Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
..Starting node
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Sleep disturbance (HP:0002360)help
Term ID: 2360
Name: Sleep disturbance
Synonym: Difficulty sleeping; Sleep disturbances; Sleep dysfunction; Trouble sleeping
Definition: An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Comments:
Reference: HP:0002360
Genes and Diseases:
 
       Child Nodes:
........expandExcessive daytime somnolence (HP:0001262) help
........expandExcessive daytime sleepiness (HP:0002189) help
........expandAbnormal rapid eye movement sleep (HP:0002494) help
........expandBruxism (HP:0003763) help
........expandSleep-wake cycle disturbance (HP:0006979) help
................... HP:0031849 Sleep-wake inversion
................... HP:0031873 Early chronotype
................... HP:0031874 Late chronotype
........expandSleep apnea (HP:0010535) help
................... HP:0002870 Obstructive sleep apnea
................... HP:0010536 Central sleep apnea
........expandRestless legs (HP:0012452) help
........expandSleep paralysis (HP:0025233) help
........expandParasomnia (HP:0025234) help
................... HP:0025235 Non-rapid eye movement parasomnia
........expandSnoring (HP:0025267) help
................... HP:0025372 Loud snoring
........expandNarcolepsy (HP:0030050) help
........expandInsomnia (HP:0100785) help
................... HP:0031354 Sleep onset Insomnia
................... HP:0031355 Maintenance insomnia
................... HP:0031356 Terminal insomnia
........expandHypersomnia (HP:0100786) help
................... HP:0007200 Episodic hypersomnia

 Sister Nodes: 
..expandAbnormal consumption behavior (HP:0040202) help
..expandAbnormal emotion/affect behavior (HP:0100851) help
..expandAbnormal social behavior (HP:0012433) help
..expandAbnormal temper tantrums (HP:0025160) help
..expandAddictive behavior (HP:0030858) help
..expandAutistic behavior (HP:0000729) help
..expandDelusions (HP:0000746) help
..expandDrooling (HP:0002307) help
..expandEcholalia (HP:0010529) help
..expandHallucinations (HP:0000738) help
..expandHyperorality (HP:0000710) help
..expandImpairment in personality functioning (HP:0031466) help
..expandInflexible adherence to routines or rituals (HP:0000732) help
..expandLack of insight (HP:0000757) help
..expandLack of spontaneous play (HP:0000721) help
..expandLow frustration tolerance (HP:0000744) help
..expandMania (HP:0100754) help
..expandMutism (HP:0002300) help
..expandObsessive-compulsive behavior (HP:0000722) help
..expandobsolete Psychomotor retardation (HP:0025356) help
..expandOppositional defiant disorder (HP:0010865) help
..expandPerseveration (HP:0030223) help
..expandPersonality changes (HP:0000751) help
..expandPhotophobia (HP:0000613) help
..expandPseudobulbar behavioral symptoms (HP:0002193) help
..expandPsychosis (HP:0000709) help
..expandRestlessness (HP:0000711) help
..expandSchizophrenia (HP:0100753) help
..expandSelf-neglect (HP:0025479) help
..expandShort attention span (HP:0000736) help
..expandSound sensitivity (HP:0025112) 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:0002360HP:0002360Sleep disturbance0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0002360HP:0002360Sleep disturbance0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0002360HP:0002360Sleep disturbance0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002360HP:0002360Sleep disturbance0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0002360HP:0002360Sleep disturbance0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0002360HP:0002360Sleep disturbance0ADGRL1 CL E G H2285920973OMIM:620065
HP:0002360HP:0002360Sleep disturbance0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002360HP:0002360Sleep disturbance0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0002360HP:0002360Sleep disturbance0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002360HP:0002360Sleep disturbance0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0002360HP:0002360Sleep disturbance0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0002360HP:0002360Sleep disturbance0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002360HP:0002360Sleep disturbance0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002360HP:0002360Sleep disturbance0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002360HP:0002360Sleep disturbance0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040283 - Occasional60
HP:0002360HP:0002360Sleep disturbance0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002360HP:0002360Sleep disturbance0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0002360HP:0002360Sleep disturbance0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040282 - Frequent74
HP:0002360HP:0002360Sleep disturbance0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0002360HP:0002360Sleep disturbance0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040284 - Very rare404
HP:0002360HP:0002360Sleep disturbance0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0002360HP:0002360Sleep disturbance0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37.176
HP:0002360HP:0002360Sleep disturbance0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002360HP:0002360Sleep disturbance0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0002360HP:0002360Sleep disturbance0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0002360HP:0002360Sleep disturbance0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002360HP:0002360Sleep disturbance0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002360HP:0002360Sleep disturbance0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent166
HP:0002360HP:0002360Sleep disturbance0ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0002360HP:0002360Sleep disturbance0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002360HP:0002360Sleep disturbance0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0002360HP:0002360Sleep disturbance0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002360HP:0002360Sleep disturbance0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0002360HP:0002360Sleep disturbance0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040282 - Frequent
HP:0002360HP:0002360Sleep disturbance0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0002360HP:0002360Sleep disturbance0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0002360HP:0002360Sleep disturbance0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0002360HP:0002360Sleep disturbance0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002360HP:0002360Sleep disturbance0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002360HP:0002360Sleep disturbance0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0002360HP:0002360Sleep disturbance0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0002360HP:0002360Sleep disturbance0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002360HP:0002360Sleep disturbance0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040283 - Occasional14
HP:0002360HP:0002360Sleep disturbance0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040283 - Occasional14
HP:0002360HP:0002360Sleep disturbance0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040283 - Occasional14
HP:0002360HP:0002360Sleep disturbance0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 78
