Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Naglu mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Naglu by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hirsutism, Coarse hair, Heparan sulfate excretion in urine, Synophrys, Hepat... OMIM:252920

The table below shows human diseases predicted to be associated to Naglu by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Dysdiadochokinesis, Gait ataxia, Bilateral sensorineural heari... ORPHA:1435
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Dysph... ORPHA:280195
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Micr... OMIM:618889
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Slender build, Malnutrition, Abdominal pain, Abnormal cerebral whit... OMIM:613662
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebral atrophy, Hearing impairment, Cerebellar atrophy, Microcephaly OMIM:619090
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI OMIM:614173
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Iris hypopigmentation, Ataxia, Subcortical cerebral atrophy... ORPHA:231169
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Depression, Abdominal pain, Constipation, Nausea, Hepatocellular carcin... OMIM:176000
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Stenosis of the external auditory canal ORPHA:1513
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Hypoplastic hippocampus, Cerebral atrophy, Pneumonia, Brain atroph... ORPHA:85179
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal atroph... OMIM:303110
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing impairment, EE... OMIM:182290
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Abnormal cerebral white matter morphology, Ataxia, Bradykinesi... ORPHA:248111
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Recurrent gastroenteritis, Decreased proportion... ORPHA:79124
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Acute Intermittent Porphyria
Dysuria, Pseudobulbar paralysis, Depression, Abdominal pain, Constipation, Dark urine, Elevated u... ORPHA:79276
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Malnutrition, Aplasia/Hypo... ORPHA:99027
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Prelingual sensorineural hearing impairment, Global brain atrophy, Absent... ORPHA:52368
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Skin plaque, Weight loss, Anorexia... ORPHA:507
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Abdominal colic, Recu... ORPHA:976
Ravine Syndrome
Ataxia, Anorexia, Decreased body weight, Abnormality of the basal ganglia, Abnormal brainstem mor... ORPHA:99852
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Elevated hepatic transa... ORPHA:369
Bohring-Opitz Syndrome
Inability to walk, Nevus flammeus, Severe failure to thrive, Annular pancreas, Hypoplasia of the ... ORPHA:97297
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, EEG abno... OMIM:610951
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Cerebral cortical atro... ORPHA:1466
Crouzon Disease
Arnold-Chiari malformation, Narrow internal auditory canal, Conductive hearing impairment, Melano... ORPHA:207
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Progressive cerebellar ataxia, Heari... ORPHA:95433
Adiposis Dolorosa
Depression, Constipation, Anxiety, Abdominal distention, Obesity OMIM:103200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Abnorm... OMIM:125250
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia OMIM:172500
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Ves... ORPHA:231183
Ring Chromosome 14 Syndrome
Low-set ears, Microcephaly, Pigmentary retinopathy OMIM:616606
Slc35A2-Cdg
Nasogastric tube feeding, Cerebral white matter atrophy, Abnormal midbrain morphology, Elevated c... ORPHA:356961
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormality of pattern visual evoked potentials, Abnor... OMIM:616648
Kearns-Sayre Syndrome
Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia ORPHA:480
Narp Syndrome
Progressive gait ataxia, Retinal pigment epithelial mottling, Ataxia, Cerebral cortical atrophy, ... ORPHA:644
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Skin plaque, Erythema, Hepatomegaly, Hypopigmented skin patches, ... ORPHA:2584
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neutrophils, Abnormal macrophage morphology,... ORPHA:2585
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Dystonia, Inappropriate crying, Ataxia, Abnormality of t... ORPHA:263410
Autosomal Recessive Spastic Paraplegia Type 9B
Corpus callosum atrophy, Pollakisuria, Abnormal periventricular white matter morphology, Toe walk... ORPHA:447760
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Cirrhosis, Elevated hepatic transaminase, Small intestinal dysmotil... ORPHA:298
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Abnormal auditory evoked p... ORPHA:320401
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Microcephaly, Gait disturbance, Urinary retention OMIM:616586
Abcd Syndrome
Albinism, Aganglionic megacolon, Hypopigmentation of the fundus, Hearing impairment, Abnormal aud... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Amoebiasis Due To Free-Living Amoebae
Intrarenal abscess, Abnormal hypothalamus morphology, Abnormal midbrain morphology, Vomiting, Abn... ORPHA:68
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Necrobiosis Lipoidica
Indurated nodule, Annular cutaneous lesion, Atrophic scars, Skin plaque, Granuloma, Erythema, Pap... ORPHA:542592
Canavan Disease
Abnormality of retinal pigmentation, Hearing impairment, EEG abnormality, Optic atrophy, Abnormal... ORPHA:141
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Abdominal pain, Nausea, Elevated circulating alanine aminot... ORPHA:90003
Papular Xanthoma
Histiocytosis, Skin plaque, Eruptive xanthomas ORPHA:158008
