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

Sensorineural hearing impairment

HP:0000407

對應病歷用詞(0)

尚無對應用詞。

具此 HPO 的疾病（附加參考）(321)

6q25.2q25.3 microdeletion syndromeORPHA:251056 · Very frequent (99-80%)
8q12 microduplication syndromeORPHA:228399 · Very frequent (99-80%)
Adult Refsum diseaseORPHA:773 · Very frequent (99-80%)
Albinism-deafness syndromeORPHA:998 · Very frequent (99-80%)
Arthrogryposis-like hand anomaly-sensorineural deafness syndromeORPHA:1144 · Very frequent (99-80%)
Ataxia-deafness-intellectual disability syndromeORPHA:1188 · Very frequent (99-80%)
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndromeORPHA:1192 · Very frequent (99-80%)
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeORPHA:314404 · Very frequent (99-80%)
Autosomal dominant otospondylomegaepiphyseal dysplasiaORPHA:166100 · Very frequent (99-80%)
Autosomal recessive hypophosphatemic ricketsORPHA:289176 · Very frequent (99-80%)
Autosomal recessive otospondylomegaepiphyseal dysplasiaORPHA:1427 · Very frequent (99-80%)
Autosomal recessive Stickler syndromeORPHA:250984 · Very frequent (99-80%)
Björnstad syndromeORPHA:123 · Very frequent (99-80%)
Branchiogenic deafness syndromeORPHA:50815 · Very frequent (99-80%)
Cataract-ataxia-deafness syndromeORPHA:1368 · Very frequent (99-80%)
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeORPHA:436174 · Very frequent (99-80%)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeORPHA:1171 · Very frequent (99-80%)
Charcot-Marie-Tooth disease type 1EORPHA:90658 · Very frequent (99-80%)
CINCA syndromeORPHA:1451 · Very frequent (99-80%)
Congenital rubella syndromeORPHA:290 · Very frequent (99-80%)
Corneal dystrophy-perceptive deafness syndromeORPHA:1490 · Very frequent (99-80%)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeORPHA:52055 · Very frequent (99-80%)
Craniofacial-deafness-hand syndromeORPHA:1529 · Very frequent (99-80%)
Deaf blind hypopigmentation syndrome, Yemenite typeORPHA:3214 · Very frequent (99-80%)
Deafness with labyrinthine aplasia, microtia, and microdontiaORPHA:90024 · Very frequent (99-80%)
Deafness-craniofacial syndromeORPHA:3241 · Very frequent (99-80%)
Deafness-enamel hypoplasia-nail defects syndromeORPHA:3220 · Very frequent (99-80%)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndromeORPHA:3224 · Very frequent (99-80%)
Deafness-infertility syndromeORPHA:94064 · Very frequent (99-80%)
Deafness-intellectual disability syndrome, Martin-Probst typeORPHA:85321 · Very frequent (99-80%)
Deafness-oligodontia syndromeORPHA:3230 · Very frequent (99-80%)
Deafness-small bowel diverticulosis-neuropathy syndromeORPHA:3217 · Very frequent (99-80%)
Deafness-vitiligo-achalasia syndromeORPHA:3239 · Very frequent (99-80%)
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndromeORPHA:71267 · Very frequent (99-80%)
Developmental malformations-deafness-dystonia syndromeORPHA:79107 · Very frequent (99-80%)
Distal deletion 19p syndromeORPHA:96129 · Very frequent (99-80%)
Donnai-Barrow syndromeORPHA:2143 · Very frequent (99-80%)
EAST syndromeORPHA:199343 · Very frequent (99-80%)
Ectodermal dysplasia-sensorineural deafness syndromeORPHA:1883 · Very frequent (99-80%)