HP:0002360HP:0002360Sleep disturbance0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002360HP:0002360Sleep disturbance0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0002360HP:0002360Sleep disturbance0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002360HP:0002360Sleep disturbance0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002360HP:0002360Sleep disturbance0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002360HP:0002360Sleep disturbance0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0002360HP:0002360Sleep disturbance0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0002360HP:0002360Sleep disturbance0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0002360HP:0002360Sleep disturbance0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0002360HP:0002360Sleep disturbance0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002360HP:0002360Sleep disturbance0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0002360HP:0002360Sleep disturbance0CACNA1C CL E G H7751390OMIM:620029572
HP:0002360HP:0002360Sleep disturbance0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002360HP:0002360Sleep disturbance0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002360HP:0002360Sleep disturbance0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002360HP:0002360Sleep disturbance0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent118
HP:0002360HP:0002360Sleep disturbance0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002360HP:0002360Sleep disturbance0CDC42BPB CL E G H95781738OMIM:619841
HP:0002360HP:0002360Sleep disturbance0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002360HP:0002360Sleep disturbance0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0002360HP:0002360Sleep disturbance0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0002360HP:0002360Sleep disturbance0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent405
HP:0002360HP:0002360Sleep disturbance0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0002360HP:0002360Sleep disturbance0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0002360HP:0002360Sleep disturbance0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0002360HP:0002360Sleep disturbance0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0002360HP:0002360Sleep disturbance0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002360HP:0002360Sleep disturbance0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002360HP:0002360Sleep disturbance0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002360HP:0002360Sleep disturbance0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002360HP:0002360Sleep disturbance0CHKA CL E G H11191937OMIM:620023
HP:0002360HP:0002360Sleep disturbance0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0002360HP:0002360Sleep disturbance0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0002360HP:0002360Sleep disturbance0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0002360HP:0002360Sleep disturbance0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0002360HP:0002360Sleep disturbance0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002360HP:0002360Sleep disturbance0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0002360HP:0002360Sleep disturbance0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002360HP:0002360Sleep disturbance0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002360HP:0002360Sleep disturbance0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0002360HP:0002360Sleep disturbance0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002360HP:0002360Sleep disturbance0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002360HP:0002360Sleep disturbance0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0002360HP:0002360Sleep disturbance0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0002360HP:0002360Sleep disturbance0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002360HP:0002360Sleep disturbance0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002360HP:0002360Sleep disturbance0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0002360HP:0002360Sleep disturbance0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0002360HP:0002360Sleep disturbance0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002360HP:0002360Sleep disturbance0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0002360HP:0002360Sleep disturbance0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0002360HP:0002360Sleep disturbance0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0002360HP:0002360Sleep disturbance0CRY1 CL E G H14072384OMIM:614163Delayed sleep phase disorder, susceptibility to1
HP:0002360HP:0002360Sleep disturbance0CSNK1D CL E G H14532452OMIM:615224Advanced sleep phase syndrome, familial, 22
HP:0002360HP:0002360Sleep disturbance0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0002360HP:0002360Sleep disturbance0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0002360HP:0002360Sleep disturbance0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0002360HP:0002360Sleep disturbance0CTSH CL E G H15122535ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent1
HP:0002360HP:0002360Sleep disturbance0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0002360HP:0002360Sleep disturbance0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040282 - Frequent80
HP:0002360HP:0002360Sleep disturbance0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0002360HP:0002360Sleep disturbance0DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0002360HP:0002360Sleep disturbance0DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0002360HP:0002360Sleep disturbance0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0002360HP:0002360Sleep disturbance0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002360HP:0002360Sleep disturbance0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0002360HP:0002360Sleep disturbance0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0002360HP:0002360Sleep disturbance0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0002360HP:0002360Sleep disturbance0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0002360HP:0002360Sleep disturbance0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002360HP:0002360Sleep disturbance0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0002360HP:0002360Sleep disturbance0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0002360HP:0002360Sleep disturbance0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0002360HP:0002360Sleep disturbance0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0002360HP:0002360Sleep disturbance0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0002360HP:0002360Sleep disturbance0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0002360HP:0002360Sleep disturbance0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0002360HP:0002360Sleep disturbance0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0002360HP:0002360Sleep disturbance0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0002360HP:0002360Sleep disturbance0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0002360HP:0002360Sleep disturbance0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002360HP:0002360Sleep disturbance0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002360HP:0002360Sleep disturbance0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0002360HP:0002360Sleep disturbance0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent3
HP:0002360HP:0002360Sleep disturbance0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0002360HP:0002360Sleep disturbance0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0002360HP:0002360Sleep disturbance0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002360HP:0002360Sleep disturbance0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0002360HP:0002360Sleep disturbance0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0002360HP:0002360Sleep disturbance0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant145
HP:0002360HP:0002360Sleep disturbance0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE145
HP:0002360HP:0002360Sleep disturbance0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0002360HP:0002360Sleep disturbance0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0002360HP:0002360Sleep disturbance0DPH5 CL E G H5161124270OMIM:620070
