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
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 Similarity of
phenotypes
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
Isolated Cleft Lip