Epiphyseal dysplasia-hearing loss-dysmorphism syndromeORPHA:1825 · Very frequent (99-80%)
Ermine phenotypeORPHA:999 · Very frequent (99-80%)
Fetal iodine syndromeORPHA:1910 · Very frequent (99-80%)
Fountain syndromeORPHA:3219 · Very frequent (99-80%)
GATA2 deficiency spectrumORPHA:228423 · Very frequent (99-80%)
Gemignani syndromeORPHA:2074 · Very frequent (99-80%)
Gingival fibromatosis-progressive deafness syndromeORPHA:2027 · Very frequent (99-80%)
Growth delay due to insulin-like growth factor type 1 deficiencyORPHA:73272 · Very frequent (99-80%)
Hearing loss-familial salivary gland insensitivity to aldosterone syndromeORPHA:3225 · Very frequent (99-80%)
Histidinuria-renal tubular defect syndromeORPHA:2158 · Very frequent (99-80%)
Infantile multisystem neurologic-endocrine-pancreatic diseaseORPHA:456312 · Very frequent (99-80%)
Isolated complex I deficiencyORPHA:2609 · Very frequent (99-80%)
Keipert syndromeORPHA:2662 · Very frequent (99-80%)
Keratoderma hereditarium mutilansORPHA:494 · Very frequent (99-80%)
Krabbe diseaseORPHA:487 · Very frequent (99-80%)
Lipodystrophy-intellectual disability-deafness syndromeORPHA:50811 · Very frequent (99-80%)
Madras motor neuron diseaseORPHA:137867 · Very frequent (99-80%)
Marshall syndromeORPHA:560 · Very frequent (99-80%)
MEGDEL syndromeORPHA:352328 · Very frequent (99-80%)
MERRFORPHA:551 · Very frequent (99-80%)
Microcephaly-deafness-intellectual disability syndromeORPHA:2533 · Very frequent (99-80%)
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeORPHA:457351 · Very frequent (99-80%)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaORPHA:1933 · Very frequent (99-80%)
Mitochondrial DNA-related cardiomyopathy and hearing lossORPHA:1349 · Very frequent (99-80%)
Mitochondrial myopathy-lactic acidosis-deafness syndromeORPHA:2597 · Very frequent (99-80%)
Nathalie syndromeORPHA:2663 · Very frequent (99-80%)
Neonatal adrenoleukodystrophyORPHA:44 · Very frequent (99-80%)
Nephropathy-deafness-hyperparathyroidism syndromeORPHA:2668 · Very frequent (99-80%)
Neutropenia-monocytopenia-deafness syndromeORPHA:2690 · Very frequent (99-80%)
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeORPHA:231720 · Very frequent (99-80%)
Noonan syndrome with multiple lentiginesORPHA:500 · Very frequent (99-80%)
Ocular albinism with late-onset sensorineural deafnessORPHA:1000 · Very frequent (99-80%)
Palmoplantar keratoderma-deafness syndromeORPHA:2202 · Very frequent (99-80%)
Pendred syndromeORPHA:705 · Very frequent (99-80%)
Peroxisomal acyl-CoA oxidase deficiencyORPHA:2971 · Very frequent (99-80%)
Perrault syndromeORPHA:2855 · Very frequent (99-80%)
Phosphoribosylpyrophosphate synthetase superactivityORPHA:3222 · Very frequent (99-80%)
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeORPHA:293987 · Very frequent (99-80%)
Renal caliceal diverticuli-deafness syndromeORPHA:2838 · Very frequent (99-80%)
Retinitis pigmentosaORPHA:791 · Very frequent (99-80%)
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndromeORPHA:3085 · Very frequent (99-80%)
SHORT syndromeORPHA:3163 · Very frequent (99-80%)
Sialidosis type 1ORPHA:812 · Very frequent (99-80%)
