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Gene: Itpr3 MGI:96624

Gene Summary

Name:

inositol 1,4,5-triphosphate receptor 3

Synonyms:

tf, Itpr-3, Ip3r3

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
abnormal skin morphology	Itpr3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Itpr3^em1(IMPC)Mbp	HOM	Early adult	1.10×10^-05
abnormal spleen morphology	Itpr3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Itpr3^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Itpr3^em1(IMPC)Mbp	HOM	Early adult	9.04×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

49 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Itpr3 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 Itpr3 (2 diseases)
Human diseases predicted to be associated with Itpr3 (1365 diseases)

The table below shows human diseases associated to Itpr3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Type 1 Diabetes Mellitus		Polyphagia, Polydipsia	OMIM:222100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J		Difficulty walking	OMIM:620111

The table below shows human diseases predicted to be associated to Itpr3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Bulimia Nervosa, Susceptibility To	Bulimia	OMIM:607499
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Isolated Corpus Callosum Agenesis	Short attention span, Dysphagia, Bradyphrenia, Agenesis of corpus callosum	ORPHA:200
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the brainstem, Inability to walk, Absent septum pellucidum, Hypop...	OMIM:618492
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:614039
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:610031
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar...	OMIM:608716
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Lissencephaly	OMIM:300067
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity	ORPHA:356996
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity...	OMIM:618286
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Difficulty walking, Agenesis of corpus callosum, Spastic gait, Aplasia...	ORPHA:401820
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Foxg1 Syndrome	Abnormal corpus callosum morphology, Difficulty walking, Bruxism, Inability to walk, Hypoplasia o...	ORPHA:561854
Lissencephaly 3	Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp...	OMIM:611603
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Dysg...	ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive	Failure to thrive, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:617090
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Lissencephaly 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep...	OMIM:614019
Chudley-Mccullough Syndrome	Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar hypopla...	OMIM:604213
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
X-Linked Neurodegenerative Syndrome, Bertini Type	Ataxia, Agenesis of corpus callosum	ORPHA:85334
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microcornea, Corneal opacity	ORPHA:2432
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Focal polymicrogyria, Hypoplasia o...	OMIM:615771
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Masa Syndrome	Gait disturbance, Agenesis of corpus callosum	ORPHA:2466
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Unsteady gait, Hypoplasia of the pons, Agenesis of corpus...	OMIM:617542
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia	OMIM:222100
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Glycine Encephalopathy 1	Irritability, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impu...	OMIM:605899
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Type II lissencephaly, Postnatal growth retardation, Abnormal basal...	ORPHA:300570
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity	ORPHA:1980
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum	ORPHA:401830
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Obesity And Hypopigmentation	Red hair, Overgrowth, Obesity, Polyphagia	OMIM:620195
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Hypoplasia of the pons, Difficulty walking, Inability ...	OMIM:617695
Spastic Paraplegia 11, Autosomal Recessive	Mental deterioration, Cerebral cortical atrophy, Tip-toe gait, Obesity, Abnormal periventricular ...	OMIM:604360
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Ventriculomegaly And Arthrogryposis	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:619501
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis...	OMIM:619302
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Comp...	ORPHA:500166
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum	OMIM:166990
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619301
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Kleine-Levin Syndrome	Polydipsia, Parosmia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive ...	ORPHA:33543
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Hyperactivity	OMIM:274270
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Failure to thrive, Cerebral atrophy, Periventricular cysts, ...	ORPHA:255182
Microcephaly 16, Primary, Autosomal Recessive	Decreased body weight, Simplified gyral pattern, Primary microcephaly, Agenesis of corpus callosum	OMIM:616681
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Partial agenesis of the corpus callosum, Dysphagia	OMIM:619025
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Gait ataxia, Agenesis of corpus callosum	OMIM:616540
Usmani-Riazuddin Syndrome, Autosomal Recessive	Aggressive behavior, Agenesis of corpus callosum	OMIM:619548
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n...	OMIM:614237
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Thin corpus callosum, Microcephaly, Agenesis of corpus callosum	OMIM:620200
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Dysphagia, Pachygyria, Thin corpus ...	ORPHA:572013
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Inability to walk, Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Tall stature, Agenesis of corpus callosum	OMIM:613163
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Corneal opacity	ORPHA:79292
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Cerebrooculofacioskeletal Syndrome 3	Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum	OMIM:616570
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w...	OMIM:620317
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Dysmetria, Agenesis of corpus callosum	OMIM:610245
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum	ORPHA:85179
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Progressive micro...	OMIM:618959
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
11P15.4 Microduplication Syndrome	Aggressive behavior, Obesity, Highly arched eyebrow, Synophrys	ORPHA:300305
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia...	OMIM:618325
Syndromic X-Linked Intellectual Disability 7	Obesity, Sparse body hair	ORPHA:85274
Masa Syndrome	Microcephaly, Shuffling gait, Agenesis of corpus callosum	OMIM:303350
Galactosialidosis	Corneal opacity	ORPHA:351
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Central Diabetes Insipidus	Weight loss, Polydipsia, Failure to thrive, Anorexia	ORPHA:178029
Manganese Poisoning	Memory impairment, Depression, Confusion, Inappropriate laughter, Akinesia, Emotional lability, I...	ORPHA:306682
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	ORPHA:166024
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Intellectual Developmental Disorder With Autism And Speech Delay	Pachygyria, Motor stereotypy, Reduced social reciprocity, Inability to walk	OMIM:606053
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Morquio Syndrome C	Corneal opacity	OMIM:252300
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse...	OMIM:129490
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul...	ORPHA:255138
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Nephronophthisis 9	Polydipsia	OMIM:613824
Aredyld	Generalized hypotrichosis	OMIM:207780
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dysgenesis of the basal ganglia, Polymicrog...	ORPHA:171680
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Gand Syndrome	Tics, Inappropriate laughter, Sparse hair, Hyperactivity	OMIM:615074
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Truncal ataxia...	ORPHA:453521
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Failure to thrive, Agenesis of corpus callosum, Microcephaly, Aggressive behavior, Hyperactivity	OMIM:615286
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Imagawa-Matsumoto Syndrome	Polymicrogyria, Tall stature, Birth length greater than 97th percentile, Agenesis of corpus callo...	OMIM:618786
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy, Agenesis of corpus callosum	OMIM:618766
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Failure to thrive, Choreoathetosis, Agenesis of corpus callosum	OMIM:618238
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Moynahan Syndrome	Alopecia, Cachexia, Sparse hair	ORPHA:2574
Oliver-Mcfarlane Syndrome	Alopecia, Long eyelashes, Long eyebrows, Sparse hair, Small for gestational age	OMIM:275400
Bardet-Biedl Syndrome 9	Polyphagia, Obesity, Polydipsia, Truncal obesity	OMIM:615986
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin...	OMIM:608636
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Dysmetria, Irritability, Agenesis of corpus callosum, Ataxia, Truncal ataxia	OMIM:250620
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar h...	OMIM:615095
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog...	OMIM:194300
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619466
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Intellectual Developmental Disorder, X-Linked 97	Obesity, Synophrys	OMIM:300803
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Truncal obesity, Sparse body hair	ORPHA:261483
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Cerebellar hypoplasia, Aggressive behavior, Hyperactivity, Ataxia, Thin corpus callosum	OMIM:620270
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Inability...	ORPHA:79243
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Partial agenesis o...	OMIM:616171
Teratoma, Pineal	Polydipsia	OMIM:273120
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Failure to thrive, Irritability, Cerebellar hypoplasia, Primary mic...	OMIM:607196
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,...	OMIM:613670
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Band Heterotopia	Polymicrogyria, Subcortical band heterotopia, Lateral ventricle dilatation, Agenesis of corpus ca...	OMIM:600348
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Obesity, Polyphagia	ORPHA:329249
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Failure to thrive, Cerebral atrophy, Hypoplasia of the corpus callo...	OMIM:600118
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti...	OMIM:218670
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Corneal opacity	ORPHA:93476
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Intellectual Developmental Disorder, Autosomal Recessive 46	Self-injurious behavior, Large for gestational age, Aggressive behavior, Agitation, Synophrys	OMIM:616116
Hsd10 Disease	Frontotemporal cerebral atrophy, Postnatal growth retardation, Short attention span, Focal white ...	ORPHA:391417
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Aggressive behavior, Deliri...	ORPHA:208441
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Septo-optic dysplasia, Lissence...	ORPHA:1528
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Jaundice, Splenomegaly	ORPHA:79238
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Red hair	ORPHA:71526
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum	ORPHA:2508
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Winchester Syndrome	Corneal opacity	OMIM:277950
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Self-mutilation, Agenesis of corpus callosum, Cereb...	OMIM:605013
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Spinocerebellar Ataxia Type 27	Depression, Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive...	ORPHA:98764
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Autosomal Recessive Primary Microcephaly	Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum	ORPHA:2512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca...	OMIM:613153
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Trichothiodystrophy 9, Nonphotosensitive	Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy	OMIM:619692
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity, Polyphagia	OMIM:618406
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Episodic ataxia, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly...	OMIM:312170
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Familial Cold Urticaria	Polydipsia, Hyperhidrosis	ORPHA:47045
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Intellectual Developmental Disorder, X-Linked 108	Attention deficit hyperactivity disorder, Overweight, High anterior hairline	OMIM:301024
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Hypohidrosis, Pi...	OMIM:602400
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Motor stereotypy, Imp...	OMIM:301029
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618603
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow	OMIM:309585
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Glutathionuria	Dysdiadochokinesis, Agenesis of corpus callosum	OMIM:231950
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ...	OMIM:304100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Small for gestational age	ORPHA:3363
Delpire-Mcneill Syndrome	Cortical dysplasia, Dysphagia, Agenesis of corpus callosum	OMIM:619083
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr...	OMIM:224750
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypopigmentation of hair	ORPHA:177910
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Ataxia	OMIM:245349
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Anhi...	OMIM:604536
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Agenesis of corpus callosum	OMIM:610498
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair	OMIM:618625
Heyn-Sproul-Jackson Syndrome	Sparse hair, Decreased body weight	OMIM:618724
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Lateral ventricle dilatation, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:619517
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Hyperactivity, Fine hair	OMIM:300406
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Decreased body weight, Dysplastic corpus callosum, Agenesis of corpus callosum, M...	OMIM:614833
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Ochoa Syndrome	Polydipsia	ORPHA:2704
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Obesity, Sparse facial hair	ORPHA:2183
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Ascites, Corneal opacity	ORPHA:87876
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Short attention span, Hypoplasia of the corpus callosum, Attention deficit hyperactivity...	ORPHA:444002
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Failure to thrive, Decreased body weight, Microcephaly, Partial agenesis of the corpus callosum, ...	OMIM:618346
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Hypopigmentation of hair	ORPHA:411515
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Anemia, Thrombocytopenia, Corneal opacity...	ORPHA:290
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior, Hyperactivity	ORPHA:436151
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Akinesia, Agenesis of corpus callos...	OMIM:225790
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebral cortical atrophy, Difficulty walking, Abnormal periventricular white matter morphology, ...	ORPHA:280763
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microliss...	ORPHA:89844
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Cerebral atrophy, Inability to walk, Obesity, Hypoplasia of the corpus callosum...	OMIM:616756
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Lissencephaly 7 With Cerebellar Hypoplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly	OMIM:616342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Hypohidrosis, Sparse ...	ORPHA:1660
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Congenital Neuronal Ceroid Lipofuscinosis	Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesis of corpus callosum, Cerebella...	ORPHA:168486
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Hypohidrosis, Sparse hair, Sparse body hair	ORPHA:1810
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Aggressive ...	ORPHA:261229
Bardet-Biedl Syndrome 17	Anosmia, Obesity, Polydipsia, Hyposmia	OMIM:615994
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Lissencephaly 6 With Microcephaly	Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencephaly, Pachygyria, ...	OMIM:616212
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Global brain atrophy, Failure to thrive, Hypoplasia of the brainstem, Difficulty walking, Inabili...	ORPHA:481152
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P...	OMIM:616819
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:617914
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai...	OMIM:613102
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Leukoencephalopathy, Cerebral atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microc...	OMIM:620428
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Nephronophthisis 4	Polydipsia	OMIM:606966
Perry Syndrome	Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Disinhibition, Weight...	OMIM:168605
Hawkinsinuria	Sparse hair, Restlessness, Failure to thrive	OMIM:140350
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Aplasia/Hypoplasi...	ORPHA:2930
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Agenesis of corpus callosum	OMIM:615433
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Eye of the tiger anomaly of globus pallidus, Cerebral atrophy, Akinesia, Ag...	OMIM:300894
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis, Sparse body hair	ORPHA:181
Spastic Paraplegia 47, Autosomal Recessive	Inability to walk, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal...	OMIM:614066
6Q25 Microdeletion Syndrome	Microcephaly, Failure to thrive, Agenesis of corpus callosum	ORPHA:251056
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Primary microcephaly, No...	ORPHA:466688
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:604804
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria, ...	OMIM:620316
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder, Ataxi...	OMIM:619320
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atr...	OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:300887
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:164180
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Jaundice, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia,...	OMIM:603552
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Difficulty walking, Cerebral calcification, Inappropriate laughter, Agenesi...	OMIM:618476
Septo-Optic Dysplasia Spectrum	Anosmia, Obesity, Hypohidrosis, Polydipsia	ORPHA:3157
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair, Abdominal obesity	ORPHA:631
Mucolipidosis Iv	Opacification of the corneal stroma, Abnormal abdomen morphology, Corneal opacity	OMIM:252650
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Inability to walk, Partial agenesis of the corpus callosum, Thin corpus callosum, Choreoathetosis	OMIM:619653
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Failure to thrive, Secondary microcephaly, Agenesis of corp...	OMIM:620352
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Ring Chromosome 22 Syndrome	Inappropriate behavior, Gait ataxia, Absent septum pellucidum, Agenesis of corpus callosum, Micro...	ORPHA:1446
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Tall stature, Emotional lability, Reduced social reciprocity, Agenesis of corpus callosum, Low fr...	OMIM:309520
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Secondary micro...	ORPHA:500144
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Holoprosencephaly 11	Microcephaly, Agenesis of corpus callosum	OMIM:614226
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Abnormal hair whorl, Nail dystrophy, Hirsutism, Increased body weight, A...	OMIM:300860
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:614583
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Hyperhidrosis	OMIM:613576
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:307000
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618577
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Hypohidrosis, Pili torti, Sparse hair, Trichoepithelioma	OMIM:301845
Spinocerebellar Ataxia 21	Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme...	OMIM:607454
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Intellectual Developmental Disorder With Autism And Macrocephaly	Tall stature, Pica, Overweight, Recurrent hand flapping	OMIM:615032
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Obesity, Aggressive behavior, Self-mutilation	OMIM:616521
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Houge-Janssens Syndrome 2	Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, M...	OMIM:616362
Trichohepatoenteric Syndrome 2	Failure to thrive, Trichorrhexis nodosa, Woolly hair, Uncombable hair, Brittle hair, Sparse hair,...	OMIM:614602
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi...	ORPHA:3077
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive	OMIM:304800
Joubert Syndrome 30	Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:617622
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypopl...	OMIM:617669
Hereditary Late-Onset Parkinson Disease	Mental deterioration, Cerebral cortical atrophy, Depression, Shuffling gait, Akinesia, Lewy bodie...	ORPHA:411602
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Radio-Tartaglia Syndrome	Obesity, Gait imbalance, Agenesis of corpus callosum, Microcephaly, Attention deficit hyperactivi...	OMIM:619312
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Agenesis of corpus callosum,...	OMIM:619244
Alpha-Mannosidosis	Hepatomegaly, Cataract, Splenomegaly, Corneal opacity	ORPHA:61
4Q21 Microdeletion Syndrome	Self-injurious behavior, Motor stereotypy, Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:238750
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Hydrolethalus Syndrome 2	Anencephaly, Agenesis of corpus callosum	OMIM:614120
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight, Bulimia	OMIM:614651
Chung-Jansen Syndrome	Obesity, Thick eyebrow, Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivit...	OMIM:617991
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Obesity, Agenesis of corpus callosum, Overgrowth, Aggressive behavior, Partial agenesis of the co...	OMIM:620250
2Q32Q33 Microdeletion Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Fine hair	ORPHA:251019
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Failure to thrive, Cerebral atrophy, Inappropriate laughter, Hypopl...	OMIM:615802
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Sparse pubic hair, Abnormality of the sense of smell	OMIM:146110
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Aggressive behavior, Dysphagia, Dandy-Walker ...	OMIM:619435
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Failure to thrive, Cognitive impairment, Agenesis of corpus ca...	OMIM:613735
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Obesity Due To Sim1 Deficiency	Attention deficit hyperactivity disorder, Polyphagia, Obesity	ORPHA:369873
Immunodeficiency 61	Attention deficit hyperactivity disorder, Obesity	OMIM:300310
Xp22.13P22.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Sparse hair, High anterior hairline, Truncal obesity	ORPHA:284180
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Attention deficit hyperactivity disorder, Impulsivity, Synophrys	ORPHA:589905
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Failure to thrive, Slender build, Sparse axillary hair, Sparse facial hair, Small for gestational...	OMIM:608154
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:616602
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ...	OMIM:620156
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow	ORPHA:171829
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Dysphagia, Failure to thrive	OMIM:620001
Leptin Receptor Deficiency	Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia	OMIM:614963
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor...	ORPHA:86822
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Motor stereotypy, Sma...	OMIM:613174
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Pediatric-Onset Graves Disease	Polydipsia, Failure to thrive, Polyphagia, Hyperhidrosis, Hyperactivity	ORPHA:525731
Filippi Syndrome	Frontal hirsutism, Hypertrichosis, Sparse hair, Decreased body weight	OMIM:272440
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618142
Cystinosis	Polydipsia, Motor stereotypy, Failure to thrive	ORPHA:213
Autosomal Recessive Spastic Paraplegia Type 11	Mental deterioration, Cerebral cortical atrophy, Memory impairment, Lateral ventricle dilatation,...	ORPHA:2822
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Obesity, Spastic gait, Partial agen...	OMIM:617296
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Nephronophthisis 1	Polydipsia	OMIM:256100
Trichotillomania	Compulsive behaviors, Alopecia, Hair-pulling	OMIM:613229
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Joubert Syndrome 10	Obesity, Frequent temper tantrums, Hirsutism, Decreased body weight, Polyphagia	OMIM:300804
East Syndrome	Salt craving, Polydipsia	ORPHA:199343
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Inability to walk, Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Depression, Failure to thrive, Obesity, Absent septum pellucidum, Agen...	ORPHA:96147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:615249
Intellectual Developmental Disorder, Autosomal Recessive 65	Gait ataxia, Hypoplasia of the corpus callosum, Aggressive behavior, Unsteady gait, Partial agene...	OMIM:618109
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Low posterior hairline, Obesity, Abnormal hair quantity	ORPHA:2233
Body Mass Index Quantitative Trait Locus 19	Anosmia, Obesity, Polyphagia, Hyposmia	OMIM:617885
Baraitser-Winter Syndrome 1	Failure to thrive, Postnatal growth retardation, Agenesis of corpus callosum, Microcephaly, Pachy...	OMIM:243310
Progeroid Syndrome, Petty Type	Failure to thrive, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Gen...	ORPHA:2963
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Attention deficit hyperactivity disorder, Obesity	OMIM:618725
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Sparse eyebrow, Aggressive behavior, Hyperactivity, Curly hair, Sparse h...	OMIM:620075
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...

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Gene: Itpr3 MGI:96624

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IMPC Phenotype Summary

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lacZ Expression

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Human diseases caused by Itpr3 mutations