104Apnea0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002104HP:0002104Apnea0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0002104HP:0002104Apnea0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002104HP:0002104Apnea0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002104HP:0002104Apnea0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002104HP:0002104Apnea0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0002104HP:0002104Apnea0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0002104HP:0002104Apnea0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0002104HP:0002104Apnea0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002104HP:0002104Apnea0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0002104HP:0002104Apnea0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0002104HP:0002104Apnea0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0002104HP:0002104Apnea0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0002104HP:0002104Apnea0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0002104HP:0002104Apnea0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002104HP:0002104Apnea0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002104HP:0002104Apnea0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002104HP:0002104Apnea0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0002104HP:0002104Apnea0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002104HP:0002104Apnea0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0002104HP:0002104Apnea0ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0002104HP:0002104Apnea0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002104HP:0002104Apnea0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0002104HP:0002104Apnea0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002104HP:0002104Apnea0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002104HP:0002104Apnea0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002104HP:0002104Apnea0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002104HP:0002104Apnea0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4.
HP:0002104HP:0002104Apnea0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0002104HP:0002104Apnea0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0002104HP:0002104Apnea0BCHE CL E G H590983OMIM:617936BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED67
HP:0002104HP:0002104Apnea0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002104HP:0002104Apnea0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002104HP:0002104Apnea0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0002104HP:0002104Apnea0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0002104HP:0002104Apnea0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0002104HP:0002104Apnea0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0002104HP:0002104Apnea0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0002104HP:0002104Apnea0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0002104HP:0002104Apnea0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0002104HP:0002104Apnea0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0002104HP:0002104Apnea0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002104HP:0002104Apnea0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002104HP:0002104Apnea0CACNA1C CL E G H7751390OMIM:620029572
HP:0002104HP:0002104Apnea0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002104HP:0002104Apnea0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0002104HP:0002104Apnea0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002104HP:0002104Apnea0CC2D2A CL E G H5754529253OMIM:612285Joubert syndrome 9247
HP:0002104HP:0002104Apnea0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0002104HP:0002104Apnea0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0002104HP:0002104Apnea0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002104HP:0002104Apnea0CDC42BPB CL E G H95781738OMIM:619841
HP:0002104HP:0002104Apnea0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002104HP:0002104Apnea0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0002104HP:0002104Apnea0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0002104HP:0002104Apnea0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0002104HP:0002104Apnea0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0002104HP:0002104Apnea0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0002104HP:0002104Apnea0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0002104HP:0002104Apnea0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0002104HP:0002104Apnea0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0002104HP:0002104Apnea0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0002104HP:0002104Apnea0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0002104HP:0002104Apnea0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0002104HP:0002104Apnea0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0002104HP:0002104Apnea0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0002104HP:0002104Apnea0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002104HP:0002104Apnea0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002104HP:0002104Apnea0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0002104HP:0002104Apnea0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002104HP:0002104Apnea0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0002104HP:0002104Apnea0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndrome3
HP:0002104HP:0002104Apnea0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional102
HP:0002104HP:0002104Apnea0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002104HP:0002104Apnea0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0002104HP:0002104Apnea0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0002104HP:0002104Apnea0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002104HP:0002104Apnea0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002104HP:0002104Apnea0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0002104HP:0002104Apnea0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002104HP:0002104Apnea0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0002104HP:0002104Apnea0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0002104HP:0002104Apnea0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002104HP:0002104Apnea0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0002104HP:0002104Apnea0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0002104HP:0002104Apnea0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0002104HP:0002104Apnea0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0002104HP:0002104Apnea0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0002104HP:0002104Apnea0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0002104HP:0002104Apnea0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0002104HP:0002104Apnea0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0002104HP:0002104Apnea0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0002104HP:0002104Apnea0D2HGDH CL E G H72829428358OMIM:600721D-2-Hydroxyglutaric aciduria 1.102
HP:0002104HP:0002104Apnea0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002104HP:0002104Apnea0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002104HP:0002104Apnea0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002104HP:0002104Apnea0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0002104HP:0002104Apnea0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0002104HP:0002104Apnea0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0002104HP:0002104Apnea0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0002104HP:0002104Apnea0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0002104HP:0002104Apnea0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0002104HP:0002104Apnea0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0002104HP:0002104Apnea0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0002104HP:0002104Apnea0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0002104HP:0002104Apnea0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002104HP:0002104Apnea0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0002104HP:0002104Apnea0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0002104HP:0002104Apnea0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0002104HP:0002104Apnea0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0002104HP:0002104Apnea0DPH5 CL E G H5161124270OMIM:620070
HP:0002104HP:0002104Apnea0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0002104HP:0002104Apnea0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0002104HP:0002104Apnea0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency.33
HP:0002104HP:0002104Apnea0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0002104HP:0002104Apnea0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002104HP:0002104Apnea0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0002104HP:0002104Apnea0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002104HP:0002104Apnea0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0002104HP:0002104Apnea0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002104HP:0002104Apnea0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0002104HP:0002104Apnea0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0002104HP:0002104Apnea0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0002104HP:0002104Apnea0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002104HP:0002104Apnea0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002104HP:0002104Apnea0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0002104HP:0002104Apnea0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0002104HP:0002104Apnea0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0002104HP:0002104Apnea0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0002104HP:0002104Apnea0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0002104HP:0002104Apnea0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0002104HP:0002104Apnea0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0002104HP:0002104Apnea0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0002104HP:0002104Apnea0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0002104HP:0002104Apnea0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0002104HP:0002104Apnea0FGFR3 CL E G H22613690ORPHA:429Hypochondroplasia145