Spastic paraparesis-deafness syndromeORPHA:2815 · Very frequent (99-80%)
Spastic paraplegia-nephritis-deafness syndromeORPHA:2820 · Very frequent (99-80%)
Stickler syndrome type 2ORPHA:90654 · Very frequent (99-80%)
Thiamine-responsive megaloblastic anemia syndromeORPHA:49827 · Very frequent (99-80%)
Usher syndromeORPHA:886 · Very frequent (99-80%)
Usher syndrome type 1ORPHA:231169 · Very frequent (99-80%)
Usher syndrome type 2ORPHA:231178 · Very frequent (99-80%)
Usher syndrome type 3ORPHA:231183 · Very frequent (99-80%)
Uveal coloboma-cleft lip and palate-intellectual disabilityORPHA:1473 · Very frequent (99-80%)
Wolfram syndromeORPHA:3463 · Very frequent (99-80%)
X-linked mandibulofacial dysostosisORPHA:1131 · Very frequent (99-80%)
X-linked spinocerebellar ataxia type 3ORPHA:85297 · Very frequent (99-80%)
Xq21 microdeletion syndromeORPHA:1435 · Very frequent (99-80%)
19p13.12 microdeletion syndromeORPHA:254346 · Frequent (79-30%)
Abruzzo-Erickson syndromeORPHA:921 · Frequent (79-30%)
Acro-renal-ocular syndromeORPHA:959 · Frequent (79-30%)
Acrocraniofacial dysostosisORPHA:949 · Frequent (79-30%)
Acrootoocular syndromeORPHA:2980 · Frequent (79-30%)
Acute bilirubin encephalopathyORPHA:529799 · Frequent (79-30%)
Alobar holoprosencephalyORPHA:93925 · Frequent (79-30%)
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndromeORPHA:324540 · Frequent (79-30%)
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeORPHA:440354 · Frequent (79-30%)
Autosomal dominant optic atrophy plus syndromeORPHA:1215 · Frequent (79-30%)
Autosomal dominant optic atrophy, classic formORPHA:98673 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 24ORPHA:101004 · Frequent (79-30%)
Autosomal recessive spastic paraplegia type 44ORPHA:320401 · Frequent (79-30%)
Aymé-Gripp syndromeORPHA:1272 · Frequent (79-30%)
Biotinidase deficiencyORPHA:79241 · Frequent (79-30%)
Branchiootic syndromeORPHA:52429 · Frequent (79-30%)
Brittle cornea syndromeORPHA:90354 · Frequent (79-30%)
CADDSORPHA:369942 · Frequent (79-30%)
Cataract-deafness-hypogonadism syndromeORPHA:1383 · Frequent (79-30%)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeORPHA:504476 · Frequent (79-30%)
Charcot-Marie-Tooth disease type 4DORPHA:99950 · Frequent (79-30%)
Chronic bilirubin encephalopathyORPHA:529808 · Frequent (79-30%)
CODAS syndromeORPHA:1458 · Frequent (79-30%)
COFS syndromeORPHA:1466 · Frequent (79-30%)
Cogan syndromeORPHA:1467 · Frequent (79-30%)
Combined oxidative phosphorylation defect type 13ORPHA:319514 · Frequent (79-30%)
Cornelia de Lange syndromeORPHA:199 · Frequent (79-30%)
Craniofrontonasal dysplasiaORPHA:1520 · Frequent (79-30%)
Duane retraction syndromeORPHA:233 · Frequent (79-30%)
Facioscapulohumeral dystrophyORPHA:269 · Frequent (79-30%)
Fetal cytomegalovirus syndromeORPHA:294 · Frequent (79-30%)
Frontometaphyseal dysplasiaORPHA:1826 · Frequent (79-30%)
Full NF2-related schwannomatosisORPHA:637 · Frequent (79-30%)
Hirschsprung disease-deafness-polydactyly syndromeORPHA:2155 · Frequent (79-30%)
Hurler-Scheie syndromeORPHA:93476 · Frequent (79-30%)
Hyperostosis corticalis generalisataORPHA:3416 · Frequent (79-30%)
Infantile Refsum diseaseORPHA:772 · Frequent (79-30%)