HP:0002360HP:0002360Sleep disturbance0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria44
HP:0002360HP:0002360Sleep disturbance0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0002360HP:0002360Sleep disturbance0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0002360HP:0002360Sleep disturbance0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0002360HP:0002360Sleep disturbance0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0002360HP:0002360Sleep disturbance0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002360HP:0002360Sleep disturbance0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0002360HP:0002360Sleep disturbance0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0002360HP:0002360Sleep disturbance0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002360HP:0002360Sleep disturbance0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0002360HP:0002360Sleep disturbance0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0002360HP:0002360Sleep disturbance0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0002360HP:0002360Sleep disturbance0EML1 CL E G H20093330OMIM:600348Band heterotopia.3
HP:0002360HP:0002360Sleep disturbance0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002360HP:0002360Sleep disturbance0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0002360HP:0002360Sleep disturbance0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0002360HP:0002360Sleep disturbance0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040283 - Occasional83
HP:0002360HP:0002360Sleep disturbance0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0002360HP:0002360Sleep disturbance0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0002360HP:0002360Sleep disturbance0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0002360HP:0002360Sleep disturbance0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0002360HP:0002360Sleep disturbance0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002360HP:0002360Sleep disturbance0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0002360HP:0002360Sleep disturbance0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0002360HP:0002360Sleep disturbance0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0002360HP:0002360Sleep disturbance0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002360HP:0002360Sleep disturbance0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0002360HP:0002360Sleep disturbance0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0002360HP:0002360Sleep disturbance0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0002360HP:0002360Sleep disturbance0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0002360HP:0002360Sleep disturbance0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0002360HP:0002360Sleep disturbance0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0002360HP:0002360Sleep disturbance0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0002360HP:0002360Sleep disturbance0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0002360HP:0002360Sleep disturbance0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0002360HP:0002360Sleep disturbance0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0002360HP:0002360Sleep disturbance0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0002360HP:0002360Sleep disturbance0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0002360HP:0002360Sleep disturbance0FGFR3 CL E G H22613690ORPHA:429Hypochondroplasia145
HP:0002360HP:0002360Sleep disturbance0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0002360HP:0002360Sleep disturbance0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0002360HP:0002360Sleep disturbance0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0002360HP:0002360Sleep disturbance0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0002360HP:0002360Sleep disturbance0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0002360HP:0002360Sleep disturbance0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0002360HP:0002360Sleep disturbance0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0002360HP:0002360Sleep disturbance0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0002360HP:0002360Sleep disturbance0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0002360HP:0002360Sleep disturbance0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0002360HP:0002360Sleep disturbance0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0002360HP:0002360Sleep disturbance0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0002360HP:0002360Sleep disturbance0FTL CL E G H25123999OMIM:615604L-ferritin deficiency, dominant and recessive33
HP:0002360HP:0002360Sleep disturbance0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002360HP:0002360Sleep disturbance0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002360HP:0002360Sleep disturbance0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0002360HP:0002360Sleep disturbance0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0002360HP:0002360Sleep disturbance0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0002360HP:0002360Sleep disturbance0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0002360HP:0002360Sleep disturbance0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0002360HP:0002360Sleep disturbance0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002360HP:0002360Sleep disturbance0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0002360HP:0002360Sleep disturbance0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0002360HP:0002360Sleep disturbance0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0002360HP:0002360Sleep disturbance0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0002360HP:0002360Sleep disturbance0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0002360HP:0002360Sleep disturbance0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002360HP:0002360Sleep disturbance0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002360HP:0002360Sleep disturbance0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002360HP:0002360Sleep disturbance0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002360HP:0002360Sleep disturbance0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0002360HP:0002360Sleep disturbance0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0002360HP:0002360Sleep disturbance0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0002360HP:0002360Sleep disturbance0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0002360HP:0002360Sleep disturbance0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0002360HP:0002360Sleep disturbance0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040282 - Frequent63
HP:0002360HP:0002360Sleep disturbance0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040282 - Frequent46
HP:0002360HP:0002360Sleep disturbance0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002360HP:0002360Sleep disturbance0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0002360HP:0002360Sleep disturbance0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0002360HP:0002360Sleep disturbance0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent36
HP:0002360HP:0002360Sleep disturbance0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0002360HP:0002360Sleep disturbance0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0002360HP:0002360Sleep disturbance0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0002360HP:0002360Sleep disturbance0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0002360HP:0002360Sleep disturbance0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040282 - Frequent18
HP:0002360HP:0002360Sleep disturbance0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002360HP:0002360Sleep disturbance0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0002360HP:0002360Sleep disturbance0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0002360HP:0002360Sleep disturbance0GRIA1 CL E G H28904571OMIM:6199313
