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
Impaired vibratory sensation, Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... 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
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... ORPHA:90646
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ... OMIM:303110
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... ORPHA:1435
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Positive Romberg sign,... OMIM:616515
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy, Hearing impairment OMIM:619090
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
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
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Ataxia, Small for gestational age, Poor appetite, Aggressive behavior, Inabil... OMIM:617799
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Porphyria, Acute Intermittent
Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Depression, Paralytic ileus, Constipatio... OMIM:176000
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Enlarged vestibular aqueduct ORPHA:79414
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Usher Syndrome Type 3
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... ORPHA:231183
Acute Intermittent Porphyria
Nausea and vomiting, Restlessness, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria... ORPHA:79276
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... ORPHA:52368
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... ORPHA:369
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Brain atrophy, Pneumonia, Cerebral atrophy ORPHA:85179
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Chiari malformation, Conjunctivitis... ORPHA:207
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... OMIM:616648
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Abdominal colic, Proteinuria, Dysuria, Recurrent urinary tract infections, C... ORPHA:976
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormal... OMIM:610951
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment, Ataxia OMIM:619473
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa... OMIM:125250
Fatal Familial Insomnia
Ataxia, Weight loss, Urinary retention, Constipation, Dysphagia OMIM:600072
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia, Hearing impairment ORPHA:480
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaq... ORPHA:2584
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... OMIM:617879
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Recurrent urinary tract infections, Ataxia, Malnutrition... ORPHA:99027
Reticular Dysgenesis
Abnormality of neutrophils, Diarrhea, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Anemia ORPHA:33355
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Necrobiosis Lipoidica
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous... ORPHA:542592
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Proteinuria, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Atheto... ORPHA:834
Cofs Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Aplasia/Hyp... ORPHA:1466
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... ORPHA:791
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Depression OMIM:103200
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Abdominal distention, Gastrointe... OMIM:613662
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Retinal thinning, Asteroid hyalosis OMIM:132450
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, EEG abnormality, Abnormality of visual evoked... ORPHA:141
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia, Rhombencephalosynap... ORPHA:280195
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ... OMIM:264470
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Ramon Syndrome
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairment ORPHA:3019
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Bohring-Opitz Syndrome
Nephroblastoma, Feeding difficulties in infancy, Inability to walk, Synophrys, Naevus flammeus of... ORPHA:97297
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Bowel incontinence, Unsteady gait, Functional abnormali... ORPHA:79093
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Ataxia, Corpus callosum atrophy, Retinal pigment epithelia... OMIM:619389
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Purple urine, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distenti... ORPHA:100924
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn... ORPHA:1215
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Cerebellar hypoplasia ORPHA:2246
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Urinary retention, Dysphagia ORPHA:1267
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, Cerebral cortical atrophy, EEG with generalized epileptiform disch... OMIM:617976
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Conductive hearing impairment, Cerebral atrophy OMIM:618497
Spastic Paraplegia 9B, Autosomal Recessive
Urinary retention, Pseudobulbar paralysis, Gait disturbance, Urinary incontinence OMIM:616586
Joubert Syndrome 4
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Sta... OMIM:609583
Hereditary Progressive Mucinous Histiocytosis
Erythematous macule, Mucinous histiocytosis, Erythematous papule ORPHA:158025
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/Hypoplasia of the ce... ORPHA:65
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... OMIM:616108
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Abnormality of the outer ear ORPHA:2515
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Urinary retention, Dysphagia ORPHA:228371
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea, Subcutaneous nodule, Skin u... ORPHA:231