Posterior Urethral Valve
Dysuria, Lethargy, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilate... ORPHA:93110
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation, Abnormality of the outer ear ORPHA:2515
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Feeding difficulties, Hypoplasia of the corpus callosum, Cholestas... OMIM:618528
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Asteroid hyalosis, Retinal thinning OMIM:132450
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Conductive hearing impairment, Sensorineural hearing impairm... ORPHA:791
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Low-set ears, Bilateral sensorineural hearing impairment, Optic atrophy, ... OMIM:264470
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Diarrhea, Anemia, Leukopenia, Failure to thrive, Skin ulcer ORPHA:33355
Ramon Syndrome
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairment ORPHA:3019
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cockayne Syndrome Type 3
Neurogenic bladder, Cerebral white matter atrophy, Premature graying of hair, Hydroureter, Renal ... ORPHA:90324
Huntington Disease-Like 2
Dystonia, Gait disturbance, Caudate atrophy, Weight loss, Cerebral cortical atrophy, Abnormal cer... ORPHA:98934
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar ver... ORPHA:65
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Hereditary Progressive Mucinous Histiocytosis
Erythematous papule, Mucinous histiocytosis, Erythematous macule ORPHA:158025
Flynn-Aird Syndrome
Ataxia, Dermal atrophy, Cerebral cortical atrophy, Cerebral calcification, Cachexia, Alopecia, Sk... ORPHA:2047
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Dysphagia, Ataxia, Urinary incontinence, Cerebellar atrophy, I... OMIM:618093
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Ataxia, Cerebral cortical atrophy, Blue sclerae, Microcephaly ORPHA:29
Fatal Familial Insomnia
Dysphagia, Constipation, Weight loss, Ataxia, Urinary retention OMIM:600072
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Sensorineural hearing impairment, Blue sclerae, Retinal detachment OMIM:184000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineural hearing impa... OMIM:618500
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Depression, Difficulty walking, Apathy, Purple urine, Constipation, ... ORPHA:100924
Distal Monosomy 10Q
Cavum septum pellucidum, Cochlear malformation, Cerebellar hypoplasia, Dilation of lateral ventri... ORPHA:96148
Achondroplasia
Conductive hearing impairment, Recurrent otitis media, Megalencephaly OMIM:100800
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Hepatic fibrosis, Congenital hepatic... OMIM:619111
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Cerebral dysmyelina... ORPHA:139399
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal cerebral white matter morphology, Absent brainstem auditory responses, Sensorineural hea... OMIM:617519
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Stenosis of the external auditory canal, Question mark ear OMIM:615706
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Ataxia, Absent brainst... ORPHA:1215
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Dracunculiasis
Subcutaneous nodule, Recurrent cutaneous abscess formation, Diarrhea, Nausea and vomiting, Skin u... ORPHA:231
Huntington Disease
Dystonia, Decreased body mass index, Weight loss, Aggressive behavior, Apathy, Oral-pharyngeal dy... ORPHA:399
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairment, Decreased ner... OMIM:601455
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Blue sclerae, Heterochromia iridis, Premature graying of hair ORPHA:66633
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Christianson Syndrome
Conspicuously happy disposition, Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Tru... ORPHA:85278
Diprosopus
External ear malformation, Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microcephaly, Microtia OMIM:248910
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Ataxia, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Cerebra... OMIM:619260
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Impaired vibratory sensation OMIM:610738
Isolated Polycystic Liver Disease
Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Polyc... ORPHA:2924
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura... OMIM:618144
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Abnormality of the peritoneum, Neoplasm of the liver, Weight loss, Urinary retention ORPHA:2126
Visceral Myopathy 1
Malnutrition, Megacystis, Abdominal pain, Dysphagia, Constipation, Intestinal pseudo-obstruction,... OMIM:155310
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Pachygyria, Chorioretinal ... OMIM:251270
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Irritability, Anemi... ORPHA:848
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Nephronophthisis, Cerebellar vermis hypoplasia, Ataxia, E... OMIM:609583
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Ataxia, Renal tub... OMIM:619113
Adult Krabbe Disease
Abnormal midbrain morphology, Gait disturbance, Ataxia, Urinary incontinence, Abnormal corpus cal... ORPHA:206448
Niemann-Pick Disease, Type A
Inability to walk, Bone-marrow foam cells, Feeding difficulties in infancy, Microcytic anemia, Pr... OMIM:257200
Severe Generalized Junctional Epidermolysis Bullosa
Skin erosion, Hydroureter, Recurrent urinary tract infections, Duplicated collecting system, Abno... ORPHA:79404
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, Abnormality of visual evoked pot... OMIM:256600
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Chorioretinal coloboma, Sensorineural hearing impairment, Macrotia ORPHA:921
