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 H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0002104HP:0002104Apnea0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
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: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:0010535Sleep apnea1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002104HP:0002882Sudden episodic apnea1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0002104HP:0002872Apneic episodes precipitated by illness, fatigue, stress1CHRNE 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:0002872Apneic episodes precipitated by illness, fatigue, stress1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
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: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:0010535Sleep apnea1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0002104HP:0002871Central 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 H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0002104HP:0010535Sleep apnea1GNE CL E G H1002023657OMIM:269921SIALURIA.173
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:0010535Sleep apnea1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
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: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: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:0002882Sudden episodic apnea1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
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: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:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
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:0002871Central apnea1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0002104HP:0010535Sleep apnea1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
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:0002871Central apnea1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0002104HP:0010535Sleep apnea1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
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 H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002104HP:0010535Sleep apnea1POGZ CL E G H2312618801OMIM:616364White-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:0002872Apneic episodes precipitated by illness, fatigue, stress1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
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, 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 apnea1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0002104HP:0002882Sudden episodic apnea1SLC25A20 CL E G