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... OMIM:619260
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia, Depression, I... OMIM:618093
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy, Ataxia ORPHA:1178
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Impaired vibratory sensation, Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, Low-set ears OMIM:616606
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Blue sclerae, Heterochromia iridis ORPHA:66633
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... OMIM:618144
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... ORPHA:2585
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... OMIM:617523
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy,... OMIM:256600
Distal Deletion 10Q
Ataxia, Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facia... ORPHA:96148
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto... ORPHA:229717
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Weight loss, Neoplasm of the liver, Urinary retention, Constipation ORPHA:2126
Coach Syndrome 3
Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial ... OMIM:619113
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Portal ... OMIM:619111
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Cache... ORPHA:298
Abruzzo-Erickson Syndrome
Cryptorchidism, Sensorineural hearing impairment, Chorioretinal coloboma, Conductive hearing impa... ORPHA:921
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Blue sclerae, Ataxia, Cerebral cortical atrophy ORPHA:29
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Abdominal distention, Irritability, Difficulty walking ORPHA:79097
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Stage 5 chronic kidney disease, H... OMIM:610688
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Chiari malformation, Conductive hearing impa... ORPHA:93262
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glo... ORPHA:91138
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydronephrosis OMIM:617127
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Skin ulcer, Hepatosplenomeg... ORPHA:231226
Benign Cephalic Histiocytosis
Papule, Histiocytosis ORPHA:157997
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Thrombocytopenia, Chronic diarrhea, Hypopigmente... ORPHA:47
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritabilit... ORPHA:248111
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Weight loss ORPHA:52416
Diabetes And Deafness, Maternally Inherited
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... OMIM:520000
Wound Botulism
Urinary retention, Constipation, Dysphagia ORPHA:178475
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abno... ORPHA:68
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule ORPHA:2028
Slc35A2-Cdg
Elevated hepatic transaminase, Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrai... ORPHA:356961
Iatrogenic Botulism
Urinary retention, Constipation, Dysphagia ORPHA:254509
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism ORPHA:2795
Joubert Syndrome 10
Feeding difficulties in infancy, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hirsutism OMIM:300804
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Adrenomyeloneuropathy
Urinary incontinence, Frontal balding, Bowel incontinence, Fine hair, Urinary urgency, Adrenocort... ORPHA:139399
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Adult Polyglucosan Body Disease
Neurogenic bladder, Ataxia, Urinary incontinence, Skin ulcer, Gait disturbance, Urinary bladder s... ORPHA:206583
Proliferating Trichilemmal Cyst
Sparse scalp hair, Epidermoid cyst, Skin ulcer ORPHA:492
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Renal insufficiency, Neurogenic bladder, H... ORPHA:90324
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Takayasu Arteritis
Anorexia, Subcutaneous nodule, Skin ulcer, Weight loss, Gastrointestinal infarctions, Anemia ORPHA:3287
Leber Congenital Amaurosis 1
Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Atte... OMIM:204000
Prolidase Deficiency
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid... OMIM:170100
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Polycystic liver disease, Renal cyst OMIM:174050
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... ORPHA:1390
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears OMIM:618672
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Inhalational Botulism
Nausea and vomiting, Diarrhea, Constipation, Urinary retention ORPHA:254504
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... OMIM:616726
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... OMIM:186500
Joubert Syndrome 20
Aggressive behavior, Inability to walk, Renal cyst, Molar tooth sign on MRI, Self-mutilation OMIM:614970
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Toxic Epidermal Necrolysis
Macule, Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Elevated hepatic... ORPHA:537
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Sensorineural hearing im... ORPHA:3085
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Stage 5 chronic kidney disease, Late... OMIM:608629
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Aspiration pneumonia, Hea... OMIM:619057
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Enur... ORPHA:66624
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Ami... ORPHA:79238
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Hemophagocytosis, Erythematous ... ORPHA:86884
Joubert Syndrome 18
Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Intrahepatic biliary atresia, Molar ... OMIM:614815
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... ORPHA:75233