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Conductive hearing impairment, Arnold-Chiari malformation, ... ORPHA:93262
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, White eyebrow, Decreased nerve conduc... OMIM:609136
Cirrhosis, Familial
Micronodular cirrhosis, Lethargy, Increased level of L-fucose in urine, Jaundice, Abdominal diste... OMIM:215600
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Urinary urgency, Cerebral cortical ... ORPHA:314603
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Botulism
Abdominal pain, Dysphagia, Constipation, Urinary retention, Diarrhea, Nausea and vomiting ORPHA:1267
Joubert Syndrome 10
Hirsutism, Feeding difficulties in infancy, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Viral hepat... ORPHA:91138
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Long eyelashes, Irritability, Abnormal brainstem morphology, Simplified gy... ORPHA:411493
Benign Cephalic Histiocytosis
Histiocytosis, Papule ORPHA:157997
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Diarrhea, Recurrent... ORPHA:229717
Foodborne Botulism
Abdominal pain, Dysphagia, Constipation, Urinary retention, Diarrhea, Nausea and vomiting ORPHA:228371
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Nephrotic syn... ORPHA:834
Treacher Collins Syndrome 4
Conductive hearing impairment, Microcephaly OMIM:618939
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:2028
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Hirsutism, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Joubert Syndrome 32
Ataxia, Polymicrogyria, Abnormal cerebellum morphology, Large for gestational age, Molar tooth si... OMIM:617757
Diabetes And Deafness, Maternally Inherited
Vertigo, Vestibular dysfunction, Pigmentary retinopathy, Retinal degeneration, Sensorineural hear... OMIM:520000
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Chronic diarrhea, Weight loss, Anorexia, Emotional lability, Cerebra... ORPHA:37
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... ORPHA:1390
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
X-Linked Agammaglobulinemia
Chronic diarrhea, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutaneous absc... ORPHA:47
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Congenital Pancreatic Cyst
Abdominal pain, Anorexia, Jaundice, Pancreatitis, Vomiting, Abdominal distention ORPHA:313906
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Pigmentary retinopathy, Progressive cerebellar ataxia... ORPHA:255241
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Overfolded helix, Low-set ears, Cupped ear, Cerebellar atrophy, Blue sclerae, Microcephaly OMIM:617101
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Urinary urgency, Cerebellar atrophy, Cerebral cortical atr... OMIM:611390
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Hypoplasia of the corpus callosum, Low-set ears, Sensorineural hea... OMIM:618672
Waardenburg-Shah Syndrome
Hypopigmentation of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, White... ORPHA:897
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Ataxia, Corticospinal tract atrophy, Retinopathy, Rod-cone d... OMIM:551500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Protuberant abdomen, Constipation, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:226313
Multiple Synostoses Syndrome 1
Stapes ankylosis, Progressive conductive hearing impairment OMIM:186500
Joubert Syndrome 22
Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cereb... OMIM:615665
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Hydronephrosis, Agenesis of corpus callosum OMIM:617127
Gaucher Disease, Type Ii
Feeding difficulties, Protuberant abdomen, Dysphagia, Cerebral atrophy, Thrombocytopenia, Hepatom... OMIM:230900
Apert Syndrome
Absent septum pellucidum, Conductive hearing impairment, Morphological abnormality of the semicir... ORPHA:87
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Abnormal cerebral morpholog... OMIM:113650
Joubert Syndrome 1
Self-mutilation, Hypoplasia of the brainstem, Highly arched eyebrow, Aggressive behavior, Brainst... OMIM:213300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Con... ORPHA:949
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Abnormal corpus callo... OMIM:611560
Inhalational Botulism
Nausea and vomiting, Constipation, Urinary retention, Diarrhea ORPHA:254504
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Cerebellar atrophy ORPHA:3085
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Sensorineural hearing imp... ORPHA:44
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Proximal tubulopathy, Extramedullary hemato... ORPHA:231222
Wolman Disease
Bone-marrow foam cells, Malnutrition, Hepatomegaly, Cachexia, Hepatic failure, Splenomegaly, Naus... ORPHA:75233
Meckel Syndrome, Type 10
Anencephaly, Sacral dimple, Renal cyst, Hypospadias, Molar tooth sign on MRI, Micropenis OMIM:614175
Micro Syndrome
Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Macro... ORPHA:2510
Congenital Toxoplasmosis
Hearing impairment, Abnormality of retinal pigmentation, Microcephaly, Cerebral calcification ORPHA:858
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Gait disturbance, Cerebral atrophy, Ataxia OMIM:230600
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Blue sclerae, Microcephaly ORPHA:2772
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Cerebral cortical atro... ORPHA:2518
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Microcephaly, Conductive hearing impairment OMIM:616910
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Erythematous papule, Weight loss, Erythematous plaque, Hepatosplenomegaly, Skin... ORPHA:86884
Prolidase Deficiency
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Petechiae, Facial hirs... OMIM:170100
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Gait disturbance, Ataxia, Urinary inco... ORPHA:206583