HP:0002104HP:0002104Apnea0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0002104HP:0002104Apnea0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0002104HP:0002104Apnea0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0002104HP:0002104Apnea0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0002104HP:0002104Apnea0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0002104HP:0002104Apnea0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0002104HP:0002104Apnea0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0002104HP:0002104Apnea0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0002104HP:0002104Apnea0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002104HP:0002104Apnea0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002104HP:0002104Apnea0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0002104HP:0002104Apnea0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0002104HP:0002104Apnea0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0002104HP:0002104Apnea0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0002104HP:0002104Apnea0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0002104HP:0002104Apnea0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0002104HP:0002104Apnea0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0002104HP:0002104Apnea0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0002104HP:0002104Apnea0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0002104HP:0002104Apnea0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0002104HP:0002104Apnea0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0002104HP:0002104Apnea0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0002104HP:0002104Apnea0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0002104HP:0002104Apnea0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0002104HP:0002104Apnea0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0002104HP:0002104Apnea0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0002104HP:0002104Apnea0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0002104HP:0002104Apnea0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002104HP:0002104Apnea0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0002104HP:0002104Apnea0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0002104HP:0002104Apnea0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0002104HP:0002104Apnea0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0002104HP:0002104Apnea0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002104HP:0002104Apnea0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0002104HP:0002104Apnea0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002104HP:0002104Apnea0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002104HP:0002104Apnea0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0002104HP:0002104Apnea0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0002104HP:0002104Apnea0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0002104HP:0002104Apnea0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002104HP:0002104Apnea0H4C5 CL E G H83674790OMIM:619950
HP:0002104HP:0002104Apnea0HACD1 CL E G H92009639OMIM:6199672
HP:0002104HP:0002104Apnea0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002104HP:0002104Apnea0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0002104HP:0002104Apnea0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0002104HP:0002104Apnea0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0002104HP:0002104Apnea0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0002104HP:0002104Apnea0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0002104HP:0002104Apnea0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0002104HP:0002104Apnea0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0002104HP:0002104Apnea0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0002104HP:0002104Apnea0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0002104HP:0002104Apnea0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002104HP:0002104Apnea0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0002104HP:0002104Apnea0IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0002104HP:0002104Apnea0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0002104HP:0002104Apnea0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002104HP:0002104Apnea0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0002104HP:0002104Apnea0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0002104HP:0002104Apnea0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040283 - Occasional141
HP:0002104HP:0002104Apnea0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002104HP:0002104Apnea0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0002104HP:0002104Apnea0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent528
HP:0002104HP:0002104Apnea0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0002104HP:0002104Apnea0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040282 - Frequent528
HP:0002104HP:0002104Apnea0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent302
HP:0002104HP:0002104Apnea0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0002104HP:0002104Apnea0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0002104HP:0002104Apnea0KIAA0586 CL E G H978619960OMIM:616490Joubert syndrome 23.24
HP:0002104HP:0002104Apnea0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0002104HP:0002104Apnea0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0002104HP:0002104Apnea0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0002104HP:0002104Apnea0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0002104HP:0002104Apnea0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0002104HP:0002104Apnea0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0002104HP:0002104Apnea0LBX1 CL E G H1066016960OMIM:619483CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0002104HP:0002104Apnea0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0002104HP:0002104Apnea0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0002104HP:0002104Apnea0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0002104HP:0002104Apnea0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0002104HP:0002104Apnea0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0002104HP:0002104Apnea0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002104HP:0002104Apnea0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0002104HP:0002104Apnea0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0002104HP:0002104Apnea0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0002104HP:0002104Apnea0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002104HP:0002104Apnea0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0002104HP:0002104Apnea0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0002104HP:0002104Apnea0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002104HP:0002104Apnea0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002104HP:0002104Apnea0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002104HP:0002104Apnea0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002104HP:0002104Apnea0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0002104HP:0002104Apnea0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0002104HP:0002104Apnea0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0002104HP:0002104Apnea0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0002104HP:0002104Apnea0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002104HP:0002104Apnea0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0002104HP:0002104Apnea0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0002104HP:0002104Apnea0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0002104HP:0002104Apnea0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002104HP:0002104Apnea0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0002104HP:0002104Apnea0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002104HP:0002104Apnea0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0002104HP:0002104Apnea0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002104HP:0002104Apnea0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0002104HP:0002104Apnea0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002104HP:0002104Apnea0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0002104HP:0002104Apnea0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002104HP:0002104Apnea0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002104HP:0002104Apnea0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002104HP:0002104Apnea0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0002104HP:0002104Apnea0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0002104HP:0002104Apnea0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0002104HP:0002104Apnea0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0002104HP:0002104Apnea0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0002104HP:0002104Apnea0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0002104HP:0002104Apnea0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0002104HP:0002104Apnea0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002104HP:0002104Apnea0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002104HP:0002104Apnea0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0002104HP:0002104Apnea0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10.26