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeORPHA:397709 · Frequent (79-30%)
Johanson-Blizzard syndromeORPHA:2315 · Frequent (79-30%)
Kabuki syndromeORPHA:2322 · Frequent (79-30%)
Kallmann syndrome-heart disease syndromeORPHA:2326 · Frequent (79-30%)
Laurence-Moon syndromeORPHA:2377 · Frequent (79-30%)
Leigh syndromeORPHA:506 · Frequent (79-30%)
Leukoencephalopathy with bilateral anterior temporal lobe cystsORPHA:139444 · Frequent (79-30%)
Lobar holoprosencephalyORPHA:93924 · Frequent (79-30%)
Lowe-Kohn-Cohen syndromeORPHA:2408 · Frequent (79-30%)
MELASORPHA:550 · Frequent (79-30%)
Microcephalic osteodysplastic primordial dwarfism type IIORPHA:2637 · Frequent (79-30%)
Midline interhemispheric variant of holoprosencephalyORPHA:93926 · Frequent (79-30%)
Mitochondrial neurogastrointestinal encephalomyopathyORPHA:298 · Frequent (79-30%)
Mohr-Tranebjaerg syndromeORPHA:52368 · Frequent (79-30%)
Mucopolysaccharidosis type 1ORPHA:579 · Frequent (79-30%)
Mucopolysaccharidosis type 2ORPHA:580 · Frequent (79-30%)
Muenke syndromeORPHA:53271 · Frequent (79-30%)
Multiple sulfatase deficiencyORPHA:585 · Frequent (79-30%)
Mutilating palmoplantar keratoderma with periorificial keratotic plaquesORPHA:659 · Frequent (79-30%)
MYH9-related syndromic thrombocytopeniaORPHA:182050 · Frequent (79-30%)
Neutral lipid storage disease with ichthyosisORPHA:98907 · Frequent (79-30%)
Oculoauriculovertebral spectrum with radial defectsORPHA:2549 · Frequent (79-30%)
Piebald trait-neurologic defects syndromeORPHA:2885 · Frequent (79-30%)
Proximal myotonic myopathyORPHA:606 · Frequent (79-30%)
Proximal symphalangismORPHA:3250 · Frequent (79-30%)
RNF13-related severe early-onset epileptic encephalopathyORPHA:544503 · Frequent (79-30%)
SclerosteosisORPHA:3152 · Frequent (79-30%)
Semilobar holoprosencephalyORPHA:220386 · Frequent (79-30%)
Sensorineural hearing loss-early graying-essential tremor syndromeORPHA:66633 · Frequent (79-30%)
Severe phosphoribosylpyrophosphate synthetase superactivityORPHA:411543 · Frequent (79-30%)
Short stature-deafness-neutrophil dysfunction-dysmorphism syndromeORPHA:2866 · Frequent (79-30%)
Spastic paraplegia-severe developmental delay-epilepsy syndromeORPHA:464282 · Frequent (79-30%)
Spinocerebellar ataxia type 37ORPHA:363710 · Frequent (79-30%)
Stickler syndromeORPHA:828 · Frequent (79-30%)
Stickler syndrome type 1ORPHA:90653 · Frequent (79-30%)
Susac syndromeORPHA:838 · Frequent (79-30%)
Tall stature-intellectual disability-renal anomalies syndromeORPHA:500095 · Frequent (79-30%)
Thyrocerebrorenal syndromeORPHA:3327 · Frequent (79-30%)
Trisomy 13 syndromeORPHA:3378 · Frequent (79-30%)
Vogt-Koyanagi-Harada diseaseORPHA:3437 · Frequent (79-30%)
VPS11-related autosomal recessive hypomyelinating leukodystrophyORPHA:466934 · Frequent (79-30%)
Waardenburg syndromeORPHA:3440 · Frequent (79-30%)
Waardenburg syndrome type 2ORPHA:895 · Frequent (79-30%)
Williams syndromeORPHA:904 · Frequent (79-30%)
X-linked agammaglobulinemiaORPHA:47 · Frequent (79-30%)
X-linked Alport syndrome-diffuse leiomyomatosisORPHA:1018 · Frequent (79-30%)
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyORPHA:423479 · Frequent (79-30%)