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Conductive hearing impairment, Recurrent otitis media, Chronic rhinitis, Recurren... OMIM:616726
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, To... ORPHA:309256
Central Diabetes Insipidus
Lethargy, Depression, Nocturia, Weight loss, Anorexia, Diarrhea, Anxiety, Failure to thrive, Naus... ORPHA:178029
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Iridocyclitis, Perifoveal ring of hyperautofluorescence, Chronic oral candidiasis, Pigm... OMIM:240300
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Protuberant abdomen, Lymphopenia, Elevated circulating thyroi... OMIM:242900
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Thickened superior cerebellar peduncle, Hypoplasia o... OMIM:608091
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Conductive hearing impairment, Cerebellar vermis hypoplasia, Low-set ears... OMIM:277170
Myopathy, Congenital, Bailey-Bloch
Low-set ears, Microcephaly, Conductive hearing impairment OMIM:255995
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Skin ulcer, Erythema ORPHA:2337
Craniopharyngioma
Vertigo, Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary hypot... ORPHA:54595
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Abdominal pain, Reticulocytosis, Extramedull... ORPHA:822
Galactose Epimerase Deficiency
Feeding difficulties, Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly, Nausea an... ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Hearing impairment, Aspiration pneumonia... OMIM:619057
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Elevated hepatic transaminase, Depression, Abdominal pain... OMIM:212750
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dysgenesis of the cerebellar vermis, Renal insufficiency, Dilated third ventricle, Molar tooth si... ORPHA:397715
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia ORPHA:52416
Rhabdoid Tumor
Renal neoplasm, Hematuria, Abdominal pain, Subcutaneous nodule, Neoplasm of the liver, Weight los... ORPHA:69077
Joubert Syndrome 35
Highly arched eyebrow, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, Ataxia, ... OMIM:618161
Wound Botulism
Dysphagia, Constipation, Urinary retention ORPHA:178475
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Hypersplenism, Bone-marrow foam c... OMIM:278000
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Iatrogenic Botulism
Dysphagia, Constipation, Urinary retention ORPHA:254509
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia, Polycystic kidney dysplasia, Ataxia OMIM:617562
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Agenesis of corpus callosum, Ce... ORPHA:1493
Zechi-Ceide Syndrome
Conductive hearing impairment, Cerebellar vermis hypoplasia, Low-set ears, Stenosis of the extern... ORPHA:217017
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Acral ulceration, Skin ulcer ORPHA:139578
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Excessive wrinkled skin, Fine hair, Skin ulcer ORPHA:2500
Takayasu Arteritis
Gastrointestinal infarctions, Subcutaneous nodule, Weight loss, Anorexia, Anemia, Skin ulcer ORPHA:3287
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Feeding difficulties, Renal hypoplasia, Limb ataxia, Apa... ORPHA:135
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyel... ORPHA:101070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Protuberant abdomen, Gait disturbance, Megalencephaly, Curly hair, Capillary malformation, Abnorm... ORPHA:457485
Krabbe Disease
Neurodegeneration, Hearing impairment, EEG abnormality, Diffuse cerebral atrophy, Decreased nerve... OMIM:245200
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Hypsarrhythmia, Hypoplasia of the corpus callosum, Ar... ORPHA:798
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Chorea, Progressive cerebellar ataxia, Olivopontocerebellar atrophy, Dysm... OMIM:164500
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Low-set ears, Blue sclerae, High-frequency sensorineural hearing impairment ORPHA:2324
Dysostosis Multiplex, Ain-Naz Type
Difficulty walking, Thin corpus callosum, Abdominal distention OMIM:619345
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Hypoplasia of the corpus callosum, Constipation, Gast... DECIPHER:45
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Rhyns Syndrome
Anterior hypopituitarism, Conductive hearing impairment, Pituitary hypothyroidism, Rod-cone dystr... OMIM:602152
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Gait ataxia, Truncal ataxia, Macrotia, Hypoplasia of the corpus callosum, Hearing impairment, Sen... OMIM:616817
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Positive Romberg sign, Decreased motor nerve conduction velocity, Abnormality of visual evoked po... OMIM:601152
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Absent inner and outer dynein arms, Chronic otitis... OMIM:618063
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Cerebellar vermis hypoplasia, Low-set ears, Posteriorly rotated ears, Und... ORPHA:163961
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Dermoid cyst, Constipation, Rectal abscess, Urinary retention OMIM:600145
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Emotional lability, Urinary urgency, Abnormal ... OMIM:609195
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Xq12-Q13.3 Duplication Syndrome
Hypsarrhythmia, Hypoplasia of the corpus callosum, Optic disc pallor, Eczema, Impaired pain sensa... ORPHA:314389
Spinocerebellar Ataxia Type 2
Dystonia, Gait ataxia, Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopon... ORPHA:98756
Spastic Paraplegia 35, Autosomal Recessive
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... OMIM:612319
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Hyperreflexia