HP:0002104HP:0002104Apnea0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0002104HP:0002104Apnea0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0002104HP:0002104Apnea0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0002104HP:0002104Apnea0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0002104HP:0002104Apnea0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0002104HP:0002104Apnea0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0002104HP:0002104Apnea0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0002104HP:0002104Apnea0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0002104HP:0002104Apnea0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0002104HP:0002104Apnea0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002104HP:0002104Apnea0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0002104HP:0002104Apnea0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0002104HP:0002104Apnea0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0002104HP:0002104Apnea0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0002104HP:0002104Apnea0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0002104HP:0002104Apnea0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0002104HP:0002104Apnea0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0002104HP:0002104Apnea0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0002104HP:0002104Apnea0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002104HP:0002104Apnea0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0002104HP:0002104Apnea0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0002104HP:0002104Apnea0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002104HP:0002104Apnea0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002104HP:0002104Apnea0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0002104HP:0002104Apnea0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0002104HP:0002104Apnea0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0002104HP:0002104Apnea0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0002104HP:0002104Apnea0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002104HP:0002104Apnea0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0002104HP:0002104Apnea0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent85
HP:0002104HP:0002104Apnea0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0002104HP:0002104Apnea0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0002104HP:0002104Apnea0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0002104HP:0002104Apnea0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0002104HP:0002104Apnea0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0002104HP:0002104Apnea0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0002104HP:0002104Apnea0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002104HP:0002104Apnea0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0002104HP:0002104Apnea0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0002104HP:0002104Apnea0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0002104HP:0002104Apnea0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0002104HP:0002104Apnea0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0002104HP:0002104Apnea0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0002104HP:0002104Apnea0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002104HP:0002104Apnea0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0002104HP:0002104Apnea0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0002104HP:0002104Apnea0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0002104HP:0002104Apnea0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0002104HP:0002104Apnea0PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0002104HP:0002104Apnea0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0002104HP:0002104Apnea0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040281 - Very frequent4
HP:0002104HP:0002104Apnea0PIBF1 CL E G H1046423352OMIM:617767Joubert syndrome 33.4
HP:0002104HP:0002104Apnea0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0002104HP:0002104Apnea0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0002104HP:0002104Apnea0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002104HP:0002104Apnea0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002104HP:0002104Apnea0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0002104HP:0002104Apnea0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0002104HP:0002104Apnea0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0002104HP:0002104Apnea0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.HP:0003623 - Neonatal onset6
HP:0002104HP:0002104Apnea0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002104HP:0002104Apnea0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002104HP:0002104Apnea0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002104HP:0002104Apnea0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0002104HP:0002104Apnea0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0002104HP:0002104Apnea0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002104HP:0002104Apnea0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0002104HP:0002104Apnea0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002104HP:0002104Apnea0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent94
HP:0002104HP:0002104Apnea0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002104HP:0002104Apnea0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0002104HP:0002104Apnea0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0002104HP:0002104Apnea0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0002104HP:0002104Apnea0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0002104HP:0002104Apnea0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0002104HP:0002104Apnea0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0002104HP:0002104Apnea0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0002104HP:0002104Apnea0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0002104HP:0002104Apnea0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0002104HP:0002104Apnea0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0002104HP:0002104Apnea0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002104HP:0002104Apnea0RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0002104HP:0002104Apnea0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0002104HP:0002104Apnea0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0002104HP:0002104Apnea0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent167
HP:0002104HP:0002104Apnea0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent167
HP:0002104HP:0002104Apnea0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0002104HP:0002104Apnea0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0002104HP:0002104Apnea0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002104HP:0002104Apnea0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0002104HP:0002104Apnea0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent427
HP:0002104HP:0002104Apnea0SCN2A CL E G H632610588OMIM:607745Seizures, benign familial infantile, 3.427
HP:0002104HP:0002104Apnea0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16HP:0040283 - Occasional263
HP:0002104HP:0002104Apnea0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040284 - Very rare263
HP:0002104HP:0002104Apnea0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0002104HP:0002104Apnea0SCN5A CL E G H633110593OMIM:272120Sudden infant death syndrome1134
HP:0002104HP:0002104Apnea0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent357
HP:0002104HP:0002104Apnea0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0002104HP:0002104Apnea0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0002104HP:0002104Apnea0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0002104HP:0002104Apnea0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0002104HP:0002104Apnea0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0002104HP:0002104Apnea0SH3BP2 CL E G H645210825ORPHA:184Cherubism177
HP:0002104HP:0002104Apnea0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0002104HP:0002104Apnea0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0002104HP:0002104Apnea0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0002104HP:0002104Apnea0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0002104HP:0002104Apnea0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0002104HP:0002104Apnea0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002104HP:0002104Apnea0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0002104HP:0002104Apnea0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0002104HP:0002104Apnea0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002104HP:0002104Apnea0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0002104HP:0002104Apnea0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0002104HP:0002104Apnea0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0002104HP:0002104Apnea0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0002104HP:0002104Apnea0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0002104Apnea0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0002104HP:0002104Apnea0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002104HP:0002104Apnea0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0002104HP:0002104Apnea0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002104HP:0002104Apnea0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0002104HP:0002104Apnea0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndrome255
