以 HPO 交叉檢視

HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。

搜尋 HPO

Dysphagia

HP:0002015

對應病歷用詞(0)

尚無對應用詞。

具此 HPO 的疾病（附加參考）(287)

Plummer-Vinson syndromeORPHA:54028 · Obligate (100%)
9q33.3q34.11 microdeletion syndromeORPHA:495818 · Very frequent (99-80%)
ABeta amyloidosis, Iowa typeORPHA:324708 · Very frequent (99-80%)
Alpha-B crystallin-related late-onset myopathyORPHA:399058 · Very frequent (99-80%)
BotulismORPHA:1267 · Very frequent (99-80%)
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderORPHA:500180 · Very frequent (99-80%)
Congenital myasthenic syndromeORPHA:590 · Very frequent (99-80%)
Developmental malformations-deafness-dystonia syndromeORPHA:79107 · Very frequent (99-80%)
Dihydropteridine reductase deficiencyORPHA:226 · Very frequent (99-80%)
Dystonia-aphonia syndromeORPHA:412217 · Very frequent (99-80%)
Facial onset sensory and motor neuronopathyORPHA:85162 · Very frequent (99-80%)
Foodborne botulismORPHA:228371 · Very frequent (99-80%)
Gaucher disease type 2ORPHA:77260 · Very frequent (99-80%)
German syndromeORPHA:2077 · Very frequent (99-80%)
Iatrogenic botulismORPHA:254509 · Very frequent (99-80%)
Idiopathic achalasiaORPHA:930 · Very frequent (99-80%)
Infant botulismORPHA:178478 · Very frequent (99-80%)
Intestinal botulismORPHA:178481 · Very frequent (99-80%)
Kagami-Ogata syndromeORPHA:254519 · Very frequent (99-80%)
Mitochondrial neurogastrointestinal encephalomyopathyORPHA:298 · Very frequent (99-80%)
Niemann-Pick disease type CORPHA:646 · Very frequent (99-80%)
Oculopharyngeal muscular dystrophyORPHA:270 · Very frequent (99-80%)
Odontomatosis-aortae esophagus stenosis syndromeORPHA:2724 · Very frequent (99-80%)
Prader-Willi syndromeORPHA:739 · Very frequent (99-80%)
Presynaptic congenital myasthenic syndromeORPHA:98914 · Very frequent (99-80%)
Progressive supranuclear palsyORPHA:683 · Very frequent (99-80%)
Spinocerebellar ataxia type 11ORPHA:98767 · Very frequent (99-80%)
Spinocerebellar ataxia type 7ORPHA:94147 · Very frequent (99-80%)
TetanusORPHA:3299 · Very frequent (99-80%)
Toxic epidermal necrolysisORPHA:537 · Very frequent (99-80%)
Wound botulismORPHA:178475 · Very frequent (99-80%)
X-linked Alport syndrome-diffuse leiomyomatosisORPHA:1018 · Very frequent (99-80%)
1p36 deletion syndromeORPHA:1606 · Frequent (79-30%)
4H leukodystrophyORPHA:289494 · Frequent (79-30%)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyORPHA:329336 · Frequent (79-30%)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyORPHA:329314 · Frequent (79-30%)
AGel amyloidosisORPHA:85448 · Frequent (79-30%)
Alexander diseaseORPHA:58 · Frequent (79-30%)
Alexander disease type IIORPHA:363722 · Frequent (79-30%)
Alobar holoprosencephalyORPHA:93925 · Frequent (79-30%)
Alternating hemiplegia of childhoodORPHA:2131 · Frequent (79-30%)
Amyotrophic lateral sclerosisORPHA:803 · Frequent (79-30%)
Anaplastic thyroid carcinomaORPHA:142 · Frequent (79-30%)
Arnold-Chiari malformation type IORPHA:268882 · Frequent (79-30%)
Autosomal dominant spastic ataxia type 1ORPHA:251282 · Frequent (79-30%)
Autosomal dominant striatal neurodegenerationORPHA:228169 · Frequent (79-30%)
Autosomal recessive cerebellar ataxia with late-onset spasticityORPHA:352641 · Frequent (79-30%)