Microcephaly, Abnormality of retinal pigmentation OMIM:145290
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the pinna OMIM:214300
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Hearing impairment, Limb dysmetria, Pigmentary retinopathy ORPHA:329336
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microcephaly, Atresia of the external auditory canal, Microtia ORPHA:2213
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function, Diarrhea, Anemia, Failure ... OMIM:608104
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Abnormality of the helix ORPHA:1259
Polyarteritis Nodosa
Abdominal pain, Subcutaneous nodule, Weight loss, Erythema, Abnormality of the kidney, Skin ulcer ORPHA:767
Sepsis In Premature Infants
Neutropenia, Jaundice, Decreased liver function, Diarrhea, Small for gestational age, Anemia, Vom... ORPHA:90051
Joubert Syndrome 36
Highly arched eyebrow, Molar tooth sign on MRI OMIM:618763
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Macrotia, Abnormal ret... ORPHA:2715
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Bradykinesia, Weight loss, Irritability, Anxiety OMIM:606438
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Microcephaly, Protruding ear OMIM:602249
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Low-set ears, Cerebellar atrophy, Blue sclerae, Simplified gyral pattern, Micro... OMIM:619286
Chilblain Lupus
Erythematous papule, Chronic myelomonocytic leukemia, Skin ulcer ORPHA:90280
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microcephaly, Lipoma of corpus callosum, Microtia ORPHA:398156
Dyskeratosis Congenita
Premature graying of hair, Cerebral calcification, Anemia, Neoplasm of the pancreas, Cirrhosis, W... ORPHA:1775
Joubert Syndrome 3
Pigmentary retinopathy, Cerebellar vermis hypoplasia, Ataxia, Retinal dystrophy, Low-set ears, El... OMIM:608629
Coach Syndrome 1
Nephronophthisis, Dystonia, Cirrhosis, Elevated hepatic transaminase, Cerebellar vermis hypoplasi... OMIM:216360
Familial Multiple Nevi Flammei
Nevus flammeus, Cerebral calcification, Papule, Hypermelanotic macule, Skin ulcer ORPHA:624
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Alopecia of scalp, Abnormal cerebellum morphology, Abnormal... ORPHA:1532
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Feeding difficulties, Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Fa... OMIM:612075
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Hearing impairment, Congeni... ORPHA:314621
Lysosomal Acid Lipase Deficiency
Xanthelasma, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Abnormal urine potassium c... ORPHA:275761
Giant Cell Arteritis
Hematuria, Depression, Gastrointestinal infarctions, Abdominal pain, Ataxia, Anorexia, Weight los... ORPHA:397
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Pandas
Claustrophobia, Encopresis, Depression, Agoraphobia, Enuresis, Emotional lability, Separation ins... ORPHA:66624
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst, Abdominal distention OMIM:174050
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2789
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Feeding difficulties, Gait disturbance, Cerebellar vermis hypoplasia, Neph... ORPHA:220497
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Macrotia, Attached earlobe, Low-set ears, Patchy atrophy of the retinal pigment epithelium, Undet... ORPHA:436245
Juvenile Paget Disease
Melanocytic nevus, Hearing impairment, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Mevalonic Aciduria
Skin rash, Attenuation of retinal blood vessels, Cerebral atrophy, Ataxia, Low-set ears, Posterio... OMIM:610377
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia OMIM:300946
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormality of the antihelix, Cerebral calcification ORPHA:3145
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Sensorineural hearing impairment, EEG abnormality, Optic atrophy, Abnormality of vi... ORPHA:2971
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cere... ORPHA:77299
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Gait ataxia, Difficulty walking, Cerebellar atrophy, Urinary retention, Failur... ORPHA:99949
Huntington Disease-Like 1
Gait ataxia, Depression, Gait disturbance, Bradykinesia, Weight loss, Cerebral cortical atrophy, ... ORPHA:157941
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Cerebral white matter atrophy, Recurrent urinary tract infections, Hypoperistalsis, A... OMIM:619365
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Pigmentary retinopathy, Ataxia, Sensorineural hearing i... OMIM:256000
Joubert Syndrome 20
Self-mutilation, Molar tooth sign on MRI, Renal cyst, Aggressive behavior OMIM:614970
Congenital Hypothyroidism
Abnormal hair morphology, Depression, Anterior hypopituitarism, Constipation, Prolonged neonatal ... ORPHA:442
Fanconi-Bickel Syndrome
Increased hepatic glycogen content, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular ... ORPHA:2088
Toxic Epidermal Necrolysis
Dysuria, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, A... ORPHA:537
Chilblain Lupus 1
Skin ulcer OMIM:610448
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Arnold-Chiari type I malformation... ORPHA:73
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Abnormal proportion of naive CD4... ORPHA:1830
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Pigmentary retinopathy OMIM:614307
Pelizaeus-Merzbacher Disease
Ataxia, Cerebral cortical atrophy, Hearing impairment, Microcephaly, Optic atrophy, Choreoathetos... ORPHA:702
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy, Cerebellar hypoplasia, Blue sclerae ORPHA:561
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Diffuse cerebellar atrophy, Pollakisuria, Dep... ORPHA:93256
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia, Ataxia OMIM:616781