X-linked intellectual disability, Najm typeORPHA:163937 · Frequent (79-30%)
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeORPHA:435938 · Frequent (79-30%)
Xeroderma pigmentosumORPHA:910 · Frequent (79-30%)
Zellweger syndromeORPHA:912 · Frequent (79-30%)
16p13.11 microdeletion syndromeORPHA:261236 · Occasional (29-5%)
1p36 deletion syndromeORPHA:1606 · Occasional (29-5%)
1q21.1 microdeletion syndromeORPHA:250989 · Occasional (29-5%)
Acrocallosal syndromeORPHA:36 · Occasional (29-5%)
AdenohypophysitisORPHA:95512 · Occasional (29-5%)
ALG12-CDGORPHA:79324 · Occasional (29-5%)
Alpha-mannosidosis, infantile formORPHA:309282 · Occasional (29-5%)
Apert syndromeORPHA:87 · Occasional (29-5%)
Autosomal dominant Alport syndromeORPHA:88918 · Occasional (29-5%)
Autosomal dominant spastic paraplegia type 9AORPHA:447753 · Occasional (29-5%)
Autosomal recessive cerebellar ataxia with late-onset spasticityORPHA:352641 · Occasional (29-5%)
Bilateral polymicrogyriaORPHA:268940 · Occasional (29-5%)
BOR syndromeORPHA:107 · Occasional (29-5%)
Brain-lung-thyroid syndromeORPHA:209905 · Occasional (29-5%)
CEDNIK syndromeORPHA:66631 · Occasional (29-5%)
Charcot-Marie-Tooth disease type 1FORPHA:101085 · Occasional (29-5%)
Charcot-Marie-Tooth disease type 4B2ORPHA:99956 · Occasional (29-5%)
Charcot-Marie-Tooth disease type 4CORPHA:99949 · Occasional (29-5%)
Coffin-Lowry syndromeORPHA:192 · Occasional (29-5%)
COG5-CDGORPHA:263487 · Occasional (29-5%)
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeORPHA:444077 · Occasional (29-5%)
Cohen syndromeORPHA:193 · Occasional (29-5%)
Conductive deafness-malformed external ear syndromeORPHA:3216 · Occasional (29-5%)
Congenital hereditary endothelial dystrophy type IIORPHA:293603 · Occasional (29-5%)
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationORPHA:300570 · Occasional (29-5%)
Craniometaphyseal dysplasiaORPHA:1522 · Occasional (29-5%)
Distal 22q11.2 microdeletion syndromeORPHA:261330 · Occasional (29-5%)
Distal limb deficiencies-micrognathia syndromeORPHA:1307 · Occasional (29-5%)
Distal renal tubular acidosisORPHA:18 · Occasional (29-5%)
Distal triplication 15q syndromeORPHA:314588 · Occasional (29-5%)
EEC syndromeORPHA:1896 · Occasional (29-5%)
Endosteal hyperostosis, Worth typeORPHA:2790 · Occasional (29-5%)
Fabry diseaseORPHA:324 · Occasional (29-5%)
Familial cold urticariaORPHA:47045 · Occasional (29-5%)
Familial isolated dilated cardiomyopathyORPHA:154 · Occasional (29-5%)
Fatal infantile lactic acidosis with methylmalonic aciduriaORPHA:17 · Occasional (29-5%)
Feingold syndromeORPHA:1305 · Occasional (29-5%)
Feingold syndrome type 1ORPHA:391641 · Occasional (29-5%)
FG syndrome type 1ORPHA:93932 · Occasional (29-5%)
Folinic acid-responsive seizuresORPHA:79097 · Occasional (29-5%)
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeORPHA:2072 · Occasional (29-5%)
Generalized arterial calcification of infancyORPHA:51608 · Occasional (29-5%)
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeORPHA:544488 · Occasional (29-5%)
Granulomatosis with polyangiitisORPHA:900 · Occasional (29-5%)
Growth delay-intellectual disability-hepatopathy syndromeORPHA:541423 · Occasional (29-5%)