Autosomal recessive cerebellar ataxia-psychomotor delay syndromeORPHA:284271 · Frequent (79-30%)
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formORPHA:89842 · Frequent (79-30%)
Autosomal recessive progressive external ophthalmoplegiaORPHA:254886 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 11ORPHA:2822 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 20ORPHA:101000 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 21ORPHA:101001 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 54ORPHA:320380 · Frequent (79-30%)
Birk-Barel syndromeORPHA:166108 · Frequent (79-30%)
Carney-Stratakis syndromeORPHA:97286 · Frequent (79-30%)
CHARGE syndromeORPHA:138 · Frequent (79-30%)
Christianson syndromeORPHA:85278 · Frequent (79-30%)
Classic pantothenate kinase-associated neurodegenerationORPHA:216866 · Frequent (79-30%)
Congenital fiber-type disproportion myopathyORPHA:2020 · Frequent (79-30%)
Diffuse cutaneous systemic sclerosisORPHA:220393 · Frequent (79-30%)
DNAJB6-related limb-girdle muscular dystrophy D1ORPHA:34516 · Frequent (79-30%)
Dystonia 16ORPHA:210571 · Frequent (79-30%)
Dystonia 28ORPHA:589618 · Frequent (79-30%)
Early infantile developmental and epileptic encephalopathyORPHA:1934 · Frequent (79-30%)
Early-onset cerebellar ataxia with retained tendon reflexesORPHA:1177 · Frequent (79-30%)
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeORPHA:500144 · Frequent (79-30%)
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeORPHA:313772 · Frequent (79-30%)
Ebola hemorrhagic feverORPHA:319218 · Frequent (79-30%)
Emanuel syndromeORPHA:96170 · Frequent (79-30%)
Eosinophilic gastroenteritisORPHA:2070 · Frequent (79-30%)
Eosinophilic granulomatosis with polyangiitisORPHA:183 · Frequent (79-30%)
Esophageal atresiaORPHA:1199 · Frequent (79-30%)
Familial infantile bilateral striatal necrosisORPHA:225154 · Frequent (79-30%)
Fatal familial insomniaORPHA:466 · Frequent (79-30%)
Frontotemporal dementia with motor neuron diseaseORPHA:275872 · Frequent (79-30%)
Gastrointestinal stromal tumorORPHA:44890 · Frequent (79-30%)
Gaucher diseaseORPHA:355 · Frequent (79-30%)
Glutaryl-CoA dehydrogenase deficiencyORPHA:25 · Frequent (79-30%)
Hereditary angioedema type 1ORPHA:100050 · Frequent (79-30%)
Hereditary late-onset Parkinson diseaseORPHA:411602 · Frequent (79-30%)
High-grade dysplasia in patients with Barrett esophagusORPHA:231080 · Frequent (79-30%)
Hyperparathyroidism-jaw tumor syndromeORPHA:99880 · Frequent (79-30%)
Immune-mediated necrotizing myopathyORPHA:206569 · Frequent (79-30%)
Intermediate nemaline myopathyORPHA:171433 · Frequent (79-30%)
Juvenile primary lateral sclerosisORPHA:247604 · Frequent (79-30%)
Kindler epidermolysis bullosaORPHA:2908 · Frequent (79-30%)
Lassa feverORPHA:99824 · Frequent (79-30%)
Limited cutaneous systemic sclerosisORPHA:220402 · Frequent (79-30%)
Lipoid proteinosisORPHA:530 · Frequent (79-30%)
Medullary thyroid carcinomaORPHA:1332 · Frequent (79-30%)
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectORPHA:485421 · Frequent (79-30%)
Midline interhemispheric variant of holoprosencephalyORPHA:93926 · Frequent (79-30%)
Mitochondrial membrane protein-associated neurodegenerationORPHA:289560 · Frequent (79-30%)