Prolidase Deficiency
Generalized hirsutism, Low anterior hairline, Thin skin, Hirsutism, Erythema, Hepatomegaly, Recur... ORPHA:742
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Emotional labil... ORPHA:309263
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Protruding ear, Agenesis of corpus callosum, Blue sclerae OMIM:612940
Camurati-Engelmann Disease
Slender build, Ataxia, Anorexia, Hepatomegaly, Splenomegaly, Waddling gait, Urinary retention, Le... ORPHA:1328
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Hepatosplenomegaly, Melanin pigment aggregation in hair shafts OMIM:607624
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo, Diffuse cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Abnormality of t... ORPHA:480898
Wilson Disease
Acute hepatitis, Cirrhosis, Aggressive behavior, Elevated hepatic transaminase, Depression, Diffi... ORPHA:905
Desmoplastic Small Round Cell Tumor
Abdominal pain, Abnormality of the peritoneum, Weight loss, Hepatomegaly, Cachexia, Ileus, Anemia... ORPHA:83469
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Lichen Planopilaris
Dermal atrophy, Hepatitis, Alopecia, Hypopigmented skin patches, Papule, Skin ulcer ORPHA:525
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Nephronophthisis, Cerebellar vermis hypoplasia, Ataxia, H... OMIM:610688
Limited Cutaneous Systemic Sclerosis
Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Nausea and vomiting, Skin ulcer ORPHA:220402
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Low-... ORPHA:794
Japanese Encephalitis
Abnormality of thalamus morphology, Dystonia, Focal T2 hyperintense thalamic lesion, Abnormality ... ORPHA:79139
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thickened helices, Interhypothalamic Adhesion, Low-set ears, Posteriorly rotated ears, Agenesis o... OMIM:618929
Metachromatic Leukodystrophy, Adult Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Difficulty walk... ORPHA:309271
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Skin nodule ORPHA:139436
Zika Virus Disease
Macular atrophy, Skin rash, Congenital intracerebral calcification, Myelitis, Absent foveal refle... ORPHA:448237
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Pyoderma gangrenosum, Sterile abscess, ... OMIM:604416
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia of the corpu... ORPHA:370968
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Conductive hearing impairment, Dysplastic corpus callosum, He... ORPHA:557003
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebella... OMIM:617751
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Paroxysmal vertigo,... ORPHA:94080
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Frontonasal Dysplasia 1
Low-set ears, Lipoma of corpus callosum, Conductive hearing impairment, Agenesis of corpus callosum OMIM:136760
Congenital Rubella Syndrome
Skin rash, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Microcephaly ORPHA:290
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Diarrhea, ... OMIM:150550
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Conductive hearing impairment, Optic nerve... OMIM:609053
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar malformation, Pachygyria, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia,... ORPHA:357058
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebral atrophy, Cerebellar atrophy, Abnormality of the ear, Rod-cone dy... OMIM:268020
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Arnold-Chiari type I malfo... OMIM:130720
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment, Blue sclerae OMIM:616229
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Accessory spleen, Rhombencephalosynapsis, Hypoplasia of the corpus c... OMIM:619306
Erythrokeratodermia Variabilis
Abnormal hair morphology, Weight loss, Erythema, Macule, Alopecia, Generalized hirsutism, Microce... ORPHA:317
Acrocephalopolydactyly
Protuberant abdomen, Abnormal renal morphology, Hepatosplenomegaly ORPHA:221054
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Renal cyst, Microcephaly, Bile duct proliferation... OMIM:611134
Diastrophic Dwarfism
Overfolded helix, Low-set, posteriorly rotated ears, Hearing impairment, Blue sclerae, Cerebral c... ORPHA:628
Pgm3-Cdg
Esophagitis, T lymphocytopenia, Cutaneous abscess, Abnormal CD4:CD8 ratio, Hemolytic anemia, Decr... ORPHA:443811
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Ataxia, Cerebellar atrophy, Sensorineural hearing impairment, ... OMIM:610651
Microscopic Polyangiitis
Peritonitis, Hematuria, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:727
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Weight loss, Anorexia ORPHA:100083
Lead Poisoning
Depression, Abdominal cramps, Abdominal pain, Constipation, Nausea, Anorexia, Abnormal T cell mor... ORPHA:330015
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Pachygyria, Pigmentary retinopathy OMIM:617613
Spinocerebellar Ataxia Type 42
Gait ataxia, Depression, Dysphagia, Urinary incontinence, Urinary urgency, Abnormal cerebellum mo... ORPHA:458803
Dermatoosteolysis, Kirghizian Type
Nail dystrophy, Skin ulcer OMIM:221810
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Protruding ear OMIM:108145
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Oliver-Mcfarlane Syndrome
Central heterochromia, Decreased response to growth hormone stimuation test, Pigmentary retinopat... OMIM:275400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Sensorineural hearing impairment, Cerebral calcification, Decreased nerve conduction velo... ORPHA:1933
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Gerstmann-Straussler Disease
Gait ataxia, Truncal ataxia, Neurofibrillary tangles, Aggressive behavior, Depression, Limb ataxi... OMIM:137440
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment OMIM:616331