Haddad syndromeORPHA:99803 · Occasional (29-5%)
Hereditary neuropathy with liability to pressure palsiesORPHA:640 · Occasional (29-5%)
Horizontal gaze palsy with progressive scoliosisORPHA:2744 · Occasional (29-5%)
Hypocomplementemic urticarial vasculitisORPHA:36412 · Occasional (29-5%)
Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA:226307 · Occasional (29-5%)
Isolated ATP synthase deficiencyORPHA:254913 · Occasional (29-5%)
Isolated split hand-split foot malformationORPHA:2440 · Occasional (29-5%)
Kallmann syndromeORPHA:478 · Occasional (29-5%)
Kyphoscoliotic Ehlers-Danlos syndromeORPHA:536545 · Occasional (29-5%)
Lacrimoauriculodentodigital syndromeORPHA:2363 · Occasional (29-5%)
Lateral meningocele syndromeORPHA:2789 · Occasional (29-5%)
Megalocornea-intellectual disability syndromeORPHA:2479 · Occasional (29-5%)
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromeORPHA:500159 · Occasional (29-5%)
Microphthalmia with brain and digit anomaliesORPHA:139471 · Occasional (29-5%)
Middle ear neuroendocrine tumorORPHA:100084 · Occasional (29-5%)
Mitochondrial DNA-associated Leigh syndromeORPHA:255210 · Occasional (29-5%)
MOGS-CDGORPHA:79330 · Occasional (29-5%)
Monosomy 18q syndromeORPHA:1600 · Occasional (29-5%)
Mucopolysaccharidosis type 3ORPHA:581 · Occasional (29-5%)
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionORPHA:352665 · Occasional (29-5%)
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationORPHA:453504 · Occasional (29-5%)
Neutral lipid storage disease with myopathyORPHA:98908 · Occasional (29-5%)
Noonan syndromeORPHA:648 · Occasional (29-5%)
Norrie diseaseORPHA:649 · Occasional (29-5%)
Oculocerebral hypopigmentation syndrome, Cross typeORPHA:2719 · Occasional (29-5%)
Oculofaciocardiodental syndromeORPHA:2712 · Occasional (29-5%)
Oculoskeletodental syndromeORPHA:557003 · Occasional (29-5%)
PanhypophysitisORPHA:95513 · Occasional (29-5%)
Patterson-Stevenson-Fontaine syndromeORPHA:2439 · Occasional (29-5%)
PGM3-CDGORPHA:443811 · Occasional (29-5%)
PLAA-associated neurodevelopmental disorderORPHA:521426 · Occasional (29-5%)
Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeORPHA:391408 · Occasional (29-5%)
Primary triglyceride deposit cardiomyovasculopathyORPHA:565612 · Occasional (29-5%)
Proximal 16p11.2 microdeletion syndromeORPHA:261197 · Occasional (29-5%)
Proximal 3p25.3 microdeletion syndromeORPHA:435638 · Occasional (29-5%)
Pseudohypoparathyroidism type 1AORPHA:79443 · Occasional (29-5%)
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeORPHA:71289 · Occasional (29-5%)
Ramon syndromeORPHA:3019 · Occasional (29-5%)
Relapsing polychondritisORPHA:728 · Occasional (29-5%)
Renpenning syndromeORPHA:3242 · Occasional (29-5%)
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaORPHA:566243 · Occasional (29-5%)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletionORPHA:353281 · Occasional (29-5%)
Saethre-Chotzen syndromeORPHA:794 · Occasional (29-5%)
Scheie syndromeORPHA:93474 · Occasional (29-5%)
Septo-optic dysplasia spectrumORPHA:3157 · Occasional (29-5%)
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeORPHA:488627 · Occasional (29-5%)