Diprosopus
External ear malformation, Abnormality of retinal pigmentation ORPHA:1681
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... ORPHA:822
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... ORPHA:44
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Skin ulcer, Dermal atrophy ORPHA:2047
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Acral ulceration, Skin ulcer ORPHA:139578
Apert Syndrome
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Chiari m... ORPHA:87
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Cryptorchidism, Low-set ears OMIM:616910
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears OMIM:614701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... OMIM:240300
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
High-frequency sensorineural hearing impairment, Blue sclerae, Low-set ears ORPHA:2324
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Limited Cutaneous Systemic Sclerosis
Nausea and vomiting, Hypopigmented skin patches, Skin ulcer, Gastroesophageal reflux, Dysphagia ORPHA:220402
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Thrombocytopenia, Subcutaneou... ORPHA:69077
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Cachexia, Feeding difficulties in infancy, Splenom... ORPHA:1328
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia, Polycystic kidney dysplasia OMIM:617562
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Weight loss, Gastr... ORPHA:2198
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin ORPHA:2500
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Joubert Syndrome 35
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Ataxia, Recurrent urinary tract infec... OMIM:618161
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Papular Xanthoma
Skin plaque, Eruptive xanthomas, Histiocytosis ORPHA:158008
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Ataxia, Aganglionic megacolon, Short-segmen... OMIM:609136
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Blue sclerae, Aplasia/Hypoplasia of the cerebe... ORPHA:2772
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysmetria, Gait ataxia, Undetectable vis... OMIM:601338
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Zechi-Ceide Syndrome
Cerebellar vermis hypoplasia, Abnormal earlobe morphology, Microtia, Abnormal helix morphology, L... ORPHA:217017
Polyarteritis Nodosa
Abnormality of the kidney, Abdominal pain, Erythema, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:767
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Limb dysmetria, Hearing impairment ORPHA:329336
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Cupped ear, Limb ataxia, Blue sclerae, Low-set ears, Truncal ataxia, Overfolded helix, Cerebellar... OMIM:617101
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Spinocerebellar Ataxia 7
Chorea, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary... OMIM:164500
Idiopathic Achalasia
Weight loss, Malnutrition, Gastroesophageal reflux, Dysphagia ORPHA:930
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... ORPHA:2789
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Sepsis In Premature Infants
Gastrointestinal dysmotility, Vomiting, Pallor, Neutropenia, Hepatomegaly, Leukocytosis, Oliguria... ORPHA:90051
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi... ORPHA:2971
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chr... OMIM:619858
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Recurrent pneumonia, Hypsarrhythmia, Chiari typ... ORPHA:798
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology OMIM:214300
Joubert Syndrome 36
Molar tooth sign on MRI, Highly arched eyebrow OMIM:618763
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hearing impairment ORPHA:858
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Vertigo, Pituitary hyp... ORPHA:54595
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Chilblain Lupus
Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Giant Cell Arteritis
Alopecia, Renal insufficiency, Ataxia, Anorexia, Abdominal pain, Skin ulcer, Depression, Hematuri... ORPHA:397
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Cerebral atrophy, Blue sclerae, Low-set ears OMIM:619286
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... ORPHA:2792
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Conductive hearing impairment, Chro... OMIM:618063
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Poor appetite, Anorexia, Erythema, Chro... ORPHA:37
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... OMIM:216360
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Abnormal helix morphology ORPHA:1259
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... OMIM:602152
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Low ant... ORPHA:742
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Vomiting, Dysphagia... ORPHA:363717
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, Gastroesophageal reflux, G... ORPHA:36386
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, Ret... OMIM:551500
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla... ORPHA:2510
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Sensorineural hearing impairment, Gait ataxia, Blue sclerae, Truncal ataxia, Macr... OMIM:616817
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... ORPHA:275761
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... ORPHA:1532
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Pyoderma gangrenosum, Neutropenia, B lym... OMIM:150550
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Protruding ear, Aplasia/Hypoplasia of the cer... ORPHA:2518
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Azoospermia, Focal T2 hy... OMIM:613724