Moebius syndromeORPHA:570 · Frequent (79-30%)
Myasthenia gravisORPHA:589 · Frequent (79-30%)
NAD(P)HX epimerase deficiencyORPHA:555407 · Frequent (79-30%)
NeuroferritinopathyORPHA:157846 · Frequent (79-30%)
Neurofibromatosis-Noonan syndromeORPHA:638 · Frequent (79-30%)
Neuroleptic malignant syndromeORPHA:94093 · Frequent (79-30%)
Occipital horn syndromeORPHA:198 · Frequent (79-30%)
Oromandibular dystoniaORPHA:93958 · Frequent (79-30%)
Overlap myositisORPHA:206572 · Frequent (79-30%)
Palmoplantar keratoderma-esophageal carcinoma syndromeORPHA:2198 · Frequent (79-30%)
Paramyotonia congenita of Von EulenburgORPHA:684 · Frequent (79-30%)
Parathyroid carcinomaORPHA:143 · Frequent (79-30%)
Parkinsonian-pyramidal syndromeORPHA:171695 · Frequent (79-30%)
PellagraORPHA:97352 · Frequent (79-30%)
PLA2G6-related neurodegeneration, adult-onsetORPHA:199351 · Frequent (79-30%)
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndromeORPHA:572013 · Frequent (79-30%)
Primary lateral sclerosisORPHA:35689 · Frequent (79-30%)
Progressive external ophthalmoplegia-myopathy-emaciation syndromeORPHA:352447 · Frequent (79-30%)
Proximal myotonic myopathyORPHA:606 · Frequent (79-30%)
Proximal spinal muscular atrophyORPHA:70 · Frequent (79-30%)
Rapid-onset dystonia-parkinsonismORPHA:71517 · Frequent (79-30%)
Recessive mitochondrial ataxia syndromeORPHA:94125 · Frequent (79-30%)
Reynolds syndromeORPHA:779 · Frequent (79-30%)
Riboflavin transporter deficiencyORPHA:97229 · Frequent (79-30%)
Richieri Costa-da Silva syndromeORPHA:3101 · Frequent (79-30%)
Sandhoff disease, adult formORPHA:309169 · Frequent (79-30%)
ScleromyxedemaORPHA:167635 · Frequent (79-30%)
Semilobar holoprosencephalyORPHA:220386 · Frequent (79-30%)
Severe congenital nemaline myopathyORPHA:171430 · Frequent (79-30%)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeORPHA:447997 · Frequent (79-30%)
Spinocerebellar ataxia type 1ORPHA:98755 · Frequent (79-30%)
Spinocerebellar ataxia type 42ORPHA:458803 · Frequent (79-30%)
Spinocerebellar ataxia type 6ORPHA:98758 · Frequent (79-30%)
Sporadic infantile bilateral striatal necrosisORPHA:225147 · Frequent (79-30%)
Stevens-Johnson syndromeORPHA:36426 · Frequent (79-30%)
Stiff person spectrum disorderORPHA:3198 · Frequent (79-30%)
Synaptic congenital myasthenic syndromeORPHA:98915 · Frequent (79-30%)
Tay-Sachs diseaseORPHA:845 · Frequent (79-30%)
Thymoma-hypogammaglobulinemia syndromeORPHA:169105 · Frequent (79-30%)
Thyroid lymphomaORPHA:97285 · Frequent (79-30%)
Toxin-mediated infectious botulismORPHA:230800 · Frequent (79-30%)
Tremor-ataxia-central hypomyelination syndromeORPHA:447896 · Frequent (79-30%)
Vocal cord and pharyngeal distal myopathyORPHA:600 · Frequent (79-30%)
Wiedemann-Steiner syndromeORPHA:319182 · Frequent (79-30%)
Worster-Drought syndromeORPHA:3465 · Frequent (79-30%)
16q24.3 microdeletion syndromeORPHA:261250 · Occasional (29-5%)
2p15p16.1 microdeletion syndromeORPHA:261349 · Occasional (29-5%)
6-pyruvoyl-tetrahydropterin synthase deficiencyORPHA:13 · Occasional (29-5%)
7q31 microdeletion syndromeORPHA:251061 · Occasional (29-5%)
8q24.3 microdeletion syndromeORPHA:508488 · Occasional (29-5%)
Acetazolamide-responsive myotoniaORPHA:99736 · Occasional (29-5%)