HP:0002360HP:0002360Sleep disturbance0GRIA1 CL E G H28904571OMIM:6199273
HP:0002360HP:0002360Sleep disturbance0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0002360HP:0002360Sleep disturbance0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0002360HP:0002360Sleep disturbance0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent108
HP:0002360HP:0002360Sleep disturbance0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0002360HP:0002360Sleep disturbance0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0002360HP:0002360Sleep disturbance0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent5
HP:0002360HP:0002360Sleep disturbance0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0002360HP:0002360Sleep disturbance0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0002360HP:0002360Sleep disturbance0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0002360HP:0002360Sleep disturbance0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0002360HP:0002360Sleep disturbance0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0002360HP:0002360Sleep disturbance0H4C5 CL E G H83674790OMIM:619950
HP:0002360HP:0002360Sleep disturbance0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002360HP:0002360Sleep disturbance0HCRT CL E G H30604847OMIM:161400Narcolepsy 11
HP:0002360HP:0002360Sleep disturbance0HCRT CL E G H30604847ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent1
HP:0002360HP:0002360Sleep disturbance0HCRT CL E G H30604847ORPHA:83465Narcolepsy type 2HP:0040281 - Very frequent1
HP:0002360HP:0002360Sleep disturbance0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0002360HP:0002360Sleep disturbance0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002360HP:0002360Sleep disturbance0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0002360HP:0002360Sleep disturbance0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0002360HP:0002360Sleep disturbance0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0002360HP:0002360Sleep disturbance0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0002360HP:0002360Sleep disturbance0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0002360HP:0002360Sleep disturbance0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002360HP:0002360Sleep disturbance0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0002360HP:0002360Sleep disturbance0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0002360HP:0002360Sleep disturbance0HLA-DQB1 CL E G H31194944ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent
HP:0002360HP:0002360Sleep disturbance0HLA-DQB1 CL E G H31194944ORPHA:83465Narcolepsy type 2HP:0040281 - Very frequent
HP:0002360HP:0002360Sleep disturbance0HLA-DRB1 CL E G H31234948ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent2
HP:0002360HP:0002360Sleep disturbance0HLA-DRB1 CL E G H31234948ORPHA:83465Narcolepsy type 2HP:0040281 - Very frequent2
HP:0002360HP:0002360Sleep disturbance0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0002360HP:0002360Sleep disturbance0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0002360HP:0002360Sleep disturbance0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0002360HP:0002360Sleep disturbance0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0002360HP:0002360Sleep disturbance0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0002360HP:0002360Sleep disturbance0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0002360HP:0002360Sleep disturbance0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0002360HP:0002360Sleep disturbance0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0002360HP:0002360Sleep disturbance0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002360HP:0002360Sleep disturbance0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0002360HP:0002360Sleep disturbance0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0002360HP:0002360Sleep disturbance0IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0002360HP:0002360Sleep disturbance0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0002360HP:0002360Sleep disturbance0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional46
HP:0002360HP:0002360Sleep disturbance0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0002360HP:0002360Sleep disturbance0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional4
HP:0002360HP:0002360Sleep disturbance0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0002360HP:0002360Sleep disturbance0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0002360HP:0002360Sleep disturbance0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002360HP:0002360Sleep disturbance0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent145
HP:0002360HP:0002360Sleep disturbance0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0002360HP:0002360Sleep disturbance0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0002360HP:0002360Sleep disturbance0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0002360HP:0002360Sleep disturbance0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0002360HP:0002360Sleep disturbance0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0002360HP:0002360Sleep disturbance0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0002360HP:0002360Sleep disturbance0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0002360HP:0002360Sleep disturbance0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0002360HP:0002360Sleep disturbance0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0002360HP:0002360Sleep disturbance0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002360HP:0002360Sleep disturbance0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002360HP:0002360Sleep disturbance0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0002360HP:0002360Sleep disturbance0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0002360HP:0002360Sleep disturbance0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0002360HP:0002360Sleep disturbance0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0002360HP:0002360Sleep disturbance0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002360HP:0002360Sleep disturbance0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0002360HP:0002360Sleep disturbance0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002360HP:0002360Sleep disturbance0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0002360HP:0002360Sleep disturbance0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002360HP:0002360Sleep disturbance0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0002360HP:0002360Sleep disturbance0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040281 - Very frequent950
HP:0002360HP:0002360Sleep disturbance0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002360HP:0002360Sleep disturbance0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002360HP:0002360Sleep disturbance0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002360HP:0002360Sleep disturbance0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0002360HP:0002360Sleep disturbance0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0002360HP:0002360Sleep disturbance0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0002360HP:0002360Sleep disturbance0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0002360HP:0002360Sleep disturbance0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0002360HP:0002360Sleep disturbance0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0002360HP:0002360Sleep disturbance0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0002360HP:0002360Sleep disturbance0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0MOG CL E G H43407197OMIM:614250Narcolepsy 71
HP:0002360HP:0002360Sleep disturbance0MOG CL E G H43407197ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent1