Lichen Planopilaris
Alopecia, Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule ORPHA:525
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Tip-toe gait, Urinary retention, Spastic gait ORPHA:447760
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... ORPHA:2715
Marshall-Smith Syndrome
Conductive hearing impairment, Blue sclerae, Optic atrophy, Cerebellar hypoplasia ORPHA:561
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Posteriorly rotated ears, Cryptorchidism, Interhypothalamic adhesion, Low-set ears, Thickened hel... OMIM:618929
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Gorham-Stout Disease
Chiari type I malformation, Osteomyelitis, Abnormality of the internal auditory canal, Hearing im... ORPHA:73
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Depression, Weight loss, Polydipsia, Failure to thrive, ... ORPHA:178029
Vici Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the pons, Sensorineural hearing impairment, Op... ORPHA:1493
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo, Cond... ORPHA:94080
Meckel Syndrome, Type 10
Dilated fourth ventricle, Sacral dimple, Hypospadias, Malformation of the hepatic ductal plate, R... OMIM:614175
Saethre-Chotzen Syndrome
Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural hearing impairm... ORPHA:794
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Undetectable visual... ORPHA:436245
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Abnormal superior cerebellar peduncle morphology, ... ORPHA:370348
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Redundant neck skin, Cerebellar vermis hypoplasia, Gastroesophageal reflux, Molar tooth sign on M... ORPHA:397715
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Colitis, Thrombocytosi... OMIM:604416
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Hypermelanotic macule, Microscopic hematuria, Minimal change glom... ORPHA:1830
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Undetectab... ORPHA:163961
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Pyoderma gangren... ORPHA:486
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Abdominal ... ORPHA:727
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Congenital stationary night blindness, Abnormal pituitary gland... ORPHA:314621
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... ORPHA:83469
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Dep... ORPHA:399
Griscelli Syndrome, Type 2
Silver-gray hair, Hemophagocytosis, Melanin pigment aggregation in hair shafts, Hepatosplenomegaly OMIM:607624
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... ORPHA:443811
Mevalonic Aciduria
Cerebellar atrophy, Optic disc pallor, Agenesis of cerebellar vermis, Posteriorly rotated ears, A... OMIM:610377
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Gait ataxia, Feeding difficulties, Weight loss, Aminoaciduria, Proximal tubul... OMIM:612075
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Senso... OMIM:620155
Ollier Disease
Anemia, Subcutaneous nodule, Skin ulcer ORPHA:296
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Chronic Hiccup
Weight loss, Depression, Malnutrition, Abnormal eating behavior ORPHA:396
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy, Hearing impairment ORPHA:2801
Lead Poisoning
Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease... ORPHA:330015
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding di... ORPHA:141152
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Obesity, Hydronephrosis, Sparse hair, Micropenis, Mol... OMIM:619185
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac... ORPHA:1775
Christianson Syndrome
Cerebellar atrophy, Cachexia, Feeding difficulties in infancy, Truncal ataxia, Gait ataxia, Gastr... ORPHA:85278
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia, Histiocytosis ORPHA:139436
Chilblain Lupus 1
Skin ulcer OMIM:610448
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Skin ulcer, Weight loss ORPHA:312
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Eczema, Impaired pain sensation, Cryptorchidism, Anterior creases of earlobe, ... ORPHA:314389
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Arima Syndrome
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,... OMIM:243910
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Thromboc... ORPHA:905
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia, Large for gestational age OMIM:617757
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Low-set ears, Inte... OMIM:617802
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Failure to thrive, Elevated circulating aspartate aminotransfera... ORPHA:2088
Stickler Syndrome, Type I
Retinal detachment, Sensorineural hearing impairment, Osteoarthritis, Arthritis, Vitreoretinopath... OMIM:108300
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Azoospermia, Cerebellar cyst OMIM:601076
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cerebellar vermis hypoplasia, Optic atrophy, Gait ataxia, Blue sclerae, Low-set ears OMIM:619383
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology ORPHA:3145
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Abnormality of the urethra, Scarring ... ORPHA:158684
Acrocephalopolydactyly
Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Failure to thrive, Abnormal brainstem morphology, Abnormal cerebellu... ORPHA:255182
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Athetosis, Blue sclerae, Cerebell... ORPHA:357058
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles... ORPHA:95427
Oliver-Mcfarlane Syndrome
Central heterochromia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pig... OMIM:275400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Unilateral cryptorchidism, Atresia of the external audit... OMIM:300946