Adult-onset autosomal dominant leukodystrophyORPHA:99027 · Occasional (29-5%)
Alexander disease type IORPHA:363717 · Occasional (29-5%)
Angelman syndromeORPHA:72 · Occasional (29-5%)
Angelman syndrome due to a point mutationORPHA:411511 · Occasional (29-5%)
Angelman syndrome due to maternal 15q11q13 deletionORPHA:98794 · Occasional (29-5%)
Angelman syndrome due to paternal uniparental disomy of chromosome 15ORPHA:98795 · Occasional (29-5%)
Antisynthetase syndromeORPHA:81 · Occasional (29-5%)
Aromatic L-amino acid decarboxylase deficiencyORPHA:35708 · Occasional (29-5%)
Atypical pantothenate kinase-associated neurodegenerationORPHA:216873 · Occasional (29-5%)
Autosomal dominant progressive external ophthalmoplegiaORPHA:254892 · Occasional (29-5%)
Autosomal dominant spastic paraplegia type 31ORPHA:101011 · Occasional (29-5%)
Autosomal recessive cerebellar ataxia due to STUB1 deficiencyORPHA:412057 · Occasional (29-5%)
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formORPHA:79408 · Occasional (29-5%)
Autosomal recessive spastic ataxia of Charlevoix-SaguenayORPHA:98 · Occasional (29-5%)
Autosomal spastic paraplegia type 18ORPHA:209951 · Occasional (29-5%)
Bilateral perisylvian polymicrogyriaORPHA:98889 · Occasional (29-5%)
Bilateral striopallidodentate calcinosisORPHA:1980 · Occasional (29-5%)
CACH syndromeORPHA:135 · Occasional (29-5%)
CADASILORPHA:136 · Occasional (29-5%)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeORPHA:1171 · Occasional (29-5%)
ChoreoacanthocytosisORPHA:2388 · Occasional (29-5%)
Chronic graft versus host diseaseORPHA:99921 · Occasional (29-5%)
Cleft lip and alveolusORPHA:141291 · Occasional (29-5%)
Combined oxidative phosphorylation defect type 27ORPHA:477774 · Occasional (29-5%)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeORPHA:70472 · Occasional (29-5%)
Congenital-onset Steinert myotonic dystrophyORPHA:589821 · Occasional (29-5%)
DermatomyositisORPHA:221 · Occasional (29-5%)
Distal myotilinopathyORPHA:98911 · Occasional (29-5%)
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionORPHA:268261 · Occasional (29-5%)
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeORPHA:496641 · Occasional (29-5%)
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationORPHA:466950 · Occasional (29-5%)
Fragile X-associated tremor/ataxia syndromeORPHA:93256 · Occasional (29-5%)
Friedreich ataxiaORPHA:95 · Occasional (29-5%)
Full NF2-related schwannomatosisORPHA:637 · Occasional (29-5%)
Gamma-heavy chain diseaseORPHA:100026 · Occasional (29-5%)
Generalized eruptive keratoacanthomaORPHA:411777 · Occasional (29-5%)
Glycogen storage disease due to acid maltase deficiencyORPHA:365 · Occasional (29-5%)
GM1 gangliosidosisORPHA:354 · Occasional (29-5%)
Hereditary motor and sensory neuropathy, Okinawa typeORPHA:90117 · Occasional (29-5%)
Hereditary sensory and autonomic neuropathy type 4ORPHA:642 · Occasional (29-5%)
HSD10 disease, infantile typeORPHA:391428 · Occasional (29-5%)
HyperlysinemiaORPHA:2203 · Occasional (29-5%)
Hyperprolinemia type 2ORPHA:79101 · Occasional (29-5%)
Hypohidrotic ectodermal dysplasiaORPHA:238468 · Occasional (29-5%)
Idiopathic hypereosinophilic syndromeORPHA:3260 · Occasional (29-5%)
IgG4-related pachymeningitisORPHA:449427 · Occasional (29-5%)