Sheehan syndromeORPHA:91355 · Occasional (29-5%)
Short stature-brachydactyly-obesity-global developmental delay syndromeORPHA:464288 · Occasional (29-5%)
SLC35A2-CDGORPHA:356961 · Occasional (29-5%)
Smith-Lemli-Opitz syndromeORPHA:818 · Occasional (29-5%)
Spinal muscular atrophy-progressive myoclonic epilepsy syndromeORPHA:2590 · Occasional (29-5%)
Stiff skin syndromeORPHA:2833 · Occasional (29-5%)
Thrombocytopenia-absent radius syndromeORPHA:3320 · Occasional (29-5%)
Triple A syndromeORPHA:869 · Occasional (29-5%)
Vici syndromeORPHA:1493 · Occasional (29-5%)
White-Sutton syndromeORPHA:468678 · Occasional (29-5%)
Worster-Drought syndromeORPHA:3465 · Occasional (29-5%)
X-linked alpha-thalassemia-intellectual disability syndromeORPHA:847 · Occasional (29-5%)
X-linked Charcot-Marie-Tooth disease type 2ORPHA:101076 · Occasional (29-5%)
X-linked Charcot-Marie-Tooth disease type 6ORPHA:352675 · Occasional (29-5%)
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeORPHA:459070 · Occasional (29-5%)
Adult-onset autosomal dominant leukodystrophyORPHA:99027 · Very rare (<4-1%)
Aminoacylase 1 deficiencyORPHA:137754 · Very rare (<4-1%)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2ORPHA:99947 · Very rare (<4-1%)
Autosomal recessive spastic paraplegia type 27ORPHA:101007 · Very rare (<4-1%)
Autosomal recessive spastic paraplegia type 5AORPHA:100986 · Very rare (<4-1%)
Chronic neurovisceral acid sphingomyelinase deficiencyORPHA:618891 · Very rare (<4-1%)
Congenital hydrocephalusORPHA:2185 · Very rare (<4-1%)
Congenital myasthenic syndromeORPHA:590 · Very rare (<4-1%)
Familial hemophagocytic lymphohistiocytosisORPHA:540 · Very rare (<4-1%)
Familial thyroid dyshormonogenesisORPHA:95716 · Very rare (<4-1%)
Galactokinase deficiencyORPHA:79237 · Very rare (<4-1%)
Koolen-De Vries syndromeORPHA:96169 · Very rare (<4-1%)
Maternal uniparental disomy of chromosome 4 syndromeORPHA:96180 · 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%)
Mucolipidosis type IIORPHA:576 · Very rare (<4-1%)
Mucolipidosis type III alpha/betaORPHA:423461 · Very rare (<4-1%)
Myopathy and diabetes mellitusORPHA:2596 · Very rare (<4-1%)
Presynaptic congenital myasthenic syndromeORPHA:98914 · Very rare (<4-1%)
Purine nucleoside phosphorylase deficiencyORPHA:760 · Very rare (<4-1%)
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeORPHA:480864 · Very rare (<4-1%)
Rubinstein-Taybi syndrome due to CREBBP mutationsORPHA:353277 · Very rare (<4-1%)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyORPHA:353284 · Very rare (<4-1%)
TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndromeORPHA:488632 · Very rare (<4-1%)
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndromeORPHA:466943 · Very rare (<4-1%)
X-linked dominant chondrodysplasia punctataORPHA:35173 · Very rare (<4-1%)
X-linked hypophosphatemiaORPHA:89936 · Very rare (<4-1%)
Zimmermann-Laband syndromeORPHA:3473 · Very rare (<4-1%)
Idiopathic bilateral vestibulopathyORPHA:171684 · Excluded (0%)
Keratoderma hereditarium mutilans with ichthyosisORPHA:79395 · Excluded (0%)
Mild phosphoribosylpyrophosphate synthetase superactivityORPHA:411536 · Excluded (0%)