Gene Summary

Name:
USH1 protein network component harmonin
Synonyms:
harmonin,  2010016F01Rik,  Usher syndrome 1C

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Ush1ctm1a(KOMP)Wtsi HOM Early adult 4.58×10-13
absent pinna reflex Ush1ctm1a(KOMP)Wtsi HOM Early adult 4.66×10-21
decreased total body fat amount Ush1ctm1a(KOMP)Wtsi HOM Early adult 5.74×10-08
limb grasping Ush1ctm1a(KOMP)Wtsi HOM Early adult 2.72×10-05
impaired righting response Ush1ctm1a(KOMP)Wtsi HOM Early adult 2.82×10-23
increased circulating sodium level Ush1ctm1a(KOMP)Wtsi HOM   Early adult 5.44×10-05
trunk curl Ush1ctm1a(KOMP)Wtsi HOM Early adult 5.59×10-19
increased bone mineral content Ush1ctm1a(KOMP)Wtsi HOM Early adult 3.88×10-07
increased red blood cell distribution width Ush1ctm1a(KOMP)Wtsi HOM Early adult 7.32×10-08
decreased circulating amylase level Ush1ctm1a(KOMP)Wtsi HOM Early adult 1.07×10-06
decreased grip strength Ush1ctm1a(KOMP)Wtsi HOM Early adult 5.14×10-12
stereotypic behavior Ush1ctm1a(KOMP)Wtsi HOM Early adult 2.82×10-23
increased food intake Ush1ctm1a(KOMP)Wtsi HOM   Early adult 6.27×10-07
increased lean body mass Ush1ctm1a(KOMP)Wtsi HOM Early adult 5.36×10-08
increased circulating chloride level Ush1ctm1a(KOMP)Wtsi HOM Early adult 4.17×10-07
decreased circulating glucose level Ush1ctm1a(KOMP)Wtsi HOM Early adult 7.85×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Histopathology