IgG4-related thyroid diseaseORPHA:64744 · Occasional (29-5%)
Intellectual disability-alacrima-achalasia syndromeORPHA:289483 · Occasional (29-5%)
Isolated corpus callosum agenesisORPHA:200 · Occasional (29-5%)
Isolated Pierre Robin sequenceORPHA:718 · Occasional (29-5%)
Juvenile amyotrophic lateral sclerosisORPHA:300605 · Occasional (29-5%)
Juvenile dermatomyositisORPHA:93672 · Occasional (29-5%)
Juvenile sialidosis type 2ORPHA:93399 · Occasional (29-5%)
Kearns-Sayre syndromeORPHA:480 · Occasional (29-5%)
Kufor-Rakeb syndromeORPHA:306674 · Occasional (29-5%)
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeORPHA:496689 · Occasional (29-5%)
Laminin subunit alpha 2-related congenital muscular dystrophyORPHA:258 · Occasional (29-5%)
Leigh syndromeORPHA:506 · Occasional (29-5%)
Lissencephaly syndrome, Norman-Roberts typeORPHA:89844 · Occasional (29-5%)
Lissencephaly type 1 due to doublecortin gene mutationORPHA:2148 · Occasional (29-5%)
Lobar holoprosencephalyORPHA:93924 · Occasional (29-5%)
Lower motor neuron syndrome with late-adult onsetORPHA:276435 · Occasional (29-5%)
Lujo hemorrhagic feverORPHA:319213 · Occasional (29-5%)
Machado-Joseph disease type 1ORPHA:276238 · Occasional (29-5%)
Machado-Joseph disease type 2ORPHA:276241 · Occasional (29-5%)
Machado-Joseph disease type 3ORPHA:276244 · Occasional (29-5%)
Madras motor neuron diseaseORPHA:137867 · Occasional (29-5%)
Maffucci syndromeORPHA:163634 · Occasional (29-5%)
MEPAN syndromeORPHA:508093 · Occasional (29-5%)
Mitochondrial DNA-associated Leigh syndromeORPHA:255210 · Occasional (29-5%)
Mohr-Tranebjaerg syndromeORPHA:52368 · Occasional (29-5%)
Mucopolysaccharidosis type 3ORPHA:581 · Occasional (29-5%)
Multiple acyl-CoA dehydrogenase deficiencyORPHA:26791 · Occasional (29-5%)
Multiple congenital anomalies-hypotonia-seizures syndromeORPHA:280633 · Occasional (29-5%)
Myotonia permanensORPHA:99735 · Occasional (29-5%)
Neurocutaneous melanocytosisORPHA:2481 · Occasional (29-5%)
Northern epilepsyORPHA:1947 · Occasional (29-5%)
Opitz GBBB syndromeORPHA:2745 · Occasional (29-5%)
Ossification anomalies-psychomotor developmental delay syndromeORPHA:73230 · Occasional (29-5%)
Osteogenesis imperfectaORPHA:666 · Occasional (29-5%)
Paraneoplastic cerebellar degenerationORPHA:623626 · Occasional (29-5%)
Pearson syndromeORPHA:699 · Occasional (29-5%)
Plectin-related limb-girdle muscular dystrophy R17ORPHA:254361 · Occasional (29-5%)
Pleural mesotheliomaORPHA:50251 · Occasional (29-5%)
PoliomyelitisORPHA:2912 · Occasional (29-5%)
Postencephalitic parkinsonismORPHA:97349 · Occasional (29-5%)
Postpoliomyelitis syndromeORPHA:2942 · Occasional (29-5%)
Primary dystonia, DYT4 typeORPHA:98805 · Occasional (29-5%)
Primary progressive freezing gaitORPHA:75567 · Occasional (29-5%)
Progressive supranuclear palsy-corticobasal syndromeORPHA:240103 · Occasional (29-5%)
Progressive supranuclear palsy-progressive non-fluent aphasia syndromeORPHA:240112 · Occasional (29-5%)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeORPHA:438213 · Occasional (29-5%)
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeORPHA:280384 · Occasional (29-5%)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeORPHA:480864 · Occasional (29-5%)