Spinocerebellar Ataxia 42
Depression, Spastic ataxia, Dysphagia, Ataxia, Urinary incontinence, Urinary urgency, Loss of Pur... OMIM:616795
Trisomy 8P
Heterochromia iridis, Conductive hearing impairment, Morphological abnormality of the middle ear,... ORPHA:264450
Meckel Syndrome, Type 8
Microcephaly, Abdominal distention, Hyperechogenic kidneys OMIM:613885
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Weight loss, Hepatome... ORPHA:2198
White Forelock With Malformations
Low-set, posteriorly rotated ears, Blue sclerae, White forelock ORPHA:2475
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Dysphagia, Urinary incontinence, Progressive cerebellar ataxia, Cerebellar atrophy, Bow... OMIM:618868
Hyperkeratosis Lenticularis Perstans
Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Ollier Disease
Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Renal tubular atrophy, Small for gestational age, ... OMIM:256300
Pigmented Villonodular Synovitis
Abnormality of the tympanic membrane, Conductive hearing impairment, Abnormality of the auditory ... ORPHA:66627
Acrootoocular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Pseudopapill... ORPHA:2980
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Inertia, Dysphagia, Gait disturbance, Bradykinesia, Progressive cer... ORPHA:98755
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Narrow internal auditory... ORPHA:990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Thyroid Hemiagenesis
Jaundice, Constipation, Abdominal distention ORPHA:95719
Mucopolysaccharidosis Type 3
Thickened helices, Abnormality of the middle ear ossicles, Pigmentary retinopathy, Conductive hea... ORPHA:581
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Irritability, Anemia, Hepatosplenomegaly, Pallor, Abdomi... OMIM:246400
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Weight loss, Hyperactive bowel sounds, Abdominal distention, Diarrhea, F... ORPHA:35710
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Anorexia, Jaundice, Torticollis, Anemia, Pancreatitis, Nausea and vomiting, Neoplasm... ORPHA:370348
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Sparse eyebrow, Sparse hair, Abnormal midbrain morphology, Hypoplasi... ORPHA:444072
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Abdominal pain, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Diarrhea... ORPHA:486
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Skin ulcer, Poor appetite ORPHA:312
Colonic Atresia
Abdominal distention OMIM:303650
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita of scalp, Aplasia cutis congenita, Skin erosion, Atrophic scars, Glomerul... ORPHA:158684
Glucose/Galactose Malabsorption
Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Failure to thrive, Abdominal distention OMIM:606824
Brachycephaly, Trichomegaly, And Developmental Delay
Overfolded helix, Conductive hearing impairment, Low-set ears, Blue sclerae, Microcephaly OMIM:617412
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Parkes Weber Syndrome
Abnormality of the urinary system, Scaling skin, Capillary malformation, Urinary retention, Eryth... ORPHA:90307
Charcot-Marie-Tooth Disease Type 1F
Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibratory sensation, Parest... ORPHA:101085
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... ORPHA:2316
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Blue sclerae OMIM:614856
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cerebellar cyst, Azoospermia, Conductive hearing impairment OMIM:601076
Donohue Syndrome
Long penis, Cholestasis, Hepatic fibrosis, Hypertrichosis, Severe failure to thrive, Hypermelanot... OMIM:246200
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Cerebral atrophy, Blue sclerae, Protruding ear OMIM:615539
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Blue sclerae ORPHA:1425
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... OMIM:147770
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Pigmentary retinopathy, Cerebellar hypoplasia, Progressive cerebellar ataxia,... ORPHA:502423
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Ataxia, Petechiae, Diarrhea, Failure to thrive, Ethylmal... ORPHA:51188
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Na... ORPHA:100085
Pulmonary Blastoma
Weight loss ORPHA:64741
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Macrotia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Sensori... ORPHA:391408
White-Sutton Syndrome
Rod-cone dystrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormality of the outer... OMIM:616364
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly OMIM:614120
Stickler Syndrome, Type I
Membranous vitreous appearance, Conductive hearing impairment, Sensorineural hearing impairment, ... OMIM:108300
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Blue sclerae, Thick corpus c... ORPHA:464288
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microcephaly, Atresia of the external auditory canal, Microtia OMIM:239800
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Infantile Myofibromatosis
Abnormal hair morphology, Subcutaneous nodule, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Abdominal pain, Lymphopenia, Abnormality of the uri... ORPHA:93552
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Chronic Hiccup
Malnutrition, Weight loss, Depression ORPHA:396
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Pigmentary retinopathy, Retinal flecks, Hypoplasia of the corpus ca... ORPHA:100996
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer ORPHA:217390
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Skin ulcer, Aplasia/Hypoplasia of the skin, Purpura ORPHA:743
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Joubert Syndrome 16
