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Gene: Ush1c MGI:1919338

Gene Summary

Name:

USH1 protein network component harmonin

Synonyms:

harmonin, 2010016F01Rik, Usher syndrome 1C

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
absent pinna reflex	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.66×10^-21
improved glucose tolerance	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.37×10^-13
decreased total body fat amount	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.26×10^-08
increased lean body mass	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.37×10^-08
impaired righting response	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.82×10^-23
increased circulating chloride level	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.17×10^-07
decreased grip strength	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.14×10^-12
decreased circulating glucose level	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.85×10^-05
increased red blood cell distribution width	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.32×10^-08
stereotypic behavior	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.82×10^-23
increased food intake	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.27×10^-07
trunk curl	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.59×10^-19
limb grasping	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.72×10^-05
decreased circulating amylase level	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.07×10^-06
increased circulating sodium level	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.44×10^-05
increased bone mineral content	Ush1c^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.78×10^-07

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Viewing: all phenotypes

Histopathology

Images

4 Images

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Legacy Phenotype Associated Images

Ush1c^{tm1a(KOMP)Wtsi}
head, HOM, Male, WTSI

Ush1c^{tm1a(KOMP)Wtsi}
forelimb, HOM, Male, WTSI

Ush1c^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Ush1c^{tm1a(KOMP)Wtsi}
body, HOM, Male, WTSI

View all 85 images

Ush1c^{tm1a(KOMP)Wtsi}
abnormal hair follicle morphology, HET, Female, WTSI

Ush1c^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Ush1c^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

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.

Human diseases associated with Ush1c (3 diseases)
Human diseases predicted to be associated with Ush1c (1016 diseases)

The table below shows human diseases associated to Ush1c by orthology or direct annotation.

Disease	Matching phenotypes	Source
Usher Syndrome, Type Ic	Congenital sensorineural hearing impairment, Vestibular hypofunction	OMIM:276904
Deafness, Autosomal Recessive 18A	Sensorineural hearing impairment	OMIM:602092
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169

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

Disease	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
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Lynch Syndrome 1	Colon cancer	OMIM:120435
Lynch Syndrome 2	Colon cancer	OMIM:609310
Colorectal Cancer, Susceptibility To, 3	Colon cancer	OMIM:612229
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	Hereditary nonpolyposis colorectal carcinoma	OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7	Hereditary nonpolyposis colorectal carcinoma	OMIM:614385
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Lactose Intolerance, Adult Type	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223100
Schizophrenia 15	Hyperactivity	OMIM:613950
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Jejunal Atresia	Jejunal atresia	OMIM:243600
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Diarrhea 9	Villous atrophy	OMIM:618168
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Positive Romberg sign,...	OMIM:616515
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology	OMIM:251850
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Desmoid Disease, Hereditary	Colorectal polyposis, Colon cancer, Desmoid tumors	OMIM:135290
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, EEG abnormality, Truncal ataxia, Abnormal repetitive manneri...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Lactase Deficiency, Congenital	Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223000
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Hyperleucine-Isoleucinemia	Sensorineural hearing impairment, Retinal degeneration	OMIM:238340
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy	OMIM:615863
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l...	OMIM:204500
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Retinitis Pigmentosa Inversa With Deafness	Sensorineural hearing impairment, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Anal Canal Carcinoma	Anal canal squamous carcinoma	OMIM:105580
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Gastroschisis	Intestinal atresia	ORPHA:2368
Ceroid Lipofuscinosis, Neuronal, 6A	Abnormal nervous system electrophysiology, Increased neuronal autofluorescent lipopigment, Retina...	OMIM:601780
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret...	OMIM:617879
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, EEG abnormality, Falls, Inappropriate laughter, Bruxism, Abn...	OMIM:619150
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se...	OMIM:618144
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms	OMIM:239500
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ...	OMIM:619565
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Ravine Syndrome	Anorexia, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, EEG abno...	OMIM:256730
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ataxia, Elevated plasma ...	ORPHA:3008
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Choreoathetos...	OMIM:300438
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	ORPHA:320401
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Dysmetria, Abnormal n...	OMIM:256731
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti...	ORPHA:276580
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Decreased nerve conduction velocity, Drusen, Distal sensory impairm...	OMIM:608895
Usher Syndrome, Type Ic	Congenital sensorineural hearing impairment, Vestibular hypofunction	OMIM:276904
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Malabsorption	OMIM:600955
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, ...	ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 3	Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme...	OMIM:204200
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Dysphagia, Gait ataxia, Atrophy/Degeneration affecting the brainstem, Recurre...	OMIM:617862
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Hearing impairment	OMIM:620270
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk...	ORPHA:94093
Duodenal Atresia	Duodenal atresia	OMIM:223400
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Spinocerebellar Ataxia 7	Chorea, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary...	OMIM:164500
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Self-injurious behavior, EEG abnormality, Stereotypical hand wringing	OMIM:618760
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption	ORPHA:100025
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism...	OMIM:618718
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Bardet-Biedl Syndrome 16	Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing impairment	OMIM:615993
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy...	ORPHA:79299
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, EEG abnormality	OMIM:617820
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea	OMIM:246700
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation	ORPHA:1201
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ...	OMIM:520000
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Deafness, Autosomal Recessive 18A	Sensorineural hearing impairment	OMIM:602092
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Polydipsia, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Polydipsia, Hypernatremia	OMIM:304800
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration, Distal sensory impairment	OMIM:619764
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia	ORPHA:71518
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Dystonia, Abnormal repe...	OMIM:600795
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Feingold Syndrome Type 2	Jejunal atresia	ORPHA:391646
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy	OMIM:300983
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur...	ORPHA:52368
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder	OMIM:617113
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Nephrogenic Diabetes Insipidus	Failure to thrive, Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti...	OMIM:619260
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im...	OMIM:604360
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Po...	ORPHA:71526
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re...	OMIM:616108
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Pancreatic Colipase Deficiency	Fat malabsorption, Steatorrhea	ORPHA:309108
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot...	OMIM:125250
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Huntington Disease	Dystonia, Oral-pharyngeal dysphagia, Aggressive behavior, Chorea, Weight loss, Abnormal circulati...	ORPHA:399
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G...	ORPHA:275864
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at...	ORPHA:251282
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral ...	ORPHA:391428
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep...	ORPHA:599373
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive	ORPHA:178029
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:97279
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re...	OMIM:618218
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer	OMIM:613244
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior	ORPHA:75858
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon	OMIM:306980
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rod-...	OMIM:610127
Developmental And Epileptic Encephalopathy 67	Hypsarrhythmia, EEG abnormality, Athetosis, Gait disturbance, Recurrent hand flapping	OMIM:618141
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co...	ORPHA:168491
Polyposis, Intestinal, Scattered And Discrete	Discrete intestinal polyps	OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome	Serrated intestinal polyps	OMIM:617108
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia	OMIM:617885
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia, Neutropenia	OMIM:616949
Microcephaly, Seizures, And Developmental Delay	Hyperactivity	OMIM:613402
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r...	OMIM:618917
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula	OMIM:612567
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ...	OMIM:224120
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Pigmentary r...	ORPHA:79264
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with multifocal slow ac...	ORPHA:442835
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy	ORPHA:103910
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Ataxia	ORPHA:85334
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Protein-losing enteropathy, Steatorrhea	OMIM:602579
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn...	ORPHA:1215
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Retinal degener...	OMIM:249270
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma...	ORPHA:100924
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hyperactivity, Dystonia	OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Enterocolitis	OMIM:616050
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia, Dysphagia	OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Bilateral sensorineural hear...	OMIM:619422
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-set ears, ...	OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism	OMIM:300434
Intussusception	Intussusception	OMIM:147710
Trichohepatoenteric Syndrome 2	Villous atrophy, Colitis	OMIM:614602
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal...	OMIM:300048
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Dysphagia, Agitation, Bruxism, Abnormal repetitive mannerisms	OMIM:617435
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur...	ORPHA:206443
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Dystonia	ORPHA:163921
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Leptin Receptor Deficiency	Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia	OMIM:614963
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:231226
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypoglycemia, Hypercalcemi...	ORPHA:199299
Refractory Celiac Disease	Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption	ORPHA:398063
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves	ORPHA:2382
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R...	ORPHA:101085
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis	OMIM:612591
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Temple Syndrome	Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia	ORPHA:254516
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin...	ORPHA:424019
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Ataxia, Retinal degeneration	ORPHA:3363
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Sensorineural hearing impairment, Retinal degeneration	OMIM:616896
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Torsion d...	OMIM:128100
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Christianson Syndrome	Cerebellar atrophy, Truncal ataxia, Gait ataxia, Neuronal loss in central nervous system, Inappro...	ORPHA:85278
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Mucolipidosis Iv	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:252650
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Colitis, Malabsorption	OMIM:209920
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi...	ORPHA:2070
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hu...	OMIM:182290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Attention deficit hyperactivity disorder, Dystonia, Abnormal repetitive mannerism...	OMIM:619725
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	ORPHA:457260
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Webb-Dattani Syndrome	Hypernatremia, Obesity	OMIM:615926
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple...	OMIM:619317
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Oculorenocerebellar Syndrome	Choreoathetosis, Retinal degeneration	OMIM:257970
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, High palate, Bifid uvula	OMIM:601110
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration, Ataxia, Low-set ears	ORPHA:79320
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia	OMIM:614736
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Netherton Syndrome	Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia	OMIM:256500
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ...	OMIM:617302
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden...	OMIM:601346
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms	DECIPHER:45
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestational age, Anemia, ...	ORPHA:79325
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Refsum Disease, Classic	Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Rod-cone dystrophy, Retina...	OMIM:266500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Congenital Isolated Acth Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures	ORPHA:199296
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear...	OMIM:618342
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Whipple Disease	Hyponatremia, Ataxia, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Anemia	ORPHA:3452
Developmental And Epileptic Encephalopathy 28	Retinal degeneration, Optic atrophy, Cerebral atrophy	OMIM:616211
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large...	ORPHA:411986
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Foxg1 Syndrome	Dystonia, Choreoathetosis, Bruxism, Decreased body weight, Abnormal repetitive mannerisms, Paroxy...	ORPHA:561854
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M...	OMIM:615710
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:610600
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy	OMIM:616171
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Huntington Disease-Like 1	Cerebellar atrophy, Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, EEG ab...	ORPHA:157941
Immunodeficiency 85 And Autoimmunity	Villous atrophy	OMIM:619510
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in...	OMIM:600430
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation	OMIM:619431
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cln5 Disease	Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, Uns...	ORPHA:228360
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep...	ORPHA:52427
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Mirage Syndrome	Hyponatremia, Hypoglycemia, Thrombocytopenia, Radial club hand, Hyperkalemia, Leukopenia, Decreas...	OMIM:617053
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p...	ORPHA:66628
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Snakebite Envenomation	Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia	ORPHA:449285
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Addison Disease	Hyponatremia, Normocytic anemia, Failure to thrive, Salt craving, Hypoglycemia, Hypercalcemia, An...	ORPHA:85138
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Ileal ulcer	OMIM:616744
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p...	ORPHA:179494
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Impaired proprioception, Truncal at...	ORPHA:412057
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi...	ORPHA:95409
Mednik Syndrome	Abnormal intestine morphology	ORPHA:171851
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re...	ORPHA:364055
Aminoacylase 1 Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:609924
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Opisthotonus, Weight loss, Attention deficit hyperactivity disorder, Dyspha...	ORPHA:216866
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Limb dystonia, Lingual dyst...	ORPHA:93958
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-...	ORPHA:90362
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot...	ORPHA:99027
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane...	OMIM:614857
Alg1-Cdg	Abnormality of the gastrointestinal tract, Protein-losing enteropathy	ORPHA:79327
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Abnormal dental enamel morphology, Hypercalcemia, Craniosynostosis, Obesity, ...	ORPHA:251004
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment	ORPHA:369939
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Atypical scarring of skin	ORPHA:79273
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly	OMIM:604273
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxi...	ORPHA:284289
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Ileus	OMIM:304790
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior	ORPHA:3077
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas...	OMIM:175500
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso...	OMIM:610042
Familial Glucocorticoid Deficiency	Hyponatremia, Ketotic hypoglycemia, Anorexia, Hyperkalemia, Hypoglycemic seizures, Weight loss, F...	ORPHA:361
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Interictal epilept...	OMIM:617802
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch...	OMIM:241200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Dystonia, Oculogyric crisis, Chorea, Self-injurious behavior, Inappropriate laughter, Bruxism, St...	OMIM:614254
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Sensorineural hearing impairment, Retinal atrophy	OMIM:617236
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Polyphagia, Obesity, Hyperbilirubinemia	OMIM:609734
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Irida Syndrome	Abnormal intestine morphology	ORPHA:209981
Severe Intellectual Disability And Progressive Spastic Paraplegia	Overweight, Abnormal repetitive mannerisms, Dystonia	ORPHA:280763
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Abnormal autonomic nervous system ...	ORPHA:247234
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal r...	OMIM:617807
Phenylketonuria	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior...	OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl...	OMIM:617600
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Self-injurious behavior	OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Progressive Supranuclear Palsy-Corticobasal Syndrome	Tremor, Jerky head movements, Dysphagia, Focal dystonia	ORPHA:240103
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Legionnaires Disease	Hyponatremia, Ataxia, Anorexia, Splenomegaly, Cellulitis, Lymphopenia	ORPHA:549
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact...	OMIM:615547
Mpi-Cdg	Gastrointestinal hemorrhage, Protein-losing enteropathy	ORPHA:79319
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Cystinosis	Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, Failure to thrive, ...	ORPHA:213
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:620023
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Head titubation, Retinal atrophy, Ataxia, Retinal dystrophy	ORPHA:370022
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Failure to thrive, Anemia	ORPHA:97362
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	OMIM:300958
Shigellosis	Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Anorexia, Leukocytosis, Abnormal blood ...	ORPHA:810
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni...	ORPHA:171876
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Rett Syndrome	Inability to walk, EEG abnormality, Gait disturbance, Abnormal autonomic nervous system physiolog...	ORPHA:778
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Compulsive behaviors, Low-s...	OMIM:618430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di...	OMIM:619121
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Cholestasis, Progressive Familial Intrahepatic, 2	Fat malabsorption, Hepatocellular carcinoma	OMIM:601847
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema...	ORPHA:157794
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Pediatric-Onset Graves Disease	Hyperactivity, Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil ...	ORPHA:525731
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia	ORPHA:248111
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive	OMIM:602522
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration, Dysmetria, Dysphagia	OMIM:619780
48,Xxyy Syndrome	Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Tremor, Obesity, Type II diabetes mel...	ORPHA:10
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Chorea, Dysphagia, Titubation, Gait ataxia, Dystonia, Abnormal posturing	ORPHA:225147
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Recurrent han...	OMIM:617903
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time	OMIM:619377
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigme...	ORPHA:157850
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive manner...	OMIM:618004
Man1B1-Cdg	Resting tremor, Polyphagia, Truncal obesity	ORPHA:397941
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Macrotia, Gait disturbance, Self-mutilation	ORPHA:457240
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Joubert Syndrome 6	Retinal degeneration, Abnormal repetitive mannerisms, Ataxia, Chorioretinal coloboma	OMIM:610688
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Optic Atrophy-Intellectual Disability Syndrome	Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Pro...	ORPHA:401777
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Ataxia, Somatic ...	ORPHA:167
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Duodenal stenosis	ORPHA:2547
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont...	ORPHA:391372
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,...	OMIM:617101
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur...	OMIM:619428
Angelman Syndrome	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Tongue thrusting, Obesity, Self-injurious beh...	ORPHA:72
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, Retinal degeneration, Hearing impairment	OMIM:272200
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L...	OMIM:123450
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, EEG abnormality, Gait imbal...	ORPHA:411511
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:608594
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe...	ORPHA:3306
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Fail...	ORPHA:927
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Alg12-Cdg	Hyponatremia, Abnormal bone ossification, Recurrent hypoglycemia, Abnormal adipose tissue morphol...	ORPHA:79324
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter, Decreased body we...	OMIM:618347
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Ataxia, Retinal degeneration, Optic atrophy, Phonic tics, Choreoatheto...	OMIM:234200
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon	OMIM:609313
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ...	ORPHA:43
Porphyria Variegata	Hyponatremia, Somatic sensory dysfunction, Scarring, Abnormal circulating porphyrin concentration...	ORPHA:79473
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Paresthesia, Hypocalcemia...	ORPHA:79444
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Atypical Rett Syndrome	Restrictive behavior, Impaired pain sensation, Tremor, Tongue thrusting, Gait ataxia, Pill-rollin...	ORPHA:3095
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment	ORPHA:238750
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon	OMIM:155310
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polydipsia, Ro...	OMIM:615994
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Japanese Encephalitis	Hyponatremia, Neutrophilia, Anorexia, Tremor, Elbow flexion contracture, Opisthotonus, Choreoathe...	ORPHA:79139
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Atrophic gastritis, Colitis, Villous atrophy	OMIM:614700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
Huntington Disease-Like 3	Abnormal head movements, Caudate atrophy, Chorea, Progressive gait ataxia, Cerebral cortical atrophy	ORPHA:157946
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, Hypoperistalsis	ORPHA:2241
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Acholic stools, Steatorrhea	OMIM:607765
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl...	ORPHA:90791
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Abnormality of pain sensation, Recurrent hand flapping,...	ORPHA:544254
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Sensorineural hearing impairment, Angioid streaks of the fundus, Retinopathy, Retin...	OMIM:239000
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Cone/cone-rod dystrophy, Ataxia, ...	ORPHA:94147
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, EEG with generalized polyspikes, EEG with generalized...	ORPHA:163681
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Low-set ears, Rod-c...	ORPHA:436245
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Choreoathetosi...	ORPHA:79443
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Immunodeficiency 31C	Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception	OMIM:614162
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b...	OMIM:300912
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Hypochromic microcytic anemia, Normochromic microcytic an...	ORPHA:66634
Hartsfield Syndrome	Hypernatremia, Craniosynostosis	OMIM:615465
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Limb ataxia, Gait ...	OMIM:248500
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity	OMIM:609727
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ...	ORPHA:89938
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption	ORPHA:79302
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Impaired temperature sensation, Osteoporosis, Obesity, Abdominal obesity, Type II dia...	ORPHA:398079
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Large earlobe, Gait imbalance, Low-set ears, Dysphagia,...	OMIM:619312
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature...	ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Impulsivity, Impaired temperature sensation, Flexion contracture, Osteoporosis, Incre...	ORPHA:398069
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenom...	OMIM:219800
Fg Syndrome 3	Hyperactivity, Sensorineural hearing impairment	OMIM:300406
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature...	ORPHA:177904
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms...	OMIM:616579
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Failure to thrive, Diabetes mellitus, Small for gestational age, Impaired temperature...	ORPHA:177901
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Somatic sensory dysfunction, Tremor, Pseudobulbar paralysis	ORPHA:79276
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Diabetes mellitus, Small for gestational age, Impaired temperature sensation, Bulimia...	ORPHA:98754
Infantile Neuroaxonal Dystrophy	Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait disturbance, Abnormal auto...	ORPHA:35069
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia	ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Abnormal chorioretinal morphology, Dilatated internal auditory canal, C...	ORPHA:1435
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Hyperactivity, Ataxia, Thickened helices, Abnormality of the middle ear...	ORPHA:581
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula	OMIM:173900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy	OMIM:606367
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ...	ORPHA:98794
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,...	OMIM:610505
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hyperactivity, Abnormality of retinal pigmentation, Retinopathy, Impul...	ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Sensorineural hearing impairment, Retinal degeneration	OMIM:615249
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m...	ORPHA:500159
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Protruding ear, Athetosis, EEG abnormality, Bruxism, Abnormal repetitiv...	OMIM:613454
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Self-mutilation	ORPHA:52503
Muir-Torre Syndrome	Colonic diverticula, Benign gastrointestinal tract tumors, Duodenal adenocarcinoma, Colon cancer	OMIM:158320
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon	OMIM:619362
Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:427
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Hyperkalemia, Hypoglycemia	ORPHA:90790
Cholestasis, Progressive Familial Intrahepatic, 1	Fat malabsorption	OMIM:211600
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Aceruloplasminemia	Chorea, Ataxia, Retinal degeneration	OMIM:604290
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Low-s...	OMIM:103050
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Ataxia, Atrophy of the spinal cord, Dysphagia, Frontal cortical atrophy,...	ORPHA:2822
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Fat malabsorption	OMIM:214950
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Hypoglycemia	ORPHA:95613
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:168558
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia, Hiatus hernia	ORPHA:71272
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia...	OMIM:617061
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkale...	ORPHA:293978
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hearing impairment	ORPHA:412035
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:289548
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Impaired pain sensation, Hyperlipidemia, Hyperkalemia, Obesity...	ORPHA:293987
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Ataxia, Retinal degeneration	OMIM:270700
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Flexion contracture, Obesity, Choreoathet...	OMIM:300055
Holoprosencephaly	Hyponatremia, Omphalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Congeni...	ORPHA:2162
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Luscan-Lumish Syndrome	Obesity, Polyphagia, Advanced ossification of carpal bones, Aggressive behavior	OMIM:616831
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Macrotia, Low-set ears, Rod-cone dystrophy, Cerebral cortical atrophy, Retinal degeneration	ORPHA:166035
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, Self-injurio...	ORPHA:457351
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Panhypophysitis	Hyponatremia, Polydipsia, Normochromic anemia	ORPHA:95513
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:816
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Protruding ear, Low-set ears, Retinal...	OMIM:618479
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit ...	ORPHA:476126
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod...	OMIM:617865
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo...	ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ...	OMIM:156200
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:252920
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma...	ORPHA:2479
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ...	OMIM:300352
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Sheehan Syndrome	Hyponatremia, Normochromic anemia, Hypoglycemia, Obesity	ORPHA:91355
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th...	ORPHA:424016
Smith-Magenis Syndrome	Impaired pain sensation, Self-injurious behavior, EEG abnormality, Gait disturbance, Attention de...	ORPHA:819
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Prader-Willi Syndrome	Osteopenia, Failure to thrive in infancy, Impaired pain sensation, Hyperinsulinemia, Osteoporosis...	OMIM:176270
Histidinemia	Hyperactivity	ORPHA:2157
Chylomicron Retention Disease	Fat malabsorption, Steatorrhea	ORPHA:71
Adrenal Hypoplasia, Congenital	Hyponatremia, Failure to thrive	OMIM:300200
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg...	OMIM:609136
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Cond...	ORPHA:261197
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy	OMIM:608104
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Steatorrhea	OMIM:212065
Parenteral Nutrition-Associated Cholestasis	Villous atrophy	ORPHA:567983
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Aganglionic megaco...	OMIM:209900
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Osteomalacia, At...	ORPHA:534
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Familial Dysautonomia	Hyponatremia, Ataxia, Osteolysis, Impaired pain sensation	ORPHA:1764
Axial Spondylometaphyseal Dysplasia	Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy	ORPHA:168549
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper...	ORPHA:435638
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys...	ORPHA:251061
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms, Anemia, Neutropenia	OMIM:618067
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Ataxia, Retinal degeneration	OMIM:615558
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Elevated hemoglobin A1c, Ataxia, Dystonia, Type I diabetes mellitus	OMIM:616113
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi...	OMIM:616364
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Steatorrhea	OMIM:557000
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
Scheie Syndrome	Retinal degeneration	OMIM:607016
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A...	OMIM:619103
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me...	OMIM:115470
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia	ORPHA:90794
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L...	OMIM:212066
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrotia, Hypoautofluorescent retinal lesion, Low-set ears, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy...	OMIM:610217
Aceruloplasminemia	Abnormality of retinal pigmentation, Ataxia, Chorea, Limb ataxia, Gait ataxia, Macular degenerati...	ORPHA:48818
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Prader-Willi Syndrome	Osteopenia, Diabetes mellitus, Impaired temperature sensation, Osteoporosis, Abdominal obesity, A...	ORPHA:739
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri...	OMIM:610253
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
D-Glyceric Aciduria	Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Opisthotonus, Failure to thrive	OMIM:220120
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis	ORPHA:391487
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Beta-Ketothiolase Deficiency	Hypoglycemia, Thrombocytosis, Anorexia, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Agitat...	ORPHA:134
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Adenohypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95512
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Retinal dystrophy, Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnor...	OMIM:615802
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hearing impairment	OMIM:252900
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Inability to walk, Multifocal epile...	OMIM:619229
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro...	ORPHA:544482
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Ataxia, Inability to walk, Dysmetria, Gait disturbance, Difficulty walking, Dyspha...	ORPHA:139396
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Trichothiodystrophy 3, Photosensitive	Pyloric stenosis, Meckel diverticulum	OMIM:616395
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Optic atrophy, Pigmentary retinopathy, Macrotia, Abn...	ORPHA:90321
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Hypophosphatem...	OMIM:616026
Hurler Syndrome	Recurrent otitis media, Neurodegeneration, Retinal degeneration, Hearing impairment	OMIM:607014
Syndromic Diarrhea	Hepatoblastoma, Villous atrophy, Colitis, Gastritis	ORPHA:84064
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai...	OMIM:120330
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Restlessness, Aggressive behavior, Polyphagia, Self-mutilation	ORPHA:251028
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Elevated circulating creatine kinase concentration, Dysphagia, Dystonia, Arthrogryposis m...	ORPHA:496641
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Sensorineural hearing impairment, Ataxia	ORPHA:760
X-Linked Acrogigantism	Abnormal oral glucose tolerance, Fasting hyperinsulinemia, Polyphagia, Ataxia	ORPHA:300373
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Oculoskeletodental Syndrome	Macroglossia, Protein-losing enteropathy	OMIM:618440
Ogden Syndrome	Abnormal head movements, Macrotia, Shuffling gait, Low-set ears	ORPHA:276432
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary...	ORPHA:79282
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat...	ORPHA:522077
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Steatorrhea	ORPHA:79303
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate...	OMIM:619573
Developmental And Epileptic Encephalopathy 2	Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt...	OMIM:300672
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe...	ORPHA:457279
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu...	OMIM:264800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Abno...	ORPHA:300570
Trichohepatoenteric Syndrome 1	Villous atrophy, Bifid uvula	OMIM:222470
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious be...	OMIM:620330
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ...	OMIM:619680
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal degeneration, Retinal hemorrhage, ...	ORPHA:90324
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, Dysphagia, Abnormal re...	ORPHA:447997
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Trichothiodystrophy	Gait ataxia, Protruding ear, Macular degeneration, Bilateral sensorineural hearing impairment, Di...	ORPHA:33364
Niemann-Pick Disease, Type C2	Ataxia, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocytosis, Dystonia, Abnorm...	OMIM:607625
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten...	OMIM:256800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration, Hypsarrhythmia	ORPHA:542306
Liver Disease, Severe Congenital	Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci...	OMIM:619991
Cockayne Syndrome	Cerebellar atrophy, High-frequency sensorineural hearing impairment, Optic disc pallor, Somatic s...	ORPHA:191
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ...	ORPHA:2388
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive, Ataxia	OMIM:618426
Dextrocardia	Meckel diverticulum, Intestinal malrotation	ORPHA:1666
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked ...	OMIM:216400
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Alg9-Cdg	Villous atrophy, Gastroesophageal reflux, Bifid uvula	ORPHA:79328
Rett Syndrome	Cachexia, Truncal ataxia, Bruxism, Gait ataxia, Dystonia, Stereotypical hand wringing	OMIM:312750
Vici Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Neutropenia, Leukopenia, T...	OMIM:242840
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb...	ORPHA:512
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Protein-losing enteropathy, Cleft palate	OMIM:235255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia	OMIM:619351
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper...	ORPHA:404448
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Hand tremor	ORPHA:424
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Gangliocytoma	Polyphagia, Paresthesia	ORPHA:251937
Mend Syndrome	Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior	ORPHA:401973
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overfolded helix, Dysmetr...	OMIM:617330
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-mutilation, Self-injurious behavior, Thickened he...	ORPHA:261494
Weaver Syndrome	Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia	OMIM:277590
Nephronophthisis 11	Polydipsia, Retinal degeneration	OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Microtia, Atresia of ...	OMIM:236670
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine	OMIM:200995
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate	OMIM:235510
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Ileus, Aganglionic megacolon, Microcolon	ORPHA:163746
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Matthew-Wood Syndrome	Duodenal stenosis	ORPHA:2470
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms	OMIM:610954
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum	OMIM:311900
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Failure to thrive, Small for gestational age	OMIM:618252
Craniopharyngioma	Polyphagia, Type II diabetes mellitus, Obesity	ORPHA:54595
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha...	OMIM:615873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Protein-losing enteropathy	ORPHA:1655
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Retinal dystrophy, Sensorineural hearing impairment, Opt...	OMIM:619512
Cockayne Syndrome B	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han...	OMIM:615485
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior...	OMIM:614756
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref...	ORPHA:93932
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Restric...	OMIM:619475
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al...	OMIM:309000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Impaired pain sensation, Attention deficit hyperactivity diso...	OMIM:619005
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Alport Syndrome	Macular degeneration, Sensorineural hearing impairment, Retinal flecks, Dysphagia	ORPHA:63
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, EEG abnormality, Hypoplasia of the retina, Retinal dysplasia, Ret...	OMIM:253280
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Developmental And Epileptic Encephalopathy 100	Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain ...	OMIM:619777
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e...	OMIM:301040
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,...	ORPHA:468631
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Chorea, EEG with temporal sharp...	ORPHA:217253
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypoglycemia, Small for gestational age, Craniosynostosis, Hyperkalemia, Camptodact...	OMIM:201750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Decreased proportion of CD8-positive T cells, Elbow flexion contracture, Hypere...	ORPHA:508533
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Maternal Uniparental Disomy Of Chromosome 4	Fat malabsorption	ORPHA:96180
Tarp Syndrome	Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology	ORPHA:2886
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy...	OMIM:301030
Isolated Biliary Atresia	Acholic stools, Fat malabsorption	ORPHA:30391
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire...	ORPHA:642
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo...	ORPHA:369837
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Conductiv...	ORPHA:2785
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Retinal detachment, Protruding ear, Attention deficit hyperactivity disorder, ...	ORPHA:464311
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi...	ORPHA:513456
Primrose Syndrome	Restlessness, Hip contracture, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein ...	OMIM:259050
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, High palate, Cleft palate	ORPHA:2953
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive...	ORPHA:464306
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s...	OMIM:265380
Dpagt1-Cdg	Lipodystrophy, Ataxia, Aggressive behavior, Tremor, Flexion contracture, Osteoporosis, Head-bangi...	ORPHA:86309
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Ogden Syndrome	Inguinal hernia, Torticollis, Polycythemia, Maternal diabetes, Dysphagia, Iron deficiency anemia,...	OMIM:300855
Mosaic Trisomy 16	Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum	ORPHA:1708
1P36 Deletion Syndrome	Camptodactyly of finger, Abnormality of the spleen, Polyphagia, Obesity, Self-injurious behavior,...	ORPHA:1606
Bannayan-Riley-Ruvalcaba Syndrome	Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis	ORPHA:109
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de...	ORPHA:177907
Farber Disease	Macular degeneration, Cherry red spot of the macula, Brain atrophy	ORPHA:333
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Rod-cone dystrophy, Optic atrophy, Protruding ear, Macular deg...	ORPHA:3132
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ...	OMIM:309590
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu...	OMIM:229850
Werner Syndrome	Retinal degeneration	OMIM:277700
Kinsship Syndrome	Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism	OMIM:619297
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Zygomycosis	Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual...	ORPHA:73263
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ...	ORPHA:508498
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy	ORPHA:97297
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur...	ORPHA:3337
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Retinopathy, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sen...	ORPHA:353281
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Intestinal malrotation, Microcolon	OMIM:600001
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ataxia, Posteriorly rotated ears, Retinal dystrophy, Macular degeneration, Low-set ears, Rod-cone...	OMIM:266920
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology	OMIM:601776
Fraser Syndrome 1	Abnormal small intestine morphology, Cleft palate, Abnormality of the anus	OMIM:219000
Meier-Gorlin Syndrome 7	Anal stenosis, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High palate, Anal atresia	OMIM:617063
Arboleda-Tham Syndrome	Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Promine...	OMIM:616268
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self...	OMIM:607872
Abetalipoproteinemia	Fat malabsorption, Steatorrhea	ORPHA:14
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Small bowel diverticula	ORPHA:90349
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ...	OMIM:301044
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ...	ORPHA:84
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing	ORPHA:268943
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea	ORPHA:811
Trisomy 8P	Malrotation of small bowel, Bifid uvula, Cleft palate	ORPHA:264450
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology	ORPHA:1571
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin...	OMIM:619325
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repe...	OMIM:612474
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Cleft palate	OMIM:274000
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ...	OMIM:194190
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:79474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Alström Syndrome	Somatic sensory dysfunction, Hypertriglyceridemia, Dorsocervical fat pad, Ataxia, Splenomegaly, I...	ORPHA:64
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La...	ORPHA:798
Restrictive Dermopathy	Submucous cleft hard palate, Microcolon	ORPHA:1662
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attention deficit hyperactivity diso...	OMIM:619522
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia	OMIM:606170
Autosomal Dominant Cutis Laxa	Small bowel diverticula	ORPHA:90348
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Aganglionic megacolon, Posteriorly rotated ears, Impaired pain sensatio...	ORPHA:2152
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss...	OMIM:312870
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai...	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ush1c

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ush1c.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ush1c^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ush1c^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ush1c^{tm1a(KOMP)Wtsi}	PMC6459510
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation.	Nature communications (October 2018)	Ush1c^{tm1a(KOMP)Wtsi}	PMC6167318
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Ush1c^{tm1a(KOMP)Wtsi}	PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ush1c^{tm1a(KOMP)Wtsi}	PMC5827107
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Ush1c^{tm1a(KOMP)Wtsi}	PMC3996542

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ush1c^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ush1c^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ush1c MGI:1919338

Gene Summary

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Phenotypes

lacZ Expression

Associated Images

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Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Ush1c mutations

Histopathology

IMPC related publications

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