Recurrent respiratory papillomatosisORPHA:60032 · Occasional (29-5%)
RERE-related neurodevelopmental syndromeORPHA:494344 · Occasional (29-5%)
Sandhoff disease, juvenile formORPHA:309162 · Occasional (29-5%)
SATB2-associated syndrome due to a pathogenic variantORPHA:576283 · Occasional (29-5%)
Septopreoptic holoprosencephalyORPHA:280195 · Occasional (29-5%)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeORPHA:488627 · Occasional (29-5%)
Spinocerebellar ataxia type 13ORPHA:98768 · Occasional (29-5%)
Spinocerebellar ataxia type 8ORPHA:98760 · Occasional (29-5%)
Spinocerebellar ataxia with axonal neuropathy type 2ORPHA:64753 · Occasional (29-5%)
Sporadic adult-onset ataxia of unknown etiologyORPHA:247234 · Occasional (29-5%)
Sturge-Weber syndromeORPHA:3205 · Occasional (29-5%)
Systemic sclerosisORPHA:90291 · Occasional (29-5%)
Thyroid ectopiaORPHA:95712 · Occasional (29-5%)
Tick-borne encephalitisORPHA:297 · Occasional (29-5%)
TK2-related mitochondrial DNA maintenance defect, myopathic formORPHA:254875 · Occasional (29-5%)
TrichinellosisORPHA:863 · Occasional (29-5%)
Trisomy 10p syndromeORPHA:171929 · Occasional (29-5%)
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndromeORPHA:466943 · Occasional (29-5%)
WARS2-related combined oxidative phosphorylation defectORPHA:572798 · Occasional (29-5%)
Wild type ABeta2M amyloidosisORPHA:85446 · Occasional (29-5%)
X-linked cerebral adrenoleukodystrophyORPHA:139396 · Occasional (29-5%)
X-linked cerebral-cerebellar-coloboma syndromeORPHA:163961 · Occasional (29-5%)
X-linked hypophosphatemiaORPHA:89936 · Occasional (29-5%)
ZTTK syndromeORPHA:500150 · Occasional (29-5%)
AL amyloidosisORPHA:85443 · Very rare (<4-1%)
Alport syndromeORPHA:63 · Very rare (<4-1%)
Autosomal dominant optic atrophy, classic formORPHA:98673 · Very rare (<4-1%)
Autosomal recessive spastic paraplegia type 5AORPHA:100986 · Very rare (<4-1%)
Bronchogenic cystORPHA:2357 · Very rare (<4-1%)
Dysferlin-related limb-girdle muscular dystrophy R2ORPHA:268 · Very rare (<4-1%)
Fatty acid hydroxylase-associated neurodegenerationORPHA:329308 · Very rare (<4-1%)
Glycogen storage disease due to muscle glycogen phosphorylase deficiencyORPHA:368 · Very rare (<4-1%)
HSD10 diseaseORPHA:391417 · Very rare (<4-1%)
Lacrimoauriculodentodigital syndromeORPHA:2363 · Very rare (<4-1%)
Miller Fisher syndromeORPHA:98919 · Very rare (<4-1%)
Mowat-Wilson syndromeORPHA:2152 · Very rare (<4-1%)
Mowat-Wilson syndrome due to a ZEB2 point mutationORPHA:261552 · Very rare (<4-1%)
Mowat-Wilson syndrome due to monosomy 2q22ORPHA:261537 · Very rare (<4-1%)
Multiple osteochondromasORPHA:321 · Very rare (<4-1%)
Paroxysmal nocturnal hemoglobinuriaORPHA:447 · Very rare (<4-1%)
Schinzel-Giedion syndromeORPHA:798 · Very rare (<4-1%)
Sjögren-Larsson syndromeORPHA:816 · Very rare (<4-1%)
Spastic paraplegia type 7ORPHA:99013 · Very rare (<4-1%)
Spinal muscular atrophy-progressive myoclonic epilepsy syndromeORPHA:2590 · Very rare (<4-1%)
Spinocerebellar ataxia type 36ORPHA:276198 · Very rare (<4-1%)
Thomsen and Becker diseaseORPHA:614 · Very rare (<4-1%)
FLNC-related handgrip and calf weakness-distal myopathyORPHA:63273 · Excluded (0%)
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeORPHA:397744 · Excluded (0%)