Nephronophthisis, Molar tooth sign on MRI, Renal cyst, Dandy-Walker malformation OMIM:614465
Chromosome 18Q Deletion Syndrome
Atopic dermatitis, Macrotia, Conductive hearing impairment, Chorea, Atresia of the external audit... OMIM:601808
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Interictal EEG abnormality, Focal T2 hyperintense tha... ORPHA:79264
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Cupped ear, Microtia, Abnormali... ORPHA:246
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Periventricular leukomalacia OMIM:617808
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Joubert Syndrome 15
Nephronophthisis, Molar tooth sign on MRI, Micropenis, Ataxia OMIM:614464
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Blue sclerae, Bilateral sensorineural hearing impairment OMIM:605282
Hereditary Late-Onset Parkinson Disease
Dystonia, Akinesia, Depression, Spastic/hyperactive bladder, Apathy, Dysphagia, Lewy bodies, Brad... ORPHA:411602
Atresia Of Small Intestine
Vomiting, Failure to thrive, Abdominal distention, Feeding difficulties ORPHA:1201
Agnathia-Otocephaly Complex
Conductive hearing impairment, Synotia, Agenesis of corpus callosum, Abnormality of the outer ear OMIM:202650
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Congenital Disorder Of Glycosylation, Type Iii
Neurogenic bladder, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration af... OMIM:613612
Mu-Heavy Chain Disease
Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, S... ORPHA:100024
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Idiopathic Achalasia
Dysphagia, Malnutrition, Gastroesophageal reflux, Weight loss ORPHA:930
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Hypoplasia of the corpus callosum, Ataxia, Urinary inconti... OMIM:270700
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Retinal detachment OMIM:156550
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Abnormal brainstem morphology, Falls, Hyperactivity ORPHA:2382
Kbg Syndrome
Bilateral conductive hearing impairment, Microcephaly, EEG abnormality, Macrotia ORPHA:2332
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Truncal ataxia, Pigmentary retinopathy, Limb ataxia, Ataxia, Hearing impairme... OMIM:617675
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Abnormality of the antihelix, Aplasia/Hypoplasia of the earlobes, ... ORPHA:3082
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Anorexia, Jaundice, Diarrhea, Episodic vomiting, Leukopenia, Anemia, Apathy, Ataxia,... ORPHA:20
Thyrotoxic Periodic Paralysis
Constipation, Weight loss, Urinary retention, Decreased urinary potassium, Obesity ORPHA:79102
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline brainstem c... OMIM:617542
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Blue sclerae OMIM:166220
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hypointensity of cerebral white matter on MRI, Ab... ORPHA:206436
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:1488
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Ataxia ORPHA:1861
Primary Effusion Lymphoma
Abnormality of the peritoneum, Abdominal distention, Abdominal pain ORPHA:48686
Athyreosis
Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Alpha-Mannosidosis, Adult Form
Pneumonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, M... ORPHA:309288
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Microcephaly, Retinopathy, Ma... ORPHA:816
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Osteogenesis Imperfecta, Type Xiv
Sensorineural hearing impairment, Blue sclerae OMIM:615066
Marburg Hemorrhagic Fever
Lethargy, Hematuria, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, ... ORPHA:99826
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hearing impairment, Blue sclerae ORPHA:93359
Holocarboxylase Synthetase Deficiency
Lethargy, Ataxia, Anorexia, Thrombocytopenia, Weight loss, Irritability, Alopecia, Nausea and vom... ORPHA:79242
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, A... ORPHA:2318
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Intestinal pseudo-obstruction, Thrombocytopenia, Hydronephrosis, ... OMIM:300048
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... OMIM:619383
Burn-Mckeown Syndrome
Conductive hearing impairment, Protruding ear OMIM:608572
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatocellular carcinoma, Chronic diarr... ORPHA:65682
Usher Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Vestibular areflexia, ... ORPHA:886
Hodgkin Lymphoma
Weight loss, Ataxia, Hepatomegaly, Anorexia, Splenomegaly ORPHA:98293
Arima Syndrome
Nephronophthisis, Hypoplasia of the brainstem, Tubulointerstitial fibrosis, Brainstem dysplasia, ... OMIM:243910
Buerger Disease
Skin ulcer ORPHA:36258
Primary Sjögren Syndrome
Depression, Chronic active hepatitis, Purpura, Decreased proportion of CD4-positive helper T cell... ORPHA:289390
Cog5-Cdg
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Elevated hepatic transaminase,... ORPHA:263487
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Dysphagia, Gastrostomy tube feed... ORPHA:300605
Necrotizing Enterocolitis
Peritonitis, Lethargy, Leukocytosis, Neutropenia, Thrombocytopenia, Diarrhea, Small for gestation... ORPHA:391673
Braddock Syndrome
Posteriorly rotated ears, Blue sclerae, Overfolded helix ORPHA:52047
Peritoneal Cystic Mesothelioma
Peritonitis, Abdominal pain, Constipation, Weight loss, Abdominal distention ORPHA:168816
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Low-set ears, Cupped ear, Stenosis of the external auditory canal,... OMIM:616367
X-Linked Acrogigantism
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Enlarged p... ORPHA:300373
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Irritability, Diarrhea, Vomiting ORPHA:30925
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia