Gene: Naglu MGI:1351641

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Naglu (2 diseases)
Human diseases predicted to be associated with Naglu (1548 diseases)

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		Paresthesia, Sensory ataxia, Distal sensory impairment	OMIM:616491
Mucopolysaccharidosis, Type Iiib		Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Diarrhea, Heparan sulfate excretion in urine,...	OMIM:252920

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

Disease	Matching phenotypes	Source
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit...	ORPHA:90646
Deafness, X-Linked 2	Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil...	OMIM:304400
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co...	OMIM:128980
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy	Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st...	OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas...	ORPHA:3232
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ...	OMIM:303110
Conductive Deafness-Malformed External Ear Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:3216
Xq21 Microdeletion Syndrome	Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,...	ORPHA:1435
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn...	OMIM:609129
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa...	OMIM:616515
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal	OMIM:618013
Liberfarb Syndrome	Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti...	OMIM:618889
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula...	OMIM:600791
Usher Syndrome Type 1	Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Apl...	ORPHA:231169
Porphyria, Acute Intermittent	Dysuria, Paralytic ileus, Constipation, Abdominal pain, Depression, Anxiety, Elevated urinary del...	OMIM:176000
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hearing impairment, Cerebral atrophy, Cerebellar atrophy	OMIM:619090
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	Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy	ORPHA:1513
Cochleosaccular Degeneration-Cataract Syndrome	Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu...	OMIM:611584
Deafness, X-Linked 6	Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment	OMIM:300914
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Inability to walk, Gastroesophageal reflux, Sparse hair, Feeding difficulties, Small for ...	OMIM:617799
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration, Ataxia	OMIM:271250
Smith-Magenis Syndrome	EEG abnormality, Retinal detachment, Impaired pain sensation, Morphological abnormality of the mi...	OMIM:182290
Acute Intermittent Porphyria	Dark urine, Dysuria, Ileus, Constipation, Abdominal distention, Abdominal pain, Pseudobulbar para...	ORPHA:79276
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment	OMIM:184460
Leishmaniasis	Hepatomegaly, Splenomegaly, Pallor, Anorexia, Leukopenia, Papule, Abnormal macrophage morphology,...	ORPHA:507
Mohr-Tranebjaerg Syndrome	Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ...	ORPHA:52368
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hepatomegaly, Abdominal distention, Increased hepatic glycogen content, Cirrho...	ORPHA:369
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded...	ORPHA:79113
Pendred Syndrome	Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th...	ORPHA:705
Symphalangism, Proximal, 1A	Stapes ankylosis, Conductive hearing impairment	OMIM:185800
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Brain atrophy, Cerebral atrophy, Pneumonia	ORPHA:85179
Crouzon Syndrome	Conductive hearing impairment, Cerebellar hypoplasia, Optic atrophy, Chiari malformation, Narrow ...	ORPHA:207
Branchiogenic Deafness Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:50815
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Usher Syndrome Type 3	Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Iris hypopigmentation, Abnorma...	ORPHA:231183
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ...	ORPHA:976
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower...	ORPHA:95433
Adiposis Dolorosa	Abdominal distention, Constipation, Depression, Anxiety, Obesity	OMIM:103200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Hepatosplenomegaly, Diarrhea, T lymphocytopenia, Elevate...	ORPHA:79124
Optic Atrophy 8	Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Prolonged soma...	OMIM:616648
Ceroid Lipofuscinosis, Neuronal, 7	Ataxia, EEG abnormality, Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy...	OMIM:610951
Branchiootic Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext...	ORPHA:52429
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment	OMIM:172500
Kearns-Sayre Syndrome	Hearing impairment, Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia	ORPHA:480
Deafness, Autosomal Dominant 77	Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear	OMIM:618915
Oculopharyngodistal Myopathy 3	Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Pigmentary retinopathy	OMIM:619473
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal ...	OMIM:125250
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Polycystic liver dis...	ORPHA:2924
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Alopecia, Erythema, Dry skin, Skin plaque, Skin ulcer, Abnormal lymph...	ORPHA:2584
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Abnormality of visual...	ORPHA:320401
Septopreoptic Holoprosencephaly	Impulsivity, Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Dysphagia,...	ORPHA:280195
Cofs Syndrome	Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormality of retinal pigmentation,...	ORPHA:1466
Reticular Dysgenesis	Failure to thrive, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, Skin ulcer, Anemia	ORPHA:33355
Bohring-Opitz Syndrome	Cholelithiasis, Happy demeanor, Naevus flammeus of the eyelid, Annular pancreas, Inability to wal...	ORPHA:97297
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Branchiootorenal Syndrome 1	Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana...	OMIM:113650
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Peroxisomal Acyl-Coa Oxidase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Low-set ears, Bilateral sensorineural ...	OMIM:264470
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Erythema, Papule, Indurated nodule, Annular cutaneous lesio...	ORPHA:542592
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po...	OMIM:601382
Intestinal Dysmotility Syndrome	Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Dec...	OMIM:620045
Papular Xanthoma	Histiocytosis, Eruptive xanthomas, Skin plaque	ORPHA:158008
Canavan Disease	Abnormality of retinal pigmentation, EEG abnormality, Abnormality of visual evoked potentials, Op...	ORPHA:141
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis...	ORPHA:90003
Free Sialic Acid Storage Disease	Ataxia, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Athetosis, Gait disturbance, Proteinuria,...	ORPHA:834
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Retinal thinning, Asteroid hyalosis	OMIM:132450
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Constipation, Dysmetria, Dysdiadochokinesis, Recurrent urinary tract infections, Urinary ...	ORPHA:99027
Narp Syndrome	Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic...	ORPHA:644
Retinitis Pigmentosa	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat...	ORPHA:791
Deafness, Autosomal Dominant 9	Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali...	OMIM:601369
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnutrition...	OMIM:613662
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Erythematous macule, Erythematous papule	ORPHA:158025
Fatal Familial Insomnia	Ataxia, Constipation, Urinary retention, Dysphagia, Weight loss	OMIM:600072
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Inability to walk, Hepatomegaly, Constipation, Splenom...	OMIM:257200
Ramon Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentation	ORPHA:3019
Porphyria Due To Ala Dehydratase Deficiency	Apathy, Abnormal fear/anxiety-related behavior, Constipation, Abdominal distention, Abdominal pai...	ORPHA:100924
Bor Syndrome	Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex...	ORPHA:107
Foix-Alajouanine Syndrome	Gait imbalance, Bowel incontinence, Functional abnormality of the bladder, Urinary retention, Dif...	ORPHA:79093
Spinocerebellar Ataxia 48	Ataxia, Dysmetria, Depression, Cachexia, Anxiety, Gait ataxia, Cerebellar atrophy, Dysphagia, Irr...	OMIM:618093
Leber Congenital Amaurosis	Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/...	ORPHA:65
Atresia Of External Auditory Canal And Conductive Deafness	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	OMIM:108760
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear	OMIM:615706
Spinocerebellar Ataxia, Autosomal Recessive 29	Ataxia, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, ...	OMIM:619389
Microcephaly-Cardiomyopathy Syndrome	Abnormality of the outer ear, Abnormality of retinal pigmentation	ORPHA:2515
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ...	ORPHA:93110
Autosomal Dominant Optic Atrophy Plus Syndrome	Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Abnormality of vis...	ORPHA:1215
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Ataxia, Abnormality of retinal pigmentation, Cerebellar hypoplasia	ORPHA:2246
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Ataxia, Abnormal renal medulla morphology, Nephronophthis...	OMIM:609583
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Dracunculiasis	Diarrhea, Subcutaneous nodule, Skin ulcer, Nausea and vomiting, Recurrent cutaneous abscess forma...	ORPHA:231
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Distal sensory impa...	OMIM:601455
Visceral Myopathy 1	Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Urinary ret...	OMIM:155310
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment	OMIM:605192
Oculoauriculovertebral Spectrum With Radial Defects	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os...	ORPHA:2549
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Ataxia, Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy	ORPHA:1178
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro...	OMIM:618500
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Sensorineural hearing impairment, Blue sclerae, Premature graying of hair, Heterochromia iridis	ORPHA:66633
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment, Impaired vibratory sensation	OMIM:610738
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an...	ORPHA:848
Distal Monosomy 10Q	Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati...	ORPHA:96148
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of th...	ORPHA:2585
Usher Syndrome, Type Iv	Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio...	OMIM:618144
Coach Syndrome 2	Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Cerebellar ve...	OMIM:619111
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Constipation, Abnormality of the peritoneum, Urinary retention, Weight loss	ORPHA:2126
Coach Syndrome 3	Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit...	OMIM:619113
Achondroplasia	Conductive hearing impairment, Recurrent otitis media	OMIM:100800
Isolated Agammaglobulinemia	Failure to thrive, Diarrhea, Abnormal lymphocyte morphology, Abnormality of neutrophils, Skin ulc...	ORPHA:229717
Mevalonic Aciduria	Blue sclerae, Ataxia, Cerebral cortical atrophy, Low-set, posteriorly rotated ears	ORPHA:29
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, ...	OMIM:619260
Severe Generalized Junctional Epidermolysis Bullosa	Constipation, Alopecia, Ureteral obstruction, Vomiting, Urinary retention, Gastrointestinal infla...	ORPHA:79404
Ring Chromosome 14 Syndrome	Low-set ears, Pigmentary retinopathy	OMIM:616606
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Chiari malfor...	ORPHA:93262
Cleft Velum	Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media	ORPHA:99772
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment	ORPHA:3246
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari...	ORPHA:87884
Slc35A2-Cdg	Inability to walk, Gastroesophageal reflux, Transient nephrotic syndrome, Feeding difficulties, N...	ORPHA:356961
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Chorioretinal coloboma, Macrotia	ORPHA:921
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Cryoglobulinemic Vasculitis	Petechiae, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Hematuria, Glomerulopathy...	ORPHA:91138
Retinitis Pigmentosa 36	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:610599
Botulism	Constipation, Abdominal pain, Diarrhea, Urinary retention, Dysphagia, Nausea and vomiting	ORPHA:1267
Treacher Collins Syndrome 3	Conductive hearing impairment, Abnormality of the outer ear, Microtia	OMIM:248390
Benign Cephalic Histiocytosis	Histiocytosis, Papule	ORPHA:157997
Diprosopus	External ear malformation, Abnormality of retinal pigmentation	ORPHA:1681
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Abdominal distention, Difficulty walking, Cerebellar atrophy, Irritability	ORPHA:79097
Branchiogenic-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen...	OMIM:609166
Foodborne Botulism	Constipation, Abdominal pain, Diarrhea, Urinary retention, Dysphagia, Nausea and vomiting	ORPHA:228371
X-Linked Agammaglobulinemia	Failure to thrive, Alopecia, Hepatitis, Weight loss, Chronic diarrhea, Neutropenia, Skin ulcer, A...	ORPHA:47
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Skin ulcer, Jaundice, Failure to thriv...	ORPHA:231226
Joubert Syndrome 10	Feeding difficulties in infancy, Hirsutism, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:300804
Juvenile Hyaline Fibromatosis	Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Abnormal hair morphology	ORPHA:2028
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia	OMIM:248910
Pendred Syndrome	Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Leber Congenital Amaurosis 1	Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F...	OMIM:204000
Deafness, Autosomal Dominant 80	Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab...	OMIM:619274
Diabetes And Deafness, Maternally Inherited	Sensorineural hearing impairment, Retinal degeneration, Pigmentary retinopathy, Vestibular dysfun...	OMIM:520000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Abdominal distention, Abdominal pain, Small intestinal dysmotility, Cirr...	ORPHA:298
Adrenomyeloneuropathy	Urinary bladder sphincter dysfunction, Adrenocorticotropic hormone excess, Frontal balding, Urina...	ORPHA:139399
Spastic Paraplegia 9B, Autosomal Recessive	Gait disturbance, Urinary retention, Pseudobulbar paralysis	OMIM:616586
Cockayne Syndrome Type 3	Hepatomegaly, Gastroesophageal reflux, Feeding difficulties, Splenomegaly, Unilateral renal agene...	ORPHA:90324
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Hirsutism, Abnormality of the urethra, Urinary retention, Urinary incontinence	ORPHA:2795
Proliferating Trichilemmal Cyst	Skin ulcer, Epidermoid cyst, Sparse scalp hair	ORPHA:492
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath...	OMIM:617519
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media	OMIM:221320
Neurodegeneration With Brain Iron Accumulation 2A	Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Decreased nerve conduction vel...	OMIM:256600
Amoebiasis Due To Free-Living Amoebae	Abnormal cerebellum morphology, Abnormal pons morphology, Ataxia, Abnormal hypothalamus morpholog...	ORPHA:68
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Low-set, posteriorly rotated ears, Ab...	ORPHA:1390
Leber Congenital Amaurosis 13	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:612712
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso...	ORPHA:231214
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula...	ORPHA:59181
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Congenital Pancreatic Cyst	Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting, Jaundice	ORPHA:313906
Juvenile Huntington Disease	Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Depression, G...	ORPHA:248111
Adult Polyglucosan Body Disease	Urinary bladder sphincter dysfunction, Ataxia, Gait disturbance, Skin ulcer, Neurogenic bladder, ...	ORPHA:206583
Orofaciodigital Syndrome Vi	Conductive hearing impairment, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Low-set ears...	OMIM:277170
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract...	OMIM:551500
Inhalational Botulism	Nausea and vomiting, Urinary retention, Diarrhea, Constipation	ORPHA:254504
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Multiple Synostoses Syndrome 1	Conductive hearing impairment, Progressive conductive hearing impairment, Bilateral conductive he...	OMIM:186500
Central Areolar Choroidal Dystrophy	Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi...	ORPHA:75377
Prolidase Deficiency	Failure to thrive, Petechiae, Hepatomegaly, Splenomegaly, Facial hirsutism, Elevated circulating ...	OMIM:170100
Branchiootic Syndrome 1	Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern...	OMIM:602588
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Abdominal distention, Vomiting, Abdominal colic	ORPHA:35122
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Chronic rhinitis, Recurrent pneumonia, Recurrent otitis media, Bro...	OMIM:616726
Treacher Collins Syndrome 4	Conductive hearing impairment	OMIM:618939
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv...	ORPHA:231222
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Erythematous papule, Skin ulcer, Weigh...	ORPHA:86884
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Abdominal distention	OMIM:174050
Trehalase Deficiency	Diarrhea, Abdominal distention, Vomiting, Abdominal pain	ORPHA:103909
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Sensorineural hearing impairment, Conductive hearing impairment, Low-set ears, Optic atrophy	OMIM:618672
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Aspiration pneumonia, Optic atrophy, Hea...	OMIM:619057
Wolman Disease	Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic failure, Cachexia, Malnutrition, Anemia...	ORPHA:75233
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Cerebellar hypoplasia,...	OMIM:251270
Neonatal Adrenoleukodystrophy	Sensorineural hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Low-set, ...	ORPHA:44
Hereditary Spherocytosis	Cholelithiasis, Ataxia, Hepatomegaly, Abdominal distention, Spherocytosis, Splenomegaly, Pallor, ...	ORPHA:822
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Galactose Epimerase Deficiency	Hepatomegaly, Aminoaciduria, Feeding difficulties, Splenomegaly, Nausea and vomiting, Weight loss...	ORPHA:79238
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Sensorineural hearing impairment, Abnormality of retinal pigmentation, Cerebellar atrophy	ORPHA:3085
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Low-set ears	OMIM:614701
Non-Epidermolytic Palmoplantar Keratoderma	Skin ulcer, Erythema, Papule	ORPHA:2337
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Overfolded helix, Cupped ear, Cerebellar atrophy, Blue sclerae, Low-set ears	OMIM:617101
Apert Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Morphological abnormality of the...	ORPHA:87
Liver Failure, Infantile, Transient	Hepatomegaly, 3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Acute hepatic fai...	OMIM:613070
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Blue sclerae, Low-set ears, High-frequency sensorineural hearing impairment	ORPHA:2324
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Iridocyclitis, Chronic active hepatitis, Chronic oral c...	OMIM:240300
Mantle Cell Lymphoma	Anorexia, Weight loss, Splenomegaly	ORPHA:52416
Takayasu Arteritis	Anorexia, Weight loss, Subcutaneous nodule, Skin ulcer, Gastrointestinal infarctions, Anemia	ORPHA:3287
Wound Botulism	Dysphagia, Urinary retention, Constipation	ORPHA:178475
Flynn-Aird Syndrome	Ataxia, Alopecia, Cachexia, Skin ulcer, Dermal atrophy	ORPHA:2047
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Cutaneous abscess, Pyoderma gangrenosum	OMIM:619986
Leigh Syndrome With Leukodystrophy	Optic atrophy, Hearing impairment, Progressive cerebellar ataxia, Pigmentary retinopathy	ORPHA:255241
Acrocraniofacial Dysostosis	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:949
Iatrogenic Botulism	Dysphagia, Urinary retention, Constipation	ORPHA:254509
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Skin ulcer, Acral ulceration, Gait disturbance	ORPHA:139578
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ...	OMIM:618528
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Dandy-Walker malformation, Multicystic kidney dysplasia, Abnor...	ORPHA:3032
Acrogeria	Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Fine hair, Thin skin, Skin ulcer	ORPHA:2500
Meckel Syndrome 13	Ataxia, Polycystic kidney dysplasia, Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:617562
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo...	ORPHA:897
Rhabdoid Tumor	Neoplasm of the liver, Abdominal pain, Renal neoplasm, Nausea and vomiting, Hematuria, Weight los...	ORPHA:69077
Dermatofibrosarcoma Protuberans	Skin ulcer, Erythema, Subcutaneous nodule	ORPHA:31112
Myopathy, Congenital, Bailey-Bloch	Conductive hearing impairment, Low-set ears	OMIM:255995
Zechi-Ceide Syndrome	Conductive hearing impairment, Abnormal helix morphology, Microtia, Stenosis of the external audi...	ORPHA:217017
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Ataxia, Multicystic kidney dysplasia, Recurrent urinary t...	OMIM:618161
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Ataxia, Nephronophthisis, Dilated fourth ventricle, Cereb...	OMIM:610688
Treacher Collins Syndrome 2	Conductive hearing impairment, Microtia	OMIM:613717
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Low-set ears	OMIM:616910
Rhyns Syndrome	Conductive hearing impairment, Decreased response to growth hormone stimulation test, Rod-cone dy...	OMIM:602152
X-Linked Retinal Dysplasia	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia	ORPHA:1852
Spinocerebellar Ataxia 7	Progressive cerebellar ataxia, Macular degeneration, Dysmetria, Pigmentary retinopathy, Olivopont...	OMIM:164500
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis	OMIM:617127
Choroideremia	Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at...	OMIM:303100
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Chronic otitis media, Chronic sinusitis, Bronchiectasis, Rhinitis,...	OMIM:618063
Polyarteritis Nodosa	Abdominal pain, Abnormality of the kidney, Erythema, Subcutaneous nodule, Skin ulcer, Weight loss	ORPHA:767
Middle Ear Neuroendocrine Tumor	Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin...	ORPHA:100084
Craniopharyngioma	Enlarged pituitary gland, Abnormal hypothalamus morphology, Papilledema, Hypopituitarism, Optic a...	ORPHA:54595
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Limb dysmetria, Hearing impairment, Pigmentary retinopathy	ORPHA:329336
Familial Drusen	Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig...	ORPHA:75376
Zika Virus Disease	Absent foveal reflex, Skin rash, Retinal pigment epithelial mottling, Maculopapular exanthema, Ma...	ORPHA:448237
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Dilated fourth ventricle, Cerebellar hypoplasia, Malformation of the hep...	OMIM:614175
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Abnormality of visual evoked potentials, Positive Romb...	OMIM:601152
Charcot-Marie-Tooth Disease, Type 4C	Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa...	OMIM:601596
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Ataxia, Pigmentary retinopathy, Retinal dystrophy, Cerebe...	OMIM:608629
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Sensorineural hearing impairment, Ataxia, Dysmetria, Truncal ataxia, Optic atrophy, Undetectable ...	OMIM:601338
Persistent Placoid Maculopathy	Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme...	ORPHA:97341
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Abnormal helix morphology	ORPHA:1259
Abcd Syndrome	Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a...	OMIM:600501
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp...	OMIM:619858
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Blue sclerae, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum	ORPHA:2772
Schinzel-Giedion Syndrome	Large earlobe, Cerebral cortical atrophy, Abnormal helix morphology, Infantile sensorineural hear...	ORPHA:798
Congenital Toxoplasmosis	Hearing impairment, Abnormality of retinal pigmentation	ORPHA:858
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransferase concentr...	OMIM:278000
Peroxisomal Acyl-Coa Oxidase Deficiency	Sensorineural hearing impairment, EEG abnormality, Abnormality of visual evoked potentials, Optic...	ORPHA:2971
Familial Expansile Osteolysis	Conductive hearing impairment	OMIM:174810
Joubert Syndrome 36	Highly arched eyebrow, Molar tooth sign on MRI	OMIM:618763
Chilblain Lupus	Skin ulcer, Chronic myelomonocytic leukemia, Erythematous papule	ORPHA:90280
Aplasia Cutis Congenita	Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin	ORPHA:1114
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc...	OMIM:609136
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Protruding ear, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Aplasia/Hypoplasi...	ORPHA:2518
Klippel-Feil Syndrome 2, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology	OMIM:214300
Camurati-Engelmann Disease	Slender build, Ataxia, Hepatomegaly, Splenomegaly, Anorexia, Cachexia, Leukopenia, Feeding diffic...	ORPHA:1328
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine	OMIM:616868
Coach Syndrome 1	Ataxia, Hepatomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Nephronophthisis, Unilateral r...	OMIM:216360
Sepsis In Premature Infants	Hepatomegaly, Diarrhea, Vomiting, Reversible renal failure, Gastrointestinal dysmotility, Jaundic...	ORPHA:90051
Giant Cell Arteritis	Ataxia, Abdominal pain, Hepatic failure, Depression, Anorexia, Alopecia, Hematuria, Renal insuffi...	ORPHA:397
Vici Syndrome	Sensorineural hearing impairment, Cerebral cortical atrophy, Abnormality of retinal pigmentation,...	ORPHA:1493
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Ataxia, Abnormal brainstem morphology, Cerebellar vermis hypoplas...	ORPHA:1532
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Blue sclerae, Low-set ears, Cerebral atrophy, Cerebellar atrophy	OMIM:619286
Krabbe Disease	Abnormal flash visual evoked potentials, EEG abnormality, Decreased nerve conduction velocity, Ne...	OMIM:245200
Otofaciocervical Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte...	ORPHA:2792
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Ataxia, Abnormality of retinal pigmentation	ORPHA:2579
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Constipation, Abdominal distention, Dry skin, Large for gestational age, Feeding difficulties in ...	ORPHA:226313
Adult Krabbe Disease	Broad-based gait, Abnormal pons morphology, Ataxia, Abnormal medulla oblongata morphology, Gait d...	ORPHA:206448
Central Diabetes Insipidus	Failure to thrive, Depression, Anorexia, Anxiety, Nocturia, Diarrhea, Weight loss, Nausea and vom...	ORPHA:178029
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Aplasia...	ORPHA:2715
Progeroid Facial Appearance With Hand Anomalies	Conductive hearing impairment, Protruding ear	OMIM:602249
Lateral Meningocele Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os...	ORPHA:2789
Micro Syndrome	Abnormal cerebellum morphology, Cerebral cortical atrophy, Abnormality of retinal pigmentation, R...	ORPHA:2510
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613809
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Weight loss, Jaundice, Feeding difficulties, Abnormal urine ...	ORPHA:275761
Acrodermatitis Enteropathica	Failure to thrive, Abnormal eyebrow morphology, Alopecia, Anorexia, Erythema, Dry skin, Chronic d...	ORPHA:37
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov...	ORPHA:85128
Prolidase Deficiency	Hirsutism, Generalized hirsutism, Hepatomegaly, Low anterior hairline, Splenomegaly, Erythema, Dr...	ORPHA:742
Hereditary Sensory And Autonomic Neuropathy Type 1	Gait imbalance, Inability to walk, Gastroesophageal reflux, Skin ulcer, Penetrating foot ulcers, ...	ORPHA:36386
Autosomal Recessive Spastic Paraplegia Type 9B	Spastic gait, Urinary retention, Pollakisuria, Tip-toe gait	ORPHA:447760
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia	OMIM:300946
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:615990
Stargardt Disease	Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig...	ORPHA:827
Marshall-Smith Syndrome	Optic atrophy, Conductive hearing impairment, Cerebellar hypoplasia, Blue sclerae	ORPHA:561
Toxic Epidermal Necrolysis	Dysuria, Macule, Pancreatitis, Abdominal pain, Acute hepatic failure, Abnormality of the urethra,...	ORPHA:537
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Undetecta...	ORPHA:436245
Gorham-Stout Disease	Hearing impairment, Osteomyelitis, Chiari type I malformation, Abnormality of the internal audito...	ORPHA:73
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Dysphagia, Skin ulcer, Nausea and vomiting, Hypopigmented skin patches	ORPHA:220402
Joubert Syndrome 25	Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Juvenile Paget Disease	Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar vermis hypoplasi...	ORPHA:163961
Deafness And Myopia	Conductive hearing impairment, Profound hearing impairment	OMIM:221200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Truncal ataxia, Gait ataxia, Macrotia, Blue sclerae, Hearing im...	OMIM:616817
Craniometaphyseal Dysplasia	Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n...	ORPHA:1522
Joubert Syndrome 20	Renal cyst, Molar tooth sign on MRI, Aggressive behavior, Self-mutilation	OMIM:614970
Wilson Disease	Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Depression, Cirrhosis, Acute hepa...	ORPHA:905
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Lichen Planopilaris	Alopecia, Papule, Hepatitis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy	ORPHA:525
Duplication Of The Pituitary Gland	Abnormality of the pituitary gland, Hearing impairment, Congenital stationary night blindness, Ab...	ORPHA:314621
Schimke Immunoosseous Dysplasia	Macule, Nephrotic syndrome, Hypermelanotic macule, Lymphopenia, Neutropenia, Small for gestationa...	OMIM:242900
Hemifacial Microsomia With Radial Defects	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:141400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dysgenesis of the cerebellar vermis, Abnormal cerebellum morphology, Renal cortical cysts, Feedin...	ORPHA:397715
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Griscelli Syndrome, Type 2	Silver-gray hair, Hepatosplenomegaly, Melanin pigment aggregation in hair shafts, Hemophagocytosis	OMIM:607624
Christianson Syndrome	Conspicuously happy disposition, Gastroesophageal reflux, Thick eyebrow, Cachexia, Aplasia/Hypopl...	ORPHA:85278
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Colitis, Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia, Py...	OMIM:604416
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Otofaciocervical Syndrome 1	Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea	OMIM:166780
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, A...	OMIM:150550
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Low-set ears, Interhypothalamic Adhesion, Posteriorly rotated ears, Thickened helices	OMIM:618929
Fanconi-Bickel Syndrome	Failure to thrive, Renal tubular acidosis, Hepatomegaly, Abdominal distention, Hepatic failure, I...	ORPHA:2088
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Hypermelanotic macule, Pancreatitis, Nephrotic range proteinuria, Lymphopenia,...	ORPHA:1830
Pgm3-Cdg	Failure to thrive, Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia ...	ORPHA:443811
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Aminoaciduria, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Gait ataxia...	OMIM:612075
Microscopic Polyangiitis	Pancreatitis, Abdominal pain, Peritonitis, Diarrhea, Erythema, Hematuria, Glomerulopathy, Oliguri...	ORPHA:727
Joubert Syndrome 37	Hepatomegaly, Sparse hair, Micropenis, Cerebellar vermis hypoplasia, Hydronephrosis, Obesity, Mol...	OMIM:619185
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ileus, Hepatomegaly, Abdominal distention, Abdominal pain, Cachexia, Ab...	ORPHA:83469
Ollier Disease	Skin ulcer, Anemia, Subcutaneous nodule	ORPHA:296
Multicentric Reticulohistiocytosis	Histiocytosis, Cachexia, Skin nodule	ORPHA:139436
Non-Functioning Paraganglioma	Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Hypertensive retino...	ORPHA:94080
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Hypertelorism-Microtia-Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	ORPHA:2213
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment	OMIM:216300
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Hepatomegaly, Poor suck, Abnormal esophagus physiology, Dysphagia, Gastr...	ORPHA:2198
Huntington Disease	Gait imbalance, Apathy, Inability to walk, Depression, Anxiety, Decreased body mass index, Hostil...	ORPHA:399
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:133705
Isolated Congenital Hypoglossia/Aglossia	Gastrostomy tube feeding in infancy, Weight loss, Nasogastric tube feeding in infancy, Feeding di...	ORPHA:141152
Joubert Syndrome 32	Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Ataxia	OMIM:617757
Mevalonic Aciduria	Ataxia, Progressive cerebellar ataxia, Cerebral atrophy, Skin rash, Attenuation of retinal blood ...	OMIM:610377
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, M...	ORPHA:794
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Poor appetite	ORPHA:312
Lateral Meningocele Syndrome	Conductive hearing impairment, Abnormality of the middle ear ossicles, Low-set ears, Posteriorly ...	OMIM:130720
Acrocraniofacial Dysostosis	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab...	OMIM:201050
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret...	OMIM:180210
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse...	OMIM:609913
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Xq12-Q13.3 Duplication Syndrome	Cleft earlobe, Eczema, Abnormality of visual evoked potentials, Optic disc pallor, Anterior creas...	ORPHA:314389
Lead Poisoning	Renal tubular dysfunction, Abdominal cramps, Chronic kidney disease, Constipation, Abdominal dist...	ORPHA:330015
Stickler Syndrome, Type I	Sensorineural hearing impairment, Conductive hearing impairment, Membranous vitreous appearance, ...	OMIM:108300
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Recurrent infection of the gastrointestinal tract, Abdominal pain, Eosinophilia, Mon...	ORPHA:486
Leber Congenital Amaurosis 2	Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph...	OMIM:204100
Aural Atresia, Congenital	Atresia of the external auditory canal, Conductive hearing impairment	OMIM:607842
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia	OMIM:251800
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Nail dystrophy	OMIM:221810
Mucopolysaccharidosis Type 3	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa...	ORPHA:581
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia	ORPHA:398156
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Failure to thrive, Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainste...	ORPHA:255182
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Skin ulcer, Papule	ORPHA:409
Dyskeratosis Congenita	Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Skin ulcer, Hypermelanotic macule, Splenome...	ORPHA:1775
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral cortical atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Cerebellar ...	OMIM:617802
Joubert Syndrome With Renal Defect	Ataxia, Feeding difficulties, Highly arched eyebrow, Nephropathy, Gait disturbance, Cerebellar ve...	ORPHA:220497
Pelizaeus-Merzbacher Disease	Ataxia, Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy, Choreo...	ORPHA:702
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Abdominal distention, Abdominal pain, Alopecia, Depression, Anxiety, D...	OMIM:212750
Acrocephalopolydactyly	Hepatosplenomegaly, Protuberant abdomen, Abnormal renal morphology	ORPHA:221054
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Central heterochro...	OMIM:275400
Arthrogryposis, Distal, Type 5	Protruding ear, Abnormality of retinal pigmentation	OMIM:108145
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Diffuse cerebellar atrophy, EEG abnormality, Cerebral atrophy, Abnorma...	ORPHA:480898
Colonic Atresia	Abdominal distention	OMIM:303650
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Cerebellar vermis hypoplasia, Gait ataxia, Blue sclerae, Low-set ears	OMIM:619383
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Cerebellar cyst, Conductive hearing impairment	OMIM:601076
Acute Transverse Myelitis	Urinary bladder sphincter dysfunction, Paralytic ileus, Constipation, Abscess, Gait disturbance, ...	ORPHA:139417
Parkes Weber Syndrome	Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Erythematous plaque, Sc...	ORPHA:90307
Tenosynovial Giant Cell Tumor	Abnormality of the tympanic membrane, Conductive hearing impairment, Abnormality of the auditory ...	ORPHA:66627
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Abnormal antihelix morphology, Conductive hearing impairment	ORPHA:3145
Leigh Syndrome	Sensorineural hearing impairment, Optic atrophy, Ataxia, Pigmentary retinopathy	OMIM:256000
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea	ORPHA:103907
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Blue sclerae, Protruding ear, Cerebral atrophy	OMIM:615539
Charcot-Marie-Tooth Disease Type 1F	Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop...	ORPHA:101085
Thyroid Hemiagenesis	Constipation, Abdominal distention, Jaundice	ORPHA:95719
Charcot-Marie-Tooth Disease, Axonal, Type 2V	Paresthesia, Sensory ataxia, Distal sensory impairment	OMIM:616491
Idiopathic Achalasia	Dysphagia, Weight loss, Gastroesophageal reflux, Malnutrition	ORPHA:930
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia of the bladder, Aplasia cutis congenita on trunk or limbs, Abdominal distention, Skin ero...	ORPHA:158684
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Abdominal distention, Diarrhea, Hematuria, Vomiting, Renal in...	ORPHA:35710
Glucose/Galactose Malabsorption	Failure to thrive, Abdominal distention, Glycosuria, Chronic diarrhea, Hyperactive bowel sounds	OMIM:606824
Metachromatic Leukodystrophy, Late Infantile Form	Abdominal distention, Tip-toe gait, Cholecystitis, Feeding difficulties in infancy, Gait ataxia, ...	ORPHA:309256
Oculocerebrodental Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ...	ORPHA:557003
Joubert Syndrome 7	Ataxia, Nephronophthisis, Renal cyst, Molar tooth sign on MRI, Brainstem dysplasia, Stage 5 chron...	OMIM:611560
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Athetosis, Cerebellar ve...	ORPHA:357058
Acrootoocular Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Hyperpigmented nevi, Decreased r...	ORPHA:2980
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Dysplastic corpus callosum, Abdominal distention, Hepatomegaly, Hypochromic mi...	OMIM:619423
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Cerebellar ...	OMIM:268020
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Sensorineural hearing impairment, Narcolepsy, Ataxia, Optic atrophy, Cerebellar atrophy	OMIM:604121
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Osteogenesis Imperfecta, Type Xiii	Blue sclerae, Protruding ear	OMIM:614856
Infantile Myofibromatosis	Neoplasm of the pancreas, Abnormality of the kidney, Intestinal obstruction, Subcutaneous nodule,...	ORPHA:2591
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Abnormality of...	ORPHA:2822
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti...	OMIM:608104
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Gastroesophageal reflux, Abdominal distention, Diffuse mesangial s...	OMIM:256300
Achromatopsia	Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati...	ORPHA:49382
Letterer-Siwe Disease	Abdominal distention, Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice...	OMIM:246400
Congenital Rubella Syndrome	Sensorineural hearing impairment, Abnormality of retinal pigmentation, Skin rash	ORPHA:290
Diastrophic Dysplasia	Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Blue sclerae, Hearing impairment	ORPHA:628
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment	ORPHA:1997
Immunodeficiency 91 And Hyperinflammation	Failure to thrive, Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepati...	OMIM:619644
Congenital Hypothyroidism	Nephrolithiasis, Constipation, Abdominal distention, Depression, Anxiety, Anterior hypopituitaris...	ORPHA:442
Craniosynostosis And Dental Anomalies	Conductive hearing impairment, Stapes ankylosis, Papilledema, Absent malleus, Chronic otitis medi...	OMIM:614188
White Forelock With Malformations	Blue sclerae, White forelock, Low-set, posteriorly rotated ears	ORPHA:2475
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Chronic Hiccup	Depression, Weight loss, Malnutrition	ORPHA:396
Postaxial Acrofacial Dysostosis	Conductive hearing impairment, Abnormality of the middle ear, Microtia, Cupped ear, Low-set, post...	ORPHA:246
Desbuquois Syndrome	Blue sclerae, Low-set, posteriorly rotated ears	ORPHA:1425
Gaucher Disease, Type Ii	Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Dysphagia, Anemia, Thrombocy...	OMIM:230900
Pulmonary Blastoma	Weight loss	ORPHA:64741
Primary Hepatic Neuroendocrine Carcinoma	Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Episodic ab...	ORPHA:100085
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Frontonasal Dysplasia 1	Conductive hearing impairment, Low-set ears	OMIM:136760
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura, Thin skin	ORPHA:743
Joubert Syndrome 15	Ataxia, Molar tooth sign on MRI, Nephronophthisis, Micropenis	OMIM:614464
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Ataxia, Abnormality of pattern visual evoked potentials, Cerebral atrophy, T2 hypointense thalamu...	ORPHA:1947
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Pediatric Systemic Lupus Erythematosus	Dark urine, Nephrotic syndrome, Lymphopenia, Nephritis, Abdominal pain, Abdominal distention, Alo...	ORPHA:93552
Brachycephaly, Trichomegaly, And Developmental Delay	Overfolded helix, Conductive hearing impairment, Low-set ears, Blue sclerae	OMIM:617412
Retinitis Pigmentosa 30	Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B...	OMIM:607921
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Pigmentary retinopathy, Cerebellar ...	ORPHA:502423
Donohue Syndrome	Hypertrichosis, Hypermelanotic macule, Abdominal distention, Severe failure to thrive, Cholestasi...	OMIM:246200
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Joubert Syndrome 1	Elongated superior cerebellar peduncle, Ataxia, Self-mutilation, Highly arched eyebrow, Nephropat...	OMIM:213300
Atresia Of Small Intestine	Failure to thrive, Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Huntington Disease-Like 2	Apathy, Depression, Anxiety, Weight loss, Irritability	OMIM:606438
Joubert Syndrome 16	Renal cyst, Molar tooth sign on MRI, Dandy-Walker malformation, Nephronophthisis	OMIM:614465
Thyrotoxic Periodic Paralysis	Constipation, Urinary retention, Obesity, Weight loss, Decreased urinary potassium	ORPHA:79102
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pancreatitis, Episodic abdominal pain, Abdominal distention, Anorexia, ...	ORPHA:370348
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, D...	ORPHA:98755
Trisomy 8P	Conductive hearing impairment, Heterochromia iridis, Morphological abnormality of the middle ear,...	ORPHA:264450
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal...	OMIM:614500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d...	OMIM:611040
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Decreased response to growth hormone stimulation test, Optic nerve...	OMIM:609053
Carcinoma Of Esophagus	Dysphagia, Obesity, Weight loss, Gastroesophageal reflux	ORPHA:70482
Joubert Syndrome 30	Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr...	OMIM:617622
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Abnormal antitragus morphology, Apl...	ORPHA:3082
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Weight l...	ORPHA:100024
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment	OMIM:607634
Hodgkin Lymphoma	Ataxia, Hepatomegaly, Splenomegaly, Anorexia, Weight loss	ORPHA:98293
Chromosome 6Pter-P24 Deletion Syndrome	Sensorineural hearing impairment, Pigmentary retinopathy, Blue sclerae, Low-set ears, Posteriorly...	OMIM:612582
Retinitis Pigmentosa 33	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt...	OMIM:610359
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve m...	ORPHA:990
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Ataxia	ORPHA:1861
Mandibulofacial Dysostosis With Alopecia	Conductive hearing impairment, Protruding ear, Microtia, Stenosis of the external auditory canal,...	OMIM:616367
Buerger Disease	Skin ulcer	ORPHA:36258
Lennox-Gastaut Syndrome	Personality disorder, Abnormal brainstem morphology, Aggressive behavior, Falls	ORPHA:2382
Coffin-Siris Syndrome 6	Conductive hearing impairment, Low-set, posteriorly rotated ears	OMIM:617808
Pontocerebellar Hypoplasia Type 10	Long eyelashes, Abnormal brainstem morphology, Highly arched eyebrow, Irritability	ORPHA:411493
Malakoplakia	Dysuria, Abdominal pain, Diarrhea, Hematuria, Papule, Urinary urgency, Urinary hesitancy, Protein...	ORPHA:556
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Nau...	ORPHA:65682
Congenital Muscular Dystrophy With Intellectual Disability	Abnormal pons morphology, Cerebral cortical atrophy, Cerebellar hypoplasia, Pigmentary retinopath...	ORPHA:370968
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of ...	ORPHA:2316
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Blue sclerae, Bilateral sensorineural hearing impairment	OMIM:605282
Osteogenesis Imperfecta, Type Xiv	Sensorineural hearing impairment, Blue sclerae	OMIM:615066
Osteogenesis Imperfecta, Type Iv	Blue sclerae, Otosclerosis, Hearing impairment	OMIM:166220
Wilson Disease	Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen...	OMIM:277900
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain, Abnormality of the peritoneum	ORPHA:48686
Joubert Syndrome 22	Renal hypoplasia, Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Sensorineural hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduc...	ORPHA:1933
Xq28 (MECP2) duplication	Failure to thrive, Inability to walk, Constipation, Gastroesophageal reflux, Depression, Anxiety,...	DECIPHER:45
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of ...	OMIM:147770
Primary Sjögren Syndrome	Abnormal cerebellum morphology, Chronic active hepatitis, Lymphopenia, Depression, Abnormality of...	ORPHA:289390
Arima Syndrome	Ataxia, Hepatomegaly, Renal tubular atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Nephron...	OMIM:243910
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Blue sclerae, Hearing impairment	ORPHA:93359
Myopathy, Mitochondrial, And Ataxia	Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Pigmentary retinopathy, Truncal ataxia, Dista...	OMIM:617675
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Burn-Mckeown Syndrome	Conductive hearing impairment, Hearing impairment, Protruding ear	OMIM:608572
Alpha-Mannosidosis, Adult Form	Ataxia, Cerebral cortical atrophy, Mixed hearing impairment, Optic disc pallor, Cerebellar atroph...	ORPHA:309288
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Decreased nerve conducti...	ORPHA:206443
Chromosome 18Q Deletion Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Decreased response to growth hor...	OMIM:601808
Cooper-Jabs Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Abnormality of the middle ...	ORPHA:1488
Xeroderma Pigmentosum, Complementation Group B	Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Pigmentary retinop...	OMIM:610651
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Feeding difficulties, Abdominal pa...	OMIM:615688
Posterior Column Ataxia With Retinitis Pigmentosa	Ataxia, Sensory ataxia, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Impaired...	OMIM:609033
Cushing Disease	Abdominal obesity, Sparse scalp hair, Hirsutism, Lymphopenia, Leukocytosis, Depression, Pituitary...	ORPHA:96253
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Atresia of the external auditory canal, Bilateral conductive hearing impairment	ORPHA:2010
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit...	ORPHA:85450
Bietti Crystalline Dystrophy	Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning...	ORPHA:41751
Pyoderma Gangrenosum	Myeloid leukemia, Papule, Inflammation of the large intestine, Atrophic scars, Skin ulcer, Skin v...	ORPHA:48104
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Vomiting, Increased mean platelet volume, Feeding difficulties in infancy, ...	OMIM:300048
Retinitis Pigmentosa 11	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema...	OMIM:600138
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss, Abnormality of the peritoneum	ORPHA:2023
Hypertelorism, Microtia, Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia	OMIM:239800
Congenital Tufting Enteropathy	Failure to thrive, Cholestatic liver disease, Abdominal distention, Vomiting, Chronic diarrhea, W...	ORPHA:92050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sensorineural hearing impairment, Blue sclerae, Cerebellar hypoplasia, Macrotia	ORPHA:391408
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Self-mutilation, Thickened glomerular basement membrane, Proteinuria, Weight loss, ...	OMIM:619487
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss	ORPHA:168816
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion, Retinal degeneration, Cerebral atrophy, Aspiration pneumon...	ORPHA:79264
Infantile Krabbe Disease	Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ...	ORPHA:206436
Aplasia Cutis-Myopia Syndrome	Skin ulcer, Aplasia cutis congenita	ORPHA:1117
Secondary Short Bowel Syndrome	Failure to thrive, Constipation, Enterocolitis, Abdominal distention, Small intestinal dysmotilit...	ORPHA:95427
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Hearing impairment, Pigmentary retinopathy, Ataxia	OMIM:560000
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Smith-Magenis Syndrome	Conductive hearing impairment, EEG abnormality, Retinal detachment, Chronic otitis media, Impaire...	ORPHA:819
Crouzon Syndrome	Keratitis, Conductive hearing impairment, Atresia of the external auditory canal, Optic atrophy, ...	OMIM:123500
Refsum Disease	Sensorineural hearing impairment, Retinopathy, Ataxia, Abnormality of retinal pigmentation	ORPHA:773
Kbg Syndrome	EEG abnormality, Bilateral conductive hearing impairment, Macrotia	ORPHA:2332
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Microtia, Hearing Impairment, And Cleft Palate	Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In...	OMIM:612290
Kaposi Sarcoma	Macule, Hypermelanotic macule, Diarrhea, Abnormality of the spleen, Papule, Skin plaque, Skin nod...	ORPHA:33276
Klippel-Feil Syndrome 1, Autosomal Dominant	Sensorineural hearing impairment, Hearing impairment, Mixed hearing impairment, Conductive hearin...	OMIM:118100
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease, Molar tooth sign on MRI	OMIM:612285
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Usher Syndrome	Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Abnormality of retinal pigme...	ORPHA:886
Braddock Syndrome	Overfolded helix, Blue sclerae, Posteriorly rotated ears	ORPHA:52047
Generalized Eruptive Histiocytosis	Histiocytosis, Erythematous macule, Hypereosinophilia, Erythematous papule, Leukemia	ORPHA:157991
Kniest Dysplasia	Conductive hearing impairment, Retinal detachment, Recurrent otitis media	OMIM:156550
Holocarboxylase Synthetase Deficiency	Ataxia, Alopecia, Anorexia, Organic aciduria, Weight loss, Thrombocytopenia, Nausea and vomiting,...	ORPHA:79242
Diarrhea 12, With Microvillus Atrophy	Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition	OMIM:619445
Cap Polyposis	Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Weight loss	ORPHA:160148
Larsen-Like Syndrome	Conductive hearing impairment, Low-set ears, Recurrent otitis media	OMIM:608545
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