HP:0002104HP:0002104Apnea0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0002104HP:0002104Apnea0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0002104HP:0002104Apnea0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0002104HP:0002104Apnea0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 3.HP:0003623 - Neonatal onset81
HP:0002104HP:0002104Apnea0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0002104HP:0002104Apnea0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0002104HP:0002104Apnea0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0002104HP:0002104Apnea0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0002104Apnea0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002104Apnea0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0002104HP:0002104Apnea0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0002104HP:0002104Apnea0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0002104HP:0002104Apnea0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional2
HP:0002104HP:0002104Apnea0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002104HP:0002104Apnea0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0002104HP:0002104Apnea0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002104HP:0002104Apnea0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0002104HP:0002104Apnea0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0002104HP:0002104Apnea0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0002104HP:0002104Apnea0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0002104HP:0002104Apnea0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0002104HP:0002104Apnea0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0002104HP:0002104Apnea0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0002104HP:0002104Apnea0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0002104HP:0002104Apnea0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0002104HP:0002104Apnea0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002104HP:0002104Apnea0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040281 - Very frequent124
HP:0002104HP:0002104Apnea0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0002104HP:0002104Apnea0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0002104HP:0002104Apnea0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0002104HP:0002104Apnea0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0002104HP:0002104Apnea0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0002104HP:0002104Apnea0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0002104HP:0002104Apnea0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0002104HP:0002104Apnea0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0002104HP:0002104Apnea0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional82
HP:0002104HP:0002104Apnea0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040281 - Very frequent45
HP:0002104HP:0002104Apnea0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040281 - Very frequent76
HP:0002104HP:0002104Apnea0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0002104HP:0002104Apnea0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0002104HP:0002104Apnea0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0002104HP:0002104Apnea0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0002104HP:0002104Apnea0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0002104HP:0002104Apnea0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation39
HP:0002104HP:0002104Apnea0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive39
HP:0002104HP:0002104Apnea0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0002104HP:0002104Apnea0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0002104HP:0002104Apnea0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0002104HP:0002104Apnea0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002104HP:0002104Apnea0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0002104HP:0002104Apnea0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0002104HP:0002104Apnea0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent39
HP:0002104HP:0002104Apnea0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0002104HP:0002104Apnea0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent45
HP:0002104HP:0002104Apnea0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0002104HP:0002104Apnea0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002104HP:0002104Apnea0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent33
HP:0002104HP:0002104Apnea0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040281 - Very frequent82
HP:0002104HP:0002104Apnea0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent82
HP:0002104HP:0002104Apnea0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040281 - Very frequent82
HP:0002104HP:0002104Apnea0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040281 - Very frequent166
HP:0002104HP:0002104Apnea0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent166
HP:0002104HP:0002104Apnea0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040283 - Occasional44
HP:0002104HP:0002104Apnea0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0002104HP:0002104Apnea0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0002104HP:0002104Apnea0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0002104HP:0002104Apnea0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0002104HP:0002104Apnea0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0002104HP:0002104Apnea0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0002104HP:0002104Apnea0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0002104HP:0002104Apnea0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0002104HP:0002104Apnea0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0002104HP:0002104Apnea0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0002104HP:0002104Apnea0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4102
HP:0002104HP:0002104Apnea0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0002104HP:0002104Apnea0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome1
HP:0002104HP:0002104Apnea0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0002104HP:0002104Apnea0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0002104HP:0002104Apnea0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0002104HP:0002104Apnea0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0002104HP:0002104Apnea0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0002104Apnea0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002104HP:0002104Apnea0WFS1 CL E G H746612762ORPHA:3463Wolfram syndrome389
HP:0002104HP:0002104Apnea0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002104HP:0002104Apnea0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0002104HP:0002104Apnea0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0002104HP:0002104Apnea0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0002104HP:0002104Apnea0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0002104HP:0002104Apnea0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0002104HP:0002104Apnea0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002104HP:0002104Apnea0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent49
HP:0002104HP:0034236Apnea of prematurity1 CL E G H
HP:0002104HP:0010535Sleep apnea1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002104HP:0005949Apneic episodes in infancy1ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0002104HP:0010535Sleep apnea1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002104HP:0010535Sleep apnea1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0002104HP:0002882Sudden episodic apnea1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0002104HP:0010535Sleep apnea1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0002104HP:0010535Sleep apnea1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002104HP:0010535Sleep apnea1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002104HP:0002871Central apnea1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002104HP:0010535Sleep apnea1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0002104HP:0010535Sleep apnea1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0002104HP:0010535Sleep apnea1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002104HP:0010535Sleep apnea1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002104HP:0002871Central apnea1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0002104HP:0010535Sleep apnea1ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0002104HP:0010535Sleep apnea1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0002104HP:0010535Sleep apnea1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0002104HP:0010535Sleep apnea1ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002104HP:0002871Central apnea1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002104HP:0010535Sleep apnea1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002104HP:0010535Sleep apnea1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002104HP:0010535Sleep apnea1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0002104HP:0010535Sleep apnea1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0002104HP:0010535Sleep apnea1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002104HP:0010535Sleep apnea1CACNA1C CL E G H7751390OMIM:620029572
HP:0002104HP:0005949Apneic episodes in infancy1CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0002104HP:0010535Sleep apnea1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002104HP:0010535Sleep apnea1CDC42BPB CL E G H95781738OMIM:619841
HP:0002104HP:0010535Sleep apnea1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002104HP:0002882Sudden episodic apnea1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0002104HP:0002871Central apnea1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002104HP:0002871Central apnea1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002104HP:0002871Central apnea1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002104HP:0002871Central apnea1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002104HP:0002871Central apnea1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0002104HP:0010535Sleep apnea1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002104HP:0010535Sleep apnea1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0002104HP:0002882Sudden episodic apnea1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0002104HP:0010535Sleep apnea1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0002104HP:0002882Sudden episodic apnea1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0002104HP:0002882Sudden episodic apnea1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0002104HP:0002871Central apnea1CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002104HP:0002882Sudden episodic apnea1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0002104HP:0010535Sleep apnea1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0002104HP:0010535Sleep apnea1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0002104HP:0010535Sleep apnea1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0002104HP:0010535Sleep apnea1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002104HP:0010535Sleep apnea1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002104HP:0010535Sleep apnea1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002104HP:0010535Sleep apnea1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0002104HP:0010535Sleep apnea1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0002104HP:0010535Sleep apnea1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0002104HP:0010535Sleep apnea1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0002104HP:0010535Sleep apnea1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0002104HP:0010535Sleep apnea1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002104HP:0002871Central apnea1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002104HP:0002871Central apnea1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002104HP:0002871Central apnea1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002104HP:0002871Central apnea1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002104HP:0010535Sleep apnea1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0002104HP:0002871Central apnea1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002104HP:0002871Central apnea1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002104HP:0002871Central apnea1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002104HP:0002871Central apnea1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002104HP:0010535Sleep apnea1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002104HP:0010535Sleep apnea1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0002104HP:0010535Sleep apnea1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0002104HP:0010535Sleep apnea1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0002104HP:0010535Sleep apnea1DPH5 CL E G H5161124270OMIM:620070
HP:0002104HP:0010535Sleep apnea1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0002104HP:0010535Sleep apnea1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002104HP:0010535Sleep apnea1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0002104HP:0010535Sleep apnea1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002104HP:0002882Sudden episodic apnea1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002104HP:0005949Apneic episodes in infancy1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0002104HP:0010535Sleep apnea1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002104HP:0005949Apneic episodes in infancy1FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002104HP:0002871Central apnea1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002104HP:0002871Central apnea1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002104HP:0002871Central apnea1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002104HP:0002871Central apnea1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002104HP:0002871Central apnea1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002104HP:0002871Central apnea1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002104HP:0010535Sleep apnea1FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0002104HP:0010535Sleep apnea1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0002104HP:0010535Sleep apnea1FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0002104HP:0002871Central apnea1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0002104HP:0010535Sleep apnea1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0002104HP:0010535Sleep apnea1FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040283 - Occasional145
HP:0002104HP:0010535Sleep apnea1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0002104HP:0010535Sleep apnea1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0002104HP:0002871Central apnea1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002104HP:0002871Central apnea1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002104HP:0002871Central apnea1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002104HP:0002871Central apnea1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002104HP:0010535Sleep apnea1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002104HP:0010535Sleep apnea1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002104HP:0002882Sudden episodic apnea1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0002104HP:0010535Sleep apnea1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent139
HP:0002104HP:0002871Central apnea1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002104HP:0002871Central apnea1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002104HP:0002871Central apnea1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002104HP:0002871Central apnea1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002104HP:0002871Central apnea1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002104HP:0002871Central apnea1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002104HP:0002871Central apnea1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002104HP:0002871Central apnea1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002104HP:0010535Sleep apnea1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0002104HP:0010535Sleep apnea1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0002104HP:0010535Sleep apnea1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0002104HP:0010535Sleep apnea1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0002104HP:0010535Sleep apnea1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0002104HP:0010535Sleep apnea1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome.5
HP:0002104HP:0010535Sleep apnea1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002104HP:0010535Sleep apnea1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent434
HP:0002104HP:0010535Sleep apnea1GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040283 - Occasional53
HP:0002104HP:0010535Sleep apnea1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002104HP:0010535Sleep apnea1H4C5 CL E G H83674790OMIM:619950
HP:0002104HP:0005949Apneic episodes in infancy1HACD1 CL E G H92009639OMIM:6199672
HP:0002104HP:0010535Sleep apnea1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0002104HP:0010535Sleep apnea1HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0002104HP:0010535Sleep apnea1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0002104HP:0010535Sleep apnea1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0002104HP:0010535Sleep apnea1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002104HP:0010535Sleep apnea1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0002104HP:0010535Sleep apnea1IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0002104HP:0002871Central apnea1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0002104HP:0010535Sleep apnea1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0002104HP:0010535Sleep apnea1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0002104HP:0010535Sleep apnea1LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0002104HP:0010535Sleep apnea1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0002104HP:0010535Sleep apnea1LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002104HP:0010535Sleep apnea1LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0002104HP:0002871Central apnea1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0002104HP:0002871Central apnea1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0002104HP:0002871Central apnea1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0002104HP:0010535Sleep apnea1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0002104HP:0010535Sleep apnea1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002104HP:0002882Sudden episodic apnea1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0002104HP:0010535Sleep apnea1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002104HP:0010535Sleep apnea1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0002104HP:0010535Sleep apnea1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0002104HP:0010535Sleep apnea1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002104HP:0002882Sudden episodic apnea1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0002104HP:0010535Sleep apnea1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002104HP:0010535Sleep apnea1NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002104HP:0005949Apneic episodes in infancy1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040283 - Occasional1
HP:0002104HP:0010535Sleep apnea1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002104HP:0010535Sleep apnea1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0002104HP:0010535Sleep apnea1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002104HP:0002871Central apnea1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0002104HP:0010535Sleep apnea1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002104HP:0002871Central apnea1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0002104HP:0010535Sleep apnea1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002104HP:0002871Central apnea1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002104HP:0005949Apneic episodes in infancy1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0002104HP:0010535Sleep apnea1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0002104HP:0010535Sleep apnea1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002104HP:0010535Sleep apnea1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002104HP:0010535Sleep apnea1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002104HP:0002871Central apnea1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002104HP:0002871Central apnea1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002104HP:0002871Central apnea1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002104HP:0002871Central apnea1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002104HP:0010535Sleep apnea1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002104HP:0010535Sleep apnea1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0002104HP:0002882Sudden episodic apnea1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0002104HP:0010535Sleep apnea1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0002104HP:0002871Central apnea1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0002104HP:0002871Central apnea1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0002104HP:0010535Sleep apnea1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0002104HP:0010535Sleep apnea1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0002104HP:0002871Central apnea1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002104HP:0010535Sleep apnea1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0002104HP:0010535Sleep apnea1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002104HP:0010535Sleep apnea1PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0002104HP:0010535Sleep apnea1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0002104HP:0005949Apneic episodes in infancy1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040284 - Very rare133
HP:0002104HP:0010535Sleep apnea1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0002104HP:0002871Central apnea1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002104HP:0010535Sleep apnea1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002104HP:0010535Sleep apnea1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002104HP:0010535Sleep apnea1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002104HP:0010535Sleep apnea1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0002104HP:0010535Sleep apnea1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0002104HP:0010535Sleep apnea1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0002104HP:0010535Sleep apnea1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002104HP:0002871Central apnea1PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0002104HP:0002871Central apnea1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002104HP:0002871Central apnea1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0002104HP:0002871Central apnea1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002104HP:0002871Central apnea1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002104HP:0010535Sleep apnea1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0002104HP:0010535Sleep apnea1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0002104HP:0010535Sleep apnea1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0002104HP:0010535Sleep apnea1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002104HP:0010535Sleep apnea1RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0002104HP:0002871Central apnea1RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0002104HP:0010535Sleep apnea1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0002104HP:0010535Sleep apnea1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0002104HP:0010535Sleep apnea1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0002104HP:0005949Apneic episodes in infancy1SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated.263
HP:0002104HP:0005949Apneic episodes in infancy1SCN5A CL E G H633110593OMIM:272120Sudden infant death syndrome.1134
HP:0002104HP:0010535Sleep apnea1SH3BP2 CL E G H645210825ORPHA:184Cherubism177
HP:0002104HP:0002871Central apnea1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002104HP:0002871Central apnea1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0002104HP:0002871Central apnea1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002104HP:0002871Central apnea1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002104HP:0010535Sleep apnea1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0002104HP:0010535Sleep apnea1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002104HP:0002871Central apnea1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0002871Central apnea1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002104HP:0002871Central apnea1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0002871Central apnea1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0010535Sleep apnea1SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0002104HP:0002882Sudden episodic apnea1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002104HP:0010535Sleep apnea1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0002882Sudden episodic apnea1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0002104HP:0010535Sleep apnea1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0002104HP:0002882Sudden episodic apnea1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0002104HP:0002871Central apnea1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0002104HP:0002882Sudden episodic apnea1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0002104HP:0002882Sudden episodic apnea1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0002104HP:0010535Sleep apnea1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0002104HP:0002882Sudden episodic apnea1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0002104HP:0002871Central apnea1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002104HP:0010535Sleep apnea1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0002882Sudden episodic apnea1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0010535Sleep apnea1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0002104HP:0010535Sleep apnea1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0002104HP:0002871Central apnea1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0002104HP:0010535Sleep apnea1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0002104HP:0010535Sleep apnea1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0002104HP:0002871Central apnea1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0002104HP:0002871Central apnea1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0002104HP:0010535Sleep apnea1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0002104HP:0010535Sleep apnea1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0002104HP:0010535Sleep apnea1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002104HP:0010535Sleep apnea1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040282 - Frequent50
HP:0002104HP:0002871Central apnea1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002104HP:0002871Central apnea1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002104HP:0002871Central apnea1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002104HP:0002871Central apnea1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0002104HP:0002871Central apnea1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002104HP:0002871Central apnea1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002104HP:0010535Sleep apnea1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0002104HP:0010535Sleep apnea1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002104HP:0002871Central apnea1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002104HP:0010535Sleep apnea1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0002104HP:0002882Sudden episodic apnea1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0002104HP:0002871Central apnea1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040283 - Occasional1
HP:0002104HP:0010535Sleep apnea1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040282 - Frequent241
HP:0002104HP:0002871Central apnea1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002104HP:0002871Central apnea1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0002104HP:0002871Central apnea1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002104HP:0002871Central apnea1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002104HP:0002871Central apnea1TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040283 - Occasional39
HP:0002104HP:0002871Central apnea1TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0002104HP:0010535Sleep apnea1TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0002104HP:0002871Central apnea1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0002871Central apnea1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002104HP:0002871Central apnea1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0002871Central apnea1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002104HP:0002871Central apnea1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0002104HP:0010535Sleep apnea1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0002104HP:0002871Central apnea1TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040282 - Frequent102
HP:0002104HP:0010535Sleep apnea1TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040281 - Very frequent1
HP:0002104HP:0010535Sleep apnea1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0002104HP:0010535Sleep apnea1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0002104HP:0010535Sleep apnea1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002104HP:0010535Sleep apnea1USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0002882Sudden episodic apnea1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0002104HP:0010535Sleep apnea1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002104HP:0010535Sleep apnea1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002104HP:0002871Central apnea1WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002104HP:0010535Sleep apnea1ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002104HP:0002871Central apnea1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002104HP:0002871Central apnea1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0002104HP:0002871Central apnea1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002104HP:0002871Central apnea1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0002104HP:0010535Sleep apnea1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002104HP:0010536Central sleep apnea2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0002104HP:0002870Obstructive sleep apnea2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0002104HP:0002870Obstructive sleep apnea2AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0002104HP:0002870Obstructive sleep apnea2AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0002104HP:0002870Obstructive sleep apnea2ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0002104HP:0010536Central sleep apnea2ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040281 - Very frequent15
HP:0002104HP:0002870Obstructive sleep apnea2ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002104HP:0002870Obstructive sleep apnea2ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomaliesHP:0040284 - Very rare16
HP:0002104HP:0002870Obstructive sleep apnea2BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002104HP:0002870Obstructive sleep apnea2BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0002104HP:0002870Obstructive sleep apnea2CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002104HP:0002870Obstructive sleep apnea2CACNA1C CL E G H7751390OMIM:620029572
HP:0002104HP:0010536Central sleep apnea2CACNA1C CL E G H7751390OMIM:620029572
HP:0002104HP:0010536Central sleep apnea2CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0002104HP:0002870Obstructive sleep apnea2CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0002104HP:0002870Obstructive sleep apnea2CDC42BPB CL E G H95781738OMIM:619841
HP:0002104HP:0010536Central sleep apnea2CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002104HP:0002870Obstructive sleep apnea2CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002104HP:0002870Obstructive sleep apnea2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0002104HP:0010536Central sleep apnea2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0002104HP:0010536Central sleep apnea2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0002104HP:0002870Obstructive sleep apnea2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0002104HP:0010536Central sleep apnea2COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002104HP:0010536Central sleep apnea2COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002104HP:0002870Obstructive sleep apnea2CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002104HP:0002870Obstructive sleep apnea2CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0002104HP:0002870Obstructive sleep apnea2CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0002104HP:0002870Obstructive sleep apnea2CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0002104HP:0002870Obstructive sleep apnea2DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002104HP:0010536Central sleep apnea2DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0002104HP:0002870Obstructive sleep apnea2DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002104HP:0002870Obstructive sleep apnea2DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0002104HP:0002870Obstructive sleep apnea2DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6HP:0040283 - Occasional41
HP:0002104HP:0002870Obstructive sleep apnea2DPH5 CL E G H5161124270OMIM:620070
HP:0002104HP:0002870Obstructive sleep apnea2EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0002104HP:0002870Obstructive sleep apnea2EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002104HP:0002870Obstructive sleep apnea2EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0002104HP:0002870Obstructive sleep apnea2EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002104HP:0010536Central sleep apnea2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002104HP:0002870Obstructive sleep apnea2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002104HP:0002870Obstructive sleep apnea2FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0002104HP:0010536Central sleep apnea2FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0002104HP:0002870Obstructive sleep apnea2FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002104HP:0002870Obstructive sleep apnea2FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002104HP:0002870Obstructive sleep apnea2GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0002104HP:0002870Obstructive sleep apnea2GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0002104HP:0002870Obstructive sleep apnea2GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0002104HP:0002870Obstructive sleep apnea2GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002104HP:0002870Obstructive sleep apnea2H4C5 CL E G H83674790OMIM:619950
HP:0002104HP:0002870Obstructive sleep apnea2HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002104HP:0002870Obstructive sleep apnea2IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002104HP:0002870Obstructive sleep apnea2IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0002104HP:0002870Obstructive sleep apnea2IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0002104HP:0002870Obstructive sleep apnea2LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0002104HP:0010536Central sleep apnea2LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0002104HP:0010536Central sleep apnea2MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0002104HP:0002870Obstructive sleep apnea2MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0002104HP:0002870Obstructive sleep apnea2MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0002104HP:0002870Obstructive sleep apnea2MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0002104HP:0002870Obstructive sleep apnea2MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0002104HP:0002870Obstructive sleep apnea2MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002104HP:0002870Obstructive sleep apnea2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0002104HP:0010536Central sleep apnea2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0002104HP:0002870Obstructive sleep apnea2NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002104HP:0010536Central sleep apnea2NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002104HP:0002870Obstructive sleep apnea2NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0002104HP:0002870Obstructive sleep apnea2NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0002104HP:0002870Obstructive sleep apnea2NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0002104HP:0002870Obstructive sleep apnea2NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002104HP:0002870Obstructive sleep apnea2NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0002104HP:0002870Obstructive sleep apnea2NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002104HP:0010536Central sleep apnea2NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002104HP:0002870Obstructive sleep apnea2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002104HP:0002870Obstructive sleep apnea2OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0002104HP:0002870Obstructive sleep apnea2OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0002104HP:0002870Obstructive sleep apnea2OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002104HP:0002870Obstructive sleep apnea2PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0002104HP:0010536Central sleep apnea2PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040281 - Very frequent86
HP:0002104HP:0002870Obstructive sleep apnea2PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002104HP:0010536Central sleep apnea2PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002104HP:0002870Obstructive sleep apnea2PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0002104HP:0002870Obstructive sleep apnea2POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0002104HP:0002870Obstructive sleep apnea2POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002104HP:0002870Obstructive sleep apnea2PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002104HP:0010536Central sleep apnea2PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040283 - Occasional49
HP:0002104HP:0002870Obstructive sleep apnea2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002104HP:0010536Central sleep apnea2RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040281 - Very frequent572
HP:0002104HP:0002870Obstructive sleep apnea2SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0002104HP:0002870Obstructive sleep apnea2SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0002104HP:0010536Central sleep apnea2SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0002104HP:0002870Obstructive sleep apnea2SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0002104HP:0002870Obstructive sleep apnea2SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0002104HP:0002870Obstructive sleep apnea2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0002104HP:0010536Central sleep apnea2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0002870Obstructive sleep apnea2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0002104HP:0010536Central sleep apnea2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0002104HP:0010536Central sleep apnea2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0002104HP:0002870Obstructive sleep apnea2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0002104HP:0010536Central sleep apnea2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0002870Obstructive sleep apnea2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0002104HP:0002870Obstructive sleep apnea2SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0002104HP:0002870Obstructive sleep apnea2SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0002104HP:0002870Obstructive sleep apnea2SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0002104HP:0002870Obstructive sleep apnea2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0002104HP:0010536Central sleep apnea2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0002104HP:0002870Obstructive sleep apnea2TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0002104HP:0002870Obstructive sleep apnea2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0002104HP:0002870Obstructive sleep apnea2UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0002104HP:0010536Central sleep apnea2USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0002104HP:0010536Central sleep apnea2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0002104HP:0002870Obstructive sleep apnea2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0002104HP:0002870Obstructive sleep apnea2ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC


Genes (349) :ABCA3 ABCC9 ACADSB ACY1 ADAM22 ADGRG1 AFF4 AGRN AHDC1 AHI1 AIP ALPL AMER1 AP3D1 ARCN1 ARL13B ARL3 ARMC9 ARSB ARSL ASCL1 ASXL1 ATN1 ATP1A2 ATP1A3 ATP5F1A ATP6 B9D1 B9D2 BCHE BICD2 BMP2 BRAF BRAT1 BTD BUB1 BUB1B BUB3 C2CD3 CA2 CACNA1A CACNA1C CAMK2B CBY1 CC2D2A CCDC47 CDC42BPB CDK13 CDKL5 CDON CEP104 CEP120 CEP290 CEP41 CEP57 CHAMP1 CHAT CHRNE CISD2 CLCN7 COL13A1 COL3A1 COLQ COQ2 COX15 CPLANE1 CPT2 CREBBP CRYAB CSPP1 CTNNB1 CTSD CTSK D2HGDH DCTN1 DDB1 DDC DISP1 DKK1 DLL1 DMD DNA2 DPAGT1 DPH1 DPH5 DST ECHS1 EDN1 EP300 EXOC2 FAM149B1 FARS2 FBN1 FBP1 FBXO28 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FLCN FOXH1 FOXRED1 FUZ FXR1 GABBR2 GABRG2 GAS1 GBA1 GLI2 GLRA1 GLUL GNAI3 GNB2 GNE GNPTAB GPHN GPR101 GRB10 GRIK2 GRIN1 GRIN2A GSN GUSB H4C5 HACD1 HDAC4 HERC2 HMGCL HRAS HSPD1 HSPG2 HTRA2 HYLS1 IDS IDUA INPP5E IPW KAT6B KATNIP KCNJ11 KCNQ2 KCNQ3 KIAA0586 KIAA0753 KIF5A KIF7 LAMB2 LARP7 LBX1 LIAS LIFR LIPT1 LRPPRC LRRC32 LTBP3 MAGEL2 MCCC1 MCM3AP MECP2 MED27 MINPP1 MKRN3 MKRN3-AS1 MKS1 MOGS MRPS34 MTFMT MTHFR MYL1 MYO1H MYO9A NAA10 NACC1 NADK2 NALCN ND1 ND2 ND3 ND4 ND5 ND6 NDN NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF5 NDUFAF6 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEFH NEK1 NFIX NGLY1 NODAL NONO NPAP1 NPHP1 NTNG1 OCA2 OFD1 OPA1 P4HTM PCCA PCCB PCGF2 PCK1 PDE6D PDHA1 PET100 PEX13 PEX5 PHOX2B PI4KA PIBF1 PIGT PLA2G6 PLAA PLCB4 PLCH1 PLPBP POGZ PRKAR1B PRMT7 PRNP PRPH PRPS1 PRR12 PRRT2 PSAP PSAT1 PTCH1 PTF1A PURA PWAR1 PWRN1 RAI1 RARS2 RBM10 RERE RET RNF125 RPGRIP1L RPS6KA3 RUNX2 SATB2 SCN2A SCN4A SCN5A SCN8A SCO1 SCO2 SDHA SEPSECS SFTPB SH3BP2 SHH SIM1 SIN3A SIX3 SKI SLC18A3 SLC19A3 SLC1A3 SLC25A1 SLC25A12 SLC25A20 SLC2A1 SLC39A8 SLC5A7 SLC6A5 SLC6A9 SMC1A SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX10 SOD1 SOX9 SPOP SRPX2 STAG2 STAT2 STIL SUCLG1 SUFU SURF1 SYT1 SYT2 TACO1 TBR1 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TERT TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNFSF11 TOE1 TOGARAM1 TOPORS TRIP13 TRNK TRNL1 TRNV TRNW TRPV4 TSEN15 TSEN2 TSEN34 TSEN54 TSPYL1 TWIST1 UNC80 USP7 VAMP1 VPS51 WFS1 ZBTB7A ZC4H2 ZIC2 ZMYM2 ZNF423

Diseases (276) :OMIM:610921 OMIM:619719 OMIM:610006 ORPHA:137754 OMIM:617933 ORPHA:98889 OMIM:616368 ORPHA:444077 ORPHA:98914 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:963 OMIM:241500 OMIM:300373 OMIM:617050 OMIM:617164 OMIM:618161 OMIM:617622 OMIM:253200 ORPHA:79345 ORPHA:99803 ORPHA:97297 OMIM:618494 ORPHA:2131 OMIM:619605 OMIM:619606 OMIM:615228 ORPHA:255210 OMIM:617936 OMIM:615290 OMIM:617877 ORPHA:54595 OMIM:618056 OMIM:614498 ORPHA:79241 OMIM:253260 ORPHA:1052 ORPHA:434179 ORPHA:2785 OMIM:620029 OMIM:617799 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:618268 OMIM:619841 OMIM:617360 ORPHA:3095 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:610188 OMIM:614114 OMIM:616579 OMIM:254210 OMIM:605809 ORPHA:3463 ORPHA:667 ORPHA:286 ORPHA:98915 ORPHA:227510 ORPHA:98933 ORPHA:255241 ORPHA:2754 OMIM:608836 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:613869 OMIM:615636 ORPHA:397715 OMIM:610127 ORPHA:763 OMIM:600721 OMIM:105400 OMIM:619426 OMIM:608643 ORPHA:268882 OMIM:310200 ORPHA:352470 OMIM:615156 OMIM:608093 ORPHA:459061 OMIM:620070 OMIM:614653 OMIM:616277 ORPHA:137888 ORPHA:353284 OMIM:619306 ORPHA:466722 ORPHA:2462 OMIM:229700 ORPHA:348 OMIM:619777 OMIM:301058 OMIM:123500 ORPHA:794 ORPHA:15 OMIM:616482 ORPHA:429 OMIM:610883 ORPHA:1136 OMIM:618823 OMIM:618822 OMIM:617903 ORPHA:1945 OMIM:608013 OMIM:230900 OMIM:149400 OMIM:610015 OMIM:602483 OMIM:619503 OMIM:269921 ORPHA:3166 ORPHA:576 OMIM:300942 ORPHA:96182 OMIM:619580 OMIM:619814 ORPHA:85448 OMIM:253220 OMIM:619950 OMIM:619967 OMIM:619797 OMIM:176270 ORPHA:20 OMIM:218040 OMIM:612233 ORPHA:800 OMIM:617248 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607015 OMIM:607016 OMIM:213300 ORPHA:85201 ORPHA:79644 ORPHA:306 ORPHA:1949 ORPHA:439218 OMIM:616490 OMIM:617235 ORPHA:319671 OMIM:619483 OMIM:614462 ORPHA:3206 OMIM:601559 ORPHA:70472 OMIM:619074 OMIM:617809 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:210200 OMIM:618124 OMIM:300673 OMIM:300055 OMIM:312750 OMIM:619286 OMIM:619527 ORPHA:79330 OMIM:617664 ORPHA:395 OMIM:618414 OMIM:619482 OMIM:618198 OMIM:300855 OMIM:617393 ORPHA:500545 ORPHA:431361 ORPHA:371364 OMIM:618236 OMIM:618235 OMIM:618253 OMIM:618233 ORPHA:70474 OMIM:618226 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:256030 ORPHA:2751 OMIM:602535 ORPHA:404454 OMIM:615273 ORPHA:466791 ORPHA:220497 OMIM:616896 OMIM:618493 OMIM:606054 OMIM:618371 OMIM:261680 OMIM:312170 OMIM:614883 OMIM:214110 OMIM:209880 OMIM:617767 ORPHA:369837 ORPHA:35069 OMIM:617527 ORPHA:521426 OMIM:614669 OMIM:617290 OMIM:616364 ORPHA:468678 OMIM:619680 ORPHA:464288 OMIM:600072 ORPHA:423479 OMIM:619539 OMIM:611722 OMIM:610992 OMIM:609069 ORPHA:314655 ORPHA:1713 OMIM:611523 ORPHA:2886 OMIM:616975 OMIM:616260 OMIM:611560 ORPHA:192 ORPHA:1452 OMIM:612313 ORPHA:251028 OMIM:607745 OMIM:614198 ORPHA:99734 OMIM:608390 OMIM:272120 OMIM:619048 ORPHA:2524 OMIM:265120 ORPHA:184 ORPHA:398079 OMIM:613406 OMIM:182212 OMIM:617239 OMIM:612949 ORPHA:159 ORPHA:71277 ORPHA:468699 OMIM:617143 OMIM:614618 OMIM:617301 OMIM:114290 OMIM:618829 OMIM:618886 ORPHA:17 OMIM:618218 ORPHA:522077 ORPHA:1617 ORPHA:2896 ORPHA:320385 OMIM:615031 OMIM:614742 OMIM:617563 OMIM:608091 OMIM:614969 OMIM:606071 ORPHA:166063 OMIM:608800 ORPHA:168593 ORPHA:500055 OMIM:616863 OMIM:618606 OMIM:619769 OMIM:314580 OMIM:619522
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.