Images

4 Images

Legacy Phenotype Associated Images

View all 85 images

Human diseases caused by Ush1c 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 Ush1c by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ush1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Jejunal Atresia
Jejunal atresia OMIM:243600
Diarrhea 9
Villous atrophy OMIM:618168
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223100
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Spastic paraple... ORPHA:101007
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski ... OMIM:614322
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Ataxia, Increased neuronal autofluorescent lipopigment, A... OMIM:204500
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder OMIM:300830
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia, Hearing impairment OMIM:159800
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer ORPHA:401911
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Retinal degeneration, Ataxia, Increased neuronal autofluorescent l... OMIM:256731
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Gait ataxia, Spasticity, Hearing impairment, Tremor ORPHA:217012
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor, Hypsarrhythmia OMIM:619561
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, EEG abnormality, Retinal degeneration, Ataxia, Increased neuronal autofluoresce... OMIM:256730
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Sensorineural hearing impairment, Rod-cone dystrophy OMIM:268010
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Somatic sensory dysfunction, Sensorineural hearin... ORPHA:320401
Gilles De La Tourette Syndrome
Motor tics, Phonic tics, Attention deficit hyperactivity disorder OMIM:137580
Colonic Atresia
Colonic atresia OMIM:303650
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Abnormal nervous system ele... OMIM:601780
Gastroschisis
Intestinal atresia ORPHA:2368
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Spasticity, At... ORPHA:99852
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Retinal degeneration, Rigidity, Spasticity, Optic atrophy OMIM:616211
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Dysphagia, Abnormal post... OMIM:619565
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasticity, Chorea, Babinski si... OMIM:164500
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Impaired proprioception, Spastic dysarthria, Spastic paraplegia, Impair... ORPHA:251282
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Stereotypical hand wringing, Inability to walk, Chorea OMIM:618760
Usher Syndrome, Type Iv
Retinal degeneration, Sensorineural hearing impairment, Progressive sensorineural hearing impairm... OMIM:618144
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tr... OMIM:615924
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Spastic tetraplegia OMIM:616657
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Decreased circulating free fatty acid level, Inc... ORPHA:324575
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Immunodeficiency 8
Hyperactivity OMIM:615401
Hsd10 Mitochondrial Disease
Retinal degeneration, Choreoathetosis, Spastic tetraplegia, Sensorineural hearing impairment, Spa... OMIM:300438
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy OMIM:614162
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy OMIM:600955
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Vertigo, Torticollis ORPHA:71518
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Dystonia, Hyperlysinemia, Hypoglycemia, ... ORPHA:3008
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Parkinsonism, Rod-cone dystrophy, Increased neuronal autofluorescent lipopigmen... OMIM:204200
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Recurrent otitis media, Retinal degeneration, Hearing impairment OMIM:615993
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment, Choroidal neovascularization, Dru... OMIM:608895
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Retinal degeneration, Spastic paraplegia, Ataxia, Lower limb spasticity, Knee clonu... OMIM:604360
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Ankle clonus, Abnormal py... ORPHA:52368
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy OMIM:277175
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Extrap... ORPHA:94093
Duodenal Atresia
Duodenal atresia OMIM:223400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Abnormal la... ORPHA:2198
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Microcolon
Microcolon OMIM:251400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Hyperactivity, Dysmetria, Tremor OMIM:618090
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Episodic Ataxia Type 4
Incoordination, Frequent falls, Ataxia, Abnormal head movements, Vertigo ORPHA:79136
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Intestinal atres... OMIM:615237
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Cerebellar atrophy, Low-set ears, Ataxia, Retinal atrophy, Rod-cone dystrophy, ... OMIM:610127
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Frequent falls, Impaired tactile sensation, Spast... ORPHA:206443
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Spasti... OMIM:125250
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Retinal degeneration, Opisthotonus, Hypertonia OMIM:616896
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Acute Bilirubin Encephalopathy
Cerebral palsy, Hemolytic anemia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia, Hy... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Cerebral palsy, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hy... ORPHA:529808
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis, Spastic diplegia OMIM:257970
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Choreoathetosis, Sensorineural hearing impairment, Facial palsy, Absent brainste... OMIM:617519
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine ORPHA:100025
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Atresia Of Small Intestine
Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia ORPHA:1201
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Aganglionic megacolon, Abnormality of the small intestine, Enteroco... ORPHA:95427
Leber Congenital Amaurosis 2
Eye poking, Absent foveal reflex, Fundus atrophy, Pigmentary retinopathy, Optic disc pallor, Atte... OMIM:204100
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Fasting hypoglycemia, Inc... ORPHA:276575
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Fundus atrophy, Sensorineural hearing impairment, Pigmentary retin... OMIM:204000
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, EEG with focal epileptiform discharges, Motor stereotypy, EEG with generalized ... ORPHA:88616
Autosomal Dominant Cerebellar Ataxia
Action tremor, Progressive cerebellar ataxia, Paraparesis, Pigmentary retinopathy, Macular degene... ORPHA:99
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Huntington Disease
Dystonia, Choking episodes, Involuntary movements, Bradykinesia, Oral-pharyngeal dysphagia, Rigid... ORPHA:399
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Spasticity, Hypsarrhythmia ORPHA:500545
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Abnorma... ORPHA:382
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Diabetes And Deafness, Maternally Inherited
Vestibular dysfunction, Retinal degeneration, Sensorineural hearing impairment, Pigmentary retino... OMIM:520000
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory impairme... OMIM:601455