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal... ORPHA:480898
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Acral... OMIM:256810
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Choreoathetosis, Abnormality of visual evoked potentials, Cerebral cortica... ORPHA:702
Coffin-Siris Syndrome 6
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617808
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Ataxia, Thickened helices, Abnormality of the middle ear ossicles, Sens... ORPHA:581
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ur... ORPHA:206448
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph... ORPHA:35710
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Parkes Weber Syndrome
Skin ulcer, Nephrotic syndrome, Erythematous plaque, Abnormality of the urinary system, Urinary r... ORPHA:90307
Letterer-Siwe Disease
Abdominal distention, Jaundice, Thrombocytopenia, Hepatosplenomegaly, Irritability, Pallor, Neutr... OMIM:246400
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Failure to thrive OMIM:606824
Joubert Syndrome With Renal Defect
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Feeding difficu... ORPHA:220497
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinop... ORPHA:3363
Schimke Immunoosseous Dysplasia
Macule, Waddling gait, Pancytopenia, Renal insufficiency, Proteinuria, Hypermelanotic macule, Sma... OMIM:242900
Joubert Syndrome 1
Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Highly arched eyebrow, ... OMIM:213300
Laryngeal Neuroendocrine Tumor
Weight loss, Adrenocorticotropic hormone excess, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Ataxia, Renal arter... OMIM:615688
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Cryptorchidism, Large earlobe, Blue sclerae, Overfolded helix,... ORPHA:628
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Ataxia, Abdominal pain, Abdominal dis... OMIM:212750
Pulmonary Blastoma
Weight loss ORPHA:64741
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal thalamus morphology, He... ORPHA:557003
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Chiari type I m... OMIM:130720
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Abnormal hair morpho... ORPHA:2591
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Cholestasis, Vomiting, Decreased ... OMIM:608104
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Hyperpigmented nevi, Sensorineural hearing... ORPHA:2980
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Constipation, P... ORPHA:226313
Leber Congenital Amaurosis 2
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... OMIM:204100
Acute Transverse Myelitis
Gastroparesis, Abscess, Urinary incontinence, Paralytic ileus, Constipation, Gait disturbance, Ur... ORPHA:139417
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Constipation ORPHA:95719
Joubert Syndrome 7
Ataxia, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the brains... OMIM:611560
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer ORPHA:217390
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Multiple lentigines, Abnorma... ORPHA:66627
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, T2 hypointen... ORPHA:1947
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Abdominal distention, Dysplastic corpus callosum, Hypochromic microcytic anemia, Fa... OMIM:619423
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold, Protruding ear OMIM:108145
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Wilson Disease
Acute hepatic failure, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anemia, Hepatomegaly... OMIM:277900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal antit... ORPHA:3082
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Trisomy 8P
Posteriorly rotated ears, Cryptorchidism, Aplasia/Hypoplasia of the tragus, Blue sclerae, Conduct... ORPHA:264450
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... ORPHA:51890
Osteogenesis Imperfecta, Type Xix
Blue sclerae, Hearing impairment OMIM:301014
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Abnormality of the ear, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dy... OMIM:268020
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Atrophy of the spinal cord, Abnormality of pattern visual evoked... ORPHA:2822
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Leigh Syndrome
Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:256000
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progres... ORPHA:309256
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Chorea, Sensorineural hear... OMIM:601808
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Blue sclerae ORPHA:1425
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Anorexia, Weight loss ORPHA:86893
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Overfolded helix, Blue sclerae, Low-set ears OMIM:617412
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali... ORPHA:246
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Blue sclerae,... OMIM:612582
White Forelock With Malformations
Low-set, posteriorly rotated ears, Blue sclerae, White forelock ORPHA:2475
Pediatric Systemic Lupus Erythematosus
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Dia... ORPHA:93552
Acute Radiation Syndrome
Diarrhea, Skin ulcer, Vomiting, Dermal atrophy, Scaling skin, Granulocytopenia, Lymphopenia, Thro... ORPHA:454831
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Blue sclerae, Cerebral atrophy, Protruding ear OMIM:615539
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears OMIM:136760
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Papilledema, Absent malleus, Chiari malformation, Conductive hearing impairment... OMIM:614188
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Dysmetria, Progressive cerebellar ataxia, Dysdiad... ORPHA:502423
Donohue Syndrome
Hypermelanotic macule, Abdominal distention, Long penis, Cholestasis, Pancreatic islet-cell hyper... OMIM:246200
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain ORPHA:48686
Developmental And Epileptic Encephalopathy 28
Blue sclerae, Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation, Renal cyst, Nephronophthisis OMIM:614465
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Small Bowel Atresia
Abdominal distention, Failure to thrive, Vomiting, Feeding difficulties ORPHA:1201
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Oliguria, Skin ulcer, Gastroesophageal reflux, Dysphagi... ORPHA:220393
Cleft Velum
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia ORPHA:99772
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Vertigo, Chorea, Athetosis, Thalamic calcification OMIM:615483
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Buerger Disease
Skin ulcer ORPHA:36258
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Hypopigmented skin patches, Ga... ORPHA:457485
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Constipation ORPHA:79102
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment OMIM:234580
Joubert Syndrome 30
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Ataxia, Pneumonia, Subcortical c... ORPHA:309288
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Chiari malformatio... OMIM:609053
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Skin rash ORPHA:290
Osteogenesis Imperfecta, Type Xiv
Sensorineural hearing impairment, Blue sclerae OMIM:615066
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Reynolds Syndrome
Hepatomegaly, Jaundice, Skin ulcer, Gastroesophageal reflux, Cirrhosis, Dysphagia ORPHA:779
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropa... ORPHA:100024
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Abnormal pons... ORPHA:370968
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Malakoplakia
Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Diarrhea, Subcutaneous nodule... ORPHA:556
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Atresia of the external auditory ca... ORPHA:1488
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Ataxia ORPHA:1861
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Renal hypoplasia OMIM:615665
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Highly arched eyebrow, Renal... OMIM:614424
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Thrombocytosis, ... OMIM:209950
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Abnormality of vis... ORPHA:1933
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Irritability, Cholestati... ORPHA:92050
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Gastroparesi... ORPHA:85443
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Myopathy, Mitochondrial, And Ataxia
Ataxia, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary retinopathy, Dysdiadochokin... OMIM:617675
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Blue sclerae, Hearing impairment OMIM:166220
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly, Ataxia OMIM:617767
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Japanese Encephalitis
Neutrophilia, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Abdom... ORPHA:79139
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Irritability, Long eyelashes, Highly arched eyebrow ORPHA:411493
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... OMIM:300048
Smith-Magenis Syndrome
Retinal detachment, Impaired pain sensation, EEG abnormality, Conductive hearing impairment, Chro... ORPHA:819
Kbg Syndrome
Cryptorchidism, Macrotia, Bilateral conductive hearing impairment, EEG abnormality ORPHA:2332
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Temtamy Preaxial Brachydactyly Syndrome
Blue sclerae, Optic atrophy, Bilateral sensorineural hearing impairment OMIM:605282
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, Myeloid leukemia, ... ORPHA:48104
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Synotia, Narrow internal... ORPHA:990
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior ORPHA:2382
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropathy, Nausea, Decreased g... ORPHA:85450
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Johnson Neuroectodermal Syndrome
Facial palsy, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of the external audi... ORPHA:2316
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Joubert Syndrome 15
Molar tooth sign on MRI, Micropenis, Ataxia, Nephronophthisis OMIM:614464
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Preauricular pit, Sacral dimple, Large for gestational age, Protuberant abdomen, Nephroblastoma, ... OMIM:618272
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Inability to walk, Functional abnormality of the bladder, Depres... DECIPHER:45
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Feeding difficulties, Lateral ventricle dilatation, Dysgenesis of the cerebellar ver... OMIM:619479
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Sensorineural hearing impairment, Blue sclerae, Eczema ORPHA:464288
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Macrotia, Blue sclerae, Cerebellar hypoplasia, Sensorineural hearing impairment ORPHA:391408
Mullegama-Klein-Martinez Syndrome
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... OMIM:301022
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:118100
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Pigmentary r... ORPHA:79264
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Cereb... OMIM:611209