HP:0002360HP:0002360Sleep disturbance0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002360HP:0002360Sleep disturbance0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblE88
HP:0002360HP:0002360Sleep disturbance0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequence72
HP:0002360HP:0002360Sleep disturbance0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0002360HP:0002360Sleep disturbance0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0002360HP:0002360Sleep disturbance0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequence
HP:0002360HP:0002360Sleep disturbance0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0002360HP:0002360Sleep disturbance0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0002360HP:0002360Sleep disturbance0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002360HP:0002360Sleep disturbance0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0002360HP:0002360Sleep disturbance0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0002360HP:0002360Sleep disturbance0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0002360HP:0002360Sleep disturbance0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0002360HP:0002360Sleep disturbance0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0002360HP:0002360Sleep disturbance0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0002360HP:0002360Sleep disturbance0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0002360HP:0002360Sleep disturbance0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 46.27
HP:0002360HP:0002360Sleep disturbance0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0002360HP:0002360Sleep disturbance0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0002360HP:0002360Sleep disturbance0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent
HP:0002360HP:0002360Sleep disturbance0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0002360HP:0002360Sleep disturbance0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0002360HP:0002360Sleep disturbance0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002360HP:0002360Sleep disturbance0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002360HP:0002360Sleep disturbance0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002360HP:0002360Sleep disturbance0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040283 - Occasional77
HP:0002360HP:0002360Sleep disturbance0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0002360HP:0002360Sleep disturbance0NKX2-1 CL E G H708011825ORPHA:95713Athyreosis51
HP:0002360HP:0002360Sleep disturbance0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0002360HP:0002360Sleep disturbance0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distressHP:0040283 - Occasional51
HP:0002360HP:0002360Sleep disturbance0NKX2-5 CL E G H14822488ORPHA:95713Athyreosis90
HP:0002360HP:0002360Sleep disturbance0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopia90
HP:0002360HP:0002360Sleep disturbance0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0002360HP:0002360Sleep disturbance0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0002360HP:0002360Sleep disturbance0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0002360HP:0002360Sleep disturbance0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0002360HP:0002360Sleep disturbance0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002360HP:0002360Sleep disturbance0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0002360HP:0002360Sleep disturbance0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0002360HP:0002360Sleep disturbance0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002360HP:0002360Sleep disturbance0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002360HP:0002360Sleep disturbance0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0002360HP:0002360Sleep disturbance0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0002360HP:0002360Sleep disturbance0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0002360HP:0002360Sleep disturbance0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequence
HP:0002360HP:0002360Sleep disturbance0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0002360HP:0002360Sleep disturbance0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0002360HP:0002360Sleep disturbance0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0002360HP:0002360Sleep disturbance0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0002360HP:0002360Sleep disturbance0P2RY11 CL E G H50328540ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent2
HP:0002360HP:0002360Sleep disturbance0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002360HP:0002360Sleep disturbance0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0002360HP:0002360Sleep disturbance0PAX8 CL E G H78498622ORPHA:95713Athyreosis63
HP:0002360HP:0002360Sleep disturbance0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopia63
HP:0002360HP:0002360Sleep disturbance0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0002360HP:0002360Sleep disturbance0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002360HP:0002360Sleep disturbance0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0002360HP:0002360Sleep disturbance0PER2 CL E G H88648846OMIM:604348Advanced sleep phase syndrome, familial, 12
HP:0002360HP:0002360Sleep disturbance0PER3 CL E G H88638847OMIM:616882Advanced sleep phase syndrome, familial, 33
HP:0002360HP:0002360Sleep disturbance0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0002360HP:0002360Sleep disturbance0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0002360HP:0002360Sleep disturbance0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0002360HP:0002360Sleep disturbance0PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0002360HP:0002360Sleep disturbance0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002360HP:0002360Sleep disturbance0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent2
HP:0002360HP:0002360Sleep disturbance0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent3
HP:0002360HP:0002360Sleep disturbance0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0002360HP:0002360Sleep disturbance0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0002360HP:0002360Sleep disturbance0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0002360HP:0002360Sleep disturbance0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0002360HP:0002360Sleep disturbance0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0002360HP:0002360Sleep disturbance0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0002360HP:0002360Sleep disturbance0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent244
HP:0002360HP:0002360Sleep disturbance0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0002360HP:0002360Sleep disturbance0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0002360HP:0002360Sleep disturbance0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0002360HP:0002360Sleep disturbance0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002360HP:0002360Sleep disturbance0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0002360HP:0002360Sleep disturbance0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0002360HP:0002360Sleep disturbance0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002360HP:0002360Sleep disturbance0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0002360HP:0002360Sleep disturbance0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0002360HP:0002360Sleep disturbance0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0002360HP:0002360Sleep disturbance0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0002360HP:0002360Sleep disturbance0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion diseaseHP:0040281 - Very frequent69
HP:0002360HP:0002360Sleep disturbance0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0002360HP:0002360Sleep disturbance0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0002360HP:0002360Sleep disturbance0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002360HP:0002360Sleep disturbance0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0002360HP:0002360Sleep disturbance0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0002360HP:0002360Sleep disturbance0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 549
HP:0002360HP:0002360Sleep disturbance0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0002360HP:0002360Sleep disturbance0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0002360HP:0002360Sleep disturbance0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0002360HP:0002360Sleep disturbance0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0002360HP:0002360Sleep disturbance0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0002360HP:0002360Sleep disturbance0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0002360HP:0002360Sleep disturbance0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0002360HP:0002360Sleep disturbance0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0002360HP:0002360Sleep disturbance0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0002360HP:0002360Sleep disturbance0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040283 - Occasional71
HP:0002360HP:0002360Sleep disturbance0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002360HP:0002360Sleep disturbance0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0002360HP:0002360Sleep disturbance0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0002360HP:0002360Sleep disturbance0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0002360HP:0002360Sleep disturbance0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0002360HP:0002360Sleep disturbance0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0002360HP:0002360Sleep disturbance0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequence73
HP:0002360HP:0002360Sleep disturbance0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002360HP:0002360Sleep disturbance0RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0002360HP:0002360Sleep disturbance0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0002360HP:0002360Sleep disturbance0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0002360HP:0002360Sleep disturbance0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002360HP:0002360Sleep disturbance0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0002360HP:0002360Sleep disturbance0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0002360HP:0002360Sleep disturbance0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0002360HP:0002360Sleep disturbance0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0002360HP:0002360Sleep disturbance0SATB1 CL E G H630410541OMIM:619228DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0002360HP:0002360Sleep disturbance0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002360HP:0002360Sleep disturbance0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0002360HP:0002360Sleep disturbance0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0002360HP:0002360Sleep disturbance0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0002360HP:0002360Sleep disturbance0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0002360HP:0002360Sleep disturbance0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent126
HP:0002360HP:0002360Sleep disturbance0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent427
HP:0002360HP:0002360Sleep disturbance0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0002360HP:0002360Sleep disturbance0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0002360HP:0002360Sleep disturbance0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002360HP:0002360Sleep disturbance0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0002360HP:0002360Sleep disturbance0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0002360HP:0002360Sleep disturbance0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0002360HP:0002360Sleep disturbance0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0002360HP:0002360Sleep disturbance0SH3BP2 CL E G H645210825ORPHA:184Cherubism177
HP:0002360HP:0002360Sleep disturbance0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0002360HP:0002360Sleep disturbance0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002360HP:0002360Sleep disturbance0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0002360HP:0002360Sleep disturbance0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0002360HP:0002360Sleep disturbance0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0002360HP:0002360Sleep disturbance0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0002360HP:0002360Sleep disturbance0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent11
HP:0002360HP:0002360Sleep disturbance0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0002360HP:0002360Sleep disturbance0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0002360HP:0002360Sleep disturbance0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0002360HP:0002360Sleep disturbance0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0002360HP:0002360Sleep disturbance0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0002360HP:0002360Sleep disturbance0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0002360HP:0002360Sleep disturbance0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequence2
HP:0002360HP:0002360Sleep disturbance0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002360HP:0002360Sleep disturbance0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0002360HP:0002360Sleep disturbance0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0002360HP:0002360Sleep disturbance0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0002360HP:0002360Sleep disturbance0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent166
HP:0002360HP:0002360Sleep disturbance0SLC26A4 CL E G H51728818ORPHA:95713Athyreosis274
HP:0002360HP:0002360Sleep disturbance0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0002360HP:0002360Sleep disturbance0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0002360HP:0002360Sleep disturbance0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0002360HP:0002360Sleep disturbance0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0002360HP:0002360Sleep disturbance0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0002360HP:0002360Sleep disturbance0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040282 - Frequent81
HP:0002360HP:0002360Sleep disturbance0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0002360HP:0002360Sleep disturbance0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0002360HP:0002360Sleep disturbance0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0002360HP:0002360Sleep disturbance0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0002360HP:0002360Sleep disturbance0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0002360HP:0002360Sleep disturbance0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0002360HP:0002360Sleep disturbance0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0002360HP:0002360Sleep disturbance0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0002360HP:0002360Sleep disturbance0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0002360HP:0002360Sleep disturbance0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0002360HP:0002360Sleep disturbance0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0002360HP:0002360Sleep disturbance0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002360HP:0002360Sleep disturbance0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002360HP:0002360Sleep disturbance0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0002360HP:0002360Sleep disturbance0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0002360HP:0002360Sleep disturbance0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0002360HP:0002360Sleep disturbance0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002360HP:0002360Sleep disturbance0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0002360HP:0002360Sleep disturbance0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0002360HP:0002360Sleep disturbance0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0002360HP:0002360Sleep disturbance0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0002360HP:0002360Sleep disturbance0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0002360HP:0002360Sleep disturbance0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0002360HP:0002360Sleep disturbance0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0002360HP:0002360Sleep disturbance0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0002360HP:0002360Sleep disturbance0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0002360HP:0002360Sleep disturbance0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0002360HP:0002360Sleep disturbance0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002360HP:0002360Sleep disturbance0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0002360HP:0002360Sleep disturbance0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0002360HP:0002360Sleep disturbance0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002360HP:0002360Sleep disturbance0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsy50
HP:0002360HP:0002360Sleep disturbance0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0002360HP:0002360Sleep disturbance0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0002360HP:0002360Sleep disturbance0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0002360HP:0002360Sleep disturbance0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0002360HP:0002360Sleep disturbance0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0002360HP:0002360Sleep disturbance0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0002360HP:0002360Sleep disturbance0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002360HP:0002360Sleep disturbance0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0002360HP:0002360Sleep disturbance0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002360HP:0002360Sleep disturbance0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0002360HP:0002360Sleep disturbance0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0002360HP:0002360Sleep disturbance0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0002360HP:0002360Sleep disturbance0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0002360HP:0002360Sleep disturbance0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002360HP:0002360Sleep disturbance0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0002360HP:0002360Sleep disturbance0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0002360HP:0002360Sleep disturbance0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystonia271
HP:0002360HP:0002360Sleep disturbance0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitis20
HP:0002360HP:0002360Sleep disturbance0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002360HP:0002360Sleep disturbance0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0002360HP:0002360Sleep disturbance0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0002360HP:0002360Sleep disturbance0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0002360HP:0002360Sleep disturbance0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 233
HP:0002360HP:0002360Sleep disturbance0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0002360HP:0002360Sleep disturbance0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0002360HP:0002360Sleep disturbance0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0002360HP:0002360Sleep disturbance0TFAP2B CL E G H702111743OMIM:169100Char syndrome104
HP:0002360HP:0002360Sleep disturbance0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0002360HP:0002360Sleep disturbance0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002360HP:0002360Sleep disturbance0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0002360HP:0002360Sleep disturbance0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitis6
HP:0002360HP:0002360Sleep disturbance0TIMELESS CL E G H891411813OMIM:620015
HP:0002360HP:0002360Sleep disturbance0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitis3
HP:0002360HP:0002360Sleep disturbance0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0002360HP:0002360Sleep disturbance0TNFSF4 CL E G H729211934ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent
HP:0002360HP:0002360Sleep disturbance0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional71
HP:0002360HP:0002360Sleep disturbance0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002360HP:0002360Sleep disturbance0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0002360HP:0002360Sleep disturbance0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0002360HP:0002360Sleep disturbance0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitis2
HP:0002360HP:0002360Sleep disturbance0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0002360HP:0002360Sleep disturbance0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040282 - Frequent1
HP:0002360HP:0002360Sleep disturbance0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0002360HP:0002360Sleep disturbance0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002360HP:0002360Sleep disturbance0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0002360HP:0002360Sleep disturbance0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0002360HP:0002360Sleep disturbance0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0002360HP:0002360Sleep disturbance0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0002360HP:0002360Sleep disturbance0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0002360HP:0002360Sleep disturbance0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0002360HP:0002360Sleep disturbance0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0002360HP:0002360Sleep disturbance0TSHR CL E G H725312373ORPHA:95713Athyreosis97
HP:0002360HP:0002360Sleep disturbance0TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidismHP:0040282 - Frequent97
HP:0002360HP:0002360Sleep disturbance0TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptorHP:0040282 - Frequent97
HP:0002360HP:0002360Sleep disturbance0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome1
HP:0002360HP:0002360Sleep disturbance0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002360HP:0002360Sleep disturbance0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0002360HP:0002360Sleep disturbance0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0002360HP:0002360Sleep disturbance0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequence106
HP:0002360HP:0002360Sleep disturbance0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0002360HP:0002360Sleep disturbance0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0002360HP:0002360Sleep disturbance0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002360HP:0002360Sleep disturbance0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0002360HP:0002360Sleep disturbance0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0002360HP:0002360Sleep disturbance0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0002360HP:0002360Sleep disturbance0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0002360HP:0002360Sleep disturbance0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitis5
HP:0002360HP:0002360Sleep disturbance0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002360HP:0002360Sleep disturbance0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0002360HP:0002360Sleep disturbance0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0002360HP:0002360Sleep disturbance0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040284 - Very rare130
HP:0002360HP:0002360Sleep disturbance0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0002360HP:0002360Sleep disturbance0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0002360HP:0002360Sleep disturbance0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0002360HP:0002360Sleep disturbance0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0002360HP:0002360Sleep disturbance0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002360HP:0002360Sleep disturbance0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002360HP:0002360Sleep disturbance0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0002360HP:0002360Sleep disturbance0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0002360HP:0002360Sleep disturbance0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20
HP:0002360HP:0002360Sleep disturbance0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0002360HP:0002360Sleep disturbance0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002360HP:0002360Sleep disturbance0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0002360HP:0002360Sleep disturbance0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002360HP:0002360Sleep disturbance0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0002360HP:0002360Sleep disturbance0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0002360HP:0002360Sleep disturbance0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002360HP:0002360Sleep disturbance0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0002360HP:0002360Sleep disturbance0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0002360HP:0002360Sleep disturbance0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0002360HP:0002360Sleep disturbance0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0002360HP:0002360Sleep disturbance0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0002360HP:0002360Sleep disturbance0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0002360HP:0002360Sleep disturbance0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002360HP:0002360Sleep disturbance0ZNF365 CL E G H2289118194ORPHA:2073Narcolepsy type 1HP:0040281 - Very frequent3
HP:0002360HP:0002360Sleep disturbance0ZNF365 CL E G H2289118194ORPHA:83465Narcolepsy type 2HP:0040281 - Very frequent3
HP:0002360HP:0033063Shortened sleep cycle1 CL E G H
HP:0002360HP:0100785Insomnia1ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040282 - Frequent146
HP:0002360HP:0100785Insomnia1ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040282 - Frequent111
HP:0002360HP:0010535Sleep apnea1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0002360HP:0001262Excessive daytime somnolence1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0002360HP:0010535Sleep apnea1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002360HP:0010535Sleep apnea1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0002360HP:0010535Sleep apnea1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0002360HP:0025267Snoring1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0002360HP:0010535Sleep apnea1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002360HP:0025267Snoring1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0002360HP:0010535Sleep apnea1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002360HP:0100786Hypersomnia1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0002360HP:0010535Sleep apnea1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0002360HP:0001262Excessive daytime somnolence1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0002360HP:0006979Sleep-wake cycle disturbance1APOE CL E G H348613OMIM:606889Alzheimer disease 4.39
HP:0002360HP:0010535Sleep apnea1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0002360HP:0010535Sleep apnea1ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0002360HP:0010535Sleep apnea1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002360HP:0010535Sleep apnea1ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0002360HP:0001262Excessive daytime somnolence1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0002360HP:0010535Sleep apnea1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0002360HP:0010535Sleep apnea1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0002360HP:0006979Sleep-wake cycle disturbance1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0002360HP:0010535Sleep apnea1ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002360HP:0100785Insomnia1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002360HP:0100785Insomnia1ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040282 - Frequent144
HP:0002360HP:0012452Restless legs1ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0002360HP:0001262Excessive daytime somnolence1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0002360HP:0100785Insomnia1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002360HP:0100785Insomnia1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002360HP:0010535Sleep apnea1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0002360HP:0010535Sleep apnea1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0002360HP:0001262Excessive daytime somnolence1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0002360HP:0010535Sleep apnea1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0002360HP:0100785Insomnia1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002360HP:0010535Sleep apnea1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0002360HP:0010535Sleep apnea1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002360HP:0025234Parasomnia1CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0002360HP:0010535Sleep apnea1CACNA1C CL E G H7751390OMIM:620029572
HP:0002360HP:0006979Sleep-wake cycle disturbance1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002360HP:0010535Sleep apnea1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0002360HP:0010535Sleep apnea1CDC42BPB CL E G H95781738OMIM:619841
HP:0002360HP:0010535Sleep apnea1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002360HP:0006979Sleep-wake cycle disturbance1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0002360HP:0006979Sleep-wake cycle disturbance1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002360HP:0006979Sleep-wake cycle disturbance1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0002360HP:0006979Sleep-wake cycle disturbance1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002360HP:0006979Sleep-wake cycle disturbance1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002360HP:0010535Sleep apnea1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002360HP:0010535Sleep apnea1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002360HP:0010535Sleep apnea1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0002360HP:0006979Sleep-wake cycle disturbance1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002360HP:0025234Parasomnia1CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0002360HP:0025234Parasomnia1CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0002360HP:0025234Parasomnia1CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0002360HP:0001262Excessive daytime somnolence1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002360HP:0100785Insomnia1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002360HP:0100785Insomnia1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002360HP:0001262Excessive daytime somnolence1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0002360HP:0010535Sleep apnea1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0002360HP:0010535Sleep apnea1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0002360HP:0010535Sleep apnea1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0002360HP:0002494Abnormal rapid eye movement sleep1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type