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Sensorineural hearing i... OMIM:619260
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Ataxia, Retinal degeneration, Optic atrophy OMIM:214980
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Spasticity, Optic atrophy, Tremor OMIM:300983
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Involuntary movements, Limb hypertonia, Ataxia, Hypsarrhy... ORPHA:442835
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Spasticity, Ataxia OMIM:225755
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Failure to thrive, Spasticity, Myoclonus, Hypertonia OMIM:618426
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Failure to thrive OMIM:304800
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Attention deficit hyper... OMIM:617384
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy OMIM:602579
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Optic atroph... OMIM:617302
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Spastic paraplegia, Ataxia, Abnorma... ORPHA:1215
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Retinal degeneration, Motor... ORPHA:79264
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Elevat... ORPHA:92050
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Spastic tetraplegia, Babinski sign, Optic atrophy OMIM:252650
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Hsd10 Disease, Infantile Type
Cerebral atrophy, Spastic tetraparesis, Retinal degeneration, Choreoathetosis, Hyperkinetic movem... ORPHA:391428
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, EEG with photoparoxysma... ORPHA:139431
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Macular degeneration OMIM:612948
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Ataxia OMIM:616949
Atypical Rett Syndrome
EEG abnormality, Pill-rolling tremor, Apraxia, Loss of ability to walk, Impaired pain sensation, ... ORPHA:3095
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Orthostatic hypotension, Action tremor, Clonus, Tremor, Dysmetria, Ab... ORPHA:99027
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Adult Krabbe Disease
Tetraparesis, Somatic sensory dysfunction, EEG abnormality, Frequent falls, Impaired tactile sens... ORPHA:206448
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Progressive cerebellar ataxia, T... ORPHA:284289
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Feingold Syndrome Type 2
Jejunal atresia ORPHA:391646
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Sensorineural hearing impairment, Ataxia, Cone/cone-rod dystrophy, Optic at... OMIM:249270
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypertonia, Hypoproteinemia, Hyponatremia, Leukopen... OMIM:267700
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Increased bone mineral density, Hyperinsulinemia OMIM:618406
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Reactive hypoglycemia, Abnorma... ORPHA:97279
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, EEG abnormality, Frequent falls, Involuntary movement... ORPHA:157941
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Obesity, Increased adipose tissue, Failure to thrive, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Obesity, Increased adipose tissue, Failure to thrive, Ch... ORPHA:71526
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, EEG with continuous slow activity, Upper motor neuron dysfuncti... ORPHA:275864
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidi... ORPHA:248111
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Cerebellar atrophy, EEG with generalized slow activity, Ret... ORPHA:168491
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Incomplete partition of the cochlea, Conductive hea... OMIM:303110
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess OMIM:612567
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Periodic hyperkalemic paralysis, Flexion contracture, Hyperkalemia, Fa... ORPHA:682
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Posttransplant Acute Limbic Encephalitis
Dystonia, Ataxia, Myoclonus, Hyponatremia ORPHA:163921
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Trichohepatoenteric Syndrome 2
Colitis, Villous atrophy OMIM:614602
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Failure to thrive ORPHA:223
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Hypoglycemic seizures, Obesity, Hyperbilirubinemia OMIM:609734
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Hand tremor, Impaired proprioception, Parietal cortical atrophy, Head tremor,... ORPHA:412057
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Colonic Atresia
Colonic atresia, Duodenal stenosis, Peptic ulcer ORPHA:1198
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Hearing impairment, Head tremor, Fasciculations, Ataxia... ORPHA:276198
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Hyperuricemia, Anemia, Failure to thrive, Diabetes mellitus, Hypomagnes... OMIM:613845
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Hand tremor, Impaired proprioception, Impaired vibratory sensation, ... ORPHA:101085
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Dystonia, Extrapyramidal muscular rigidity, S... ORPHA:157946
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Parkinsonism, Abnormal cranial nerve morphology, Resting tremor, Intention tremor, Cerebellar cor... ORPHA:247234
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Refsum Disease, Classic
Somatic sensory dysfunction, Retinal degeneration, Sensorineural hearing impairment, Ataxia, Rod-... OMIM:266500
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Spasticity, Tremor OMIM:618718
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Dysphagia, Abnormal posturing, Tremor OMIM:304700
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Hypertonia, Low-set ears, Motor stereotypy, Hyperactivity, Cerebr... ORPHA:352490
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements OMIM:245348
Intussusception
Intussusception OMIM:147710
Webb-Dattani Syndrome
Hypernatremia, Spasticity OMIM:615926
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Multifocal epileptiform discharges, Gait di... ORPHA:505652
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis OMIM:611376
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Retinal degeneration, Spastic paraplegia, Ataxia, Lower limb spasticity, Clonus, Pa... OMIM:270700
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Gluc... OMIM:610947
Hypoadrenocorticism, Familial
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Aceruloplasminemia
Retinal degeneration, Blepharospasm, Ataxia, Cogwheel rigidity, Chorea, Torticollis, Abnormality ... OMIM:604290
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Ataxia OMIM:239500
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Ataxia OMIM:616113
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Hypoglycemia, Dystonia, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign, ... ORPHA:280763
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration, Ataxia, Low-set ears ORPHA:79320
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Villous atrophy OMIM:616050
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Hyperactivity, Inability to walk, Poor gross motor... ORPHA:228360
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormality of enteric ganglion morphology OMIM:142623
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Abnormality of pain sensation, Recurrent hand flappin... ORPHA:544254
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy OMIM:604393
Christianson Syndrome
Cerebellar atrophy, Motor stereotypy, Gait ataxia, Neuronal loss in central nervous system, Cereb... ORPHA:85278
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity, Spastic paraplegia... OMIM:609727
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated ears, Babinski sign OMIM:617773
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Multifocal epileptiform ... ORPHA:411986
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Intestinal malrotation, Colonic diverticula, Aganglionic megacolon, Functional intestinal obstruc... OMIM:243180
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Ataxia OMIM:615558
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Foxg1 Syndrome
Decreased body weight, Dystonia, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, ... ORPHA:561854
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Bare Lymphocyte Syndrome, Type Ii
Colitis, Malabsorption, Villous atrophy OMIM:209920
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Anal canal squamou... ORPHA:424019
Ganglioneuroma
Colorectal polyposis, Gastrointestinal hemorrhage, Multiple intestinal neurofibromatosis, Hamarto... ORPHA:251992
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Optic atrophy, Hypertonia OMIM:274270
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Retinal degeneration, Choreoathetosis, Neurodegeneration, ... OMIM:234200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Whipple Disease
Abnormal pyramidal sign, Hyponatremia, Insulin resistance, Splenomegaly, Ataxia, Anemia, Cachexia... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy OMIM:601110
Refractory Celiac Disease
Jejunitis, Malabsorption, Protein-losing enteropathy, Villous atrophy ORPHA:398063
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Malabsorption, Dysphagia, Protein-losing... ORPHA:2070
Alg8-Cdg
Hyponatremia, Small for gestational age, Ataxia, Anemia, Failure to thrive, Abnormality of subcut... ORPHA:79325
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Leukocytosis, Hyponatremia, Thrombocytopenia, Myoclonus ORPHA:83601
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Lamb-Shaffer Syndrome
Motor stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Optic atrophy ORPHA:530983
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, EEG abnormality, Macrotia, Recurrent hand flapping OMIM:617268
Snakebite Envenomation
Paralysis, Hyponatremia, Respiratory paralysis, Neuromuscular dysphagia, Thrombocytopenia, Pseudo... ORPHA:449285
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Macrotia, Recurrent hand flapping OMIM:300624
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Dystonia, Small for gestational age, Failure to thrive, Spasticity, Hyperalaninemia OMIM:614702
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressiv... ORPHA:225147
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal fistula, Jejunal atresia, Duoden... OMIM:601346
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Hyponatremia, Leukopenia, Hypoglycemia, Radial club ha... OMIM:617053
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity, Polyphagia OMIM:248100
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment ORPHA:457260
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Falls, Myoclonus ORPHA:2382
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Tetraplegia, Chronic... OMIM:618278
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Stereotypical hand wringing, Gait ataxia, Spasticity, Chorea OMIM:618917
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Hyperactivity, Ataxia, Macrotia, Gait disturbance, T... OMIM:614104
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Developmental And Epileptic Encephalopathy 87
Cerebral atrophy, Hypertonia, Hypsarrhythmia, Recurrent hand flapping OMIM:618916
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:610600
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
Cystinosis
Hypokalemia, Abnormal pyramidal sign, Motor stereotypy, Failure to thrive, Polydipsia, Hypophosph... ORPHA:213
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy, Motor stereotypy ORPHA:228384
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Abnormal posturing, Tremor OMIM:128100
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Spasticity, Recurrent hand flapping OMIM:618859
Landau-Kleffner Syndrome
Frequent falls, Hyperactivity, EEG with generalized epileptiform discharges, Steppage gait, Gait ... ORPHA:98818
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel m... ORPHA:251004
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Rett Syndrome
EEG abnormality, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Bradykinesia, ... ORPHA:778
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Ataxia, Retinal atrophy, Head titubation, Oculomotor apraxia ORPHA:370022
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Spasticity, Macular degeneration, Retinal thinning OMIM:270200
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Neutropenia, Hyperglycemia, Thrombocytopen... ORPHA:391673
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Type I diabetes melli... ORPHA:199299
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia ORPHA:199296
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Retinal atrophy, Pigmentary retinopathy, Retinal pig... ORPHA:52427
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Gait disturbance, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Neo... ORPHA:1667
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, An... ORPHA:100924
Glycine Encephalopathy
Hyperactivity, Myoclonus OMIM:605899
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Dystonia, Hyperactivity, Limb hypertonia, Gait ataxia, Spasticity, Chore... ORPHA:500180
Leptin Receptor Deficiency
Polyphagia, Obesity, Diabetes mellitus, Abnormal eating behavior OMIM:614963
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Low-set ears, Rod-cone dystrophy, Attached earlobe, Macrotia, Patchy atrophy of t... ORPHA:436245
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:177735
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Spasticity, Dysphagia, Weight loss, Abnormal ... ORPHA:216866
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Ataxia, Spasticity, Hearing impairment OMIM:272200
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Oculogy... ORPHA:208447
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556037
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Hyperactivity, Lower limb spasticity, Focal EEG dis... ORPHA:3077
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hyperactivity, Tetraplegia, Optic atrophy, Hearing impairment ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping OMIM:615516
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Addison Disease
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:85138
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Spastic tetraplegia, Diffuse cerebral atrophy, Head titubation, Absent brai... ORPHA:3240
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aceruloplasminemia
Parkinsonism, Retinal degeneration, Blepharospasm, Involuntary movements, Abnormality of retinal ... ORPHA:48818
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy, Tongue thrusting, Spasti... ORPHA:77299
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Cerebral cortical atrophy, Motor stereotypy ORPHA:85277
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Duodenal atresia ORPHA:3405
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Pantothenate Kinase-Associated Neurodegeneration