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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
enlarged spleen	Itpr3^em1(IMPC)Mbp	HOM	Early adult	0.00
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
corneal opacity	Itpr3^em1(IMPC)Mbp	HOM	Early adult	5.67×10^-05
abnormal spleen morphology	Itpr3^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 (1358 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		Polydipsia, Polyphagia	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
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	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 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Aggressive behavior, Inability to walk, Simplified gyral ...	OMIM:618492
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene...	OMIM:618286
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Autosomal Recessive Spastic Paraplegia Type 67	Aplasia/Hypoplasia of the cerebellar vermis, Spastic gait, Difficulty walking, Agenesis of corpus...	ORPHA:401820
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Lissencephaly 3	Agyria, Ataxia, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Foxg1 Syndrome	Decreased body weight, Inability to walk, Abnormal repetitive mannerisms, Bruxism, Stereotypical ...	ORPHA:561854
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Part...	OMIM:615771
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Masa Syndrome	Agenesis of corpus callosum, Gait disturbance	ORPHA:2466
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Unsteady gait, Agenesis of corpus...	OMIM:617542
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c...	OMIM:605899
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so...	ORPHA:300570
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Abnormal repet...	OMIM:617695
Obesity And Hypopigmentation	Red hair, Overgrowth, Polyphagia, Obesity	OMIM:620195
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Obesity, Tip-toe gait, Cerebral cortica...	OMIM:604360
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microcephaly, Cerebral atrophy, Failure to thrive, Agenesis of corpus callosum	OMIM:274270
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
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Microcephaly 16, Primary, Autosomal Recessive	Decreased body weight, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Dysphagia, Microcephaly	OMIM:619025
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Gait ataxia	OMIM:616540
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum, Aggressive behavior	OMIM:619548
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ...	ORPHA:572013
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Inability to walk, Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Tall stature	OMIM:613163
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Spinocerebellar Ataxia 23	Agenesis of corpus callosum, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C...	OMIM:619302
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
11P15.4 Microduplication Syndrome	Synophrys, Obesity, Highly arched eyebrow, Aggressive behavior	ORPHA:300305
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Masa Syndrome	Agenesis of corpus callosum, Shuffling gait, Microcephaly	OMIM:303350
Syndromic X-Linked Intellectual Disability 7	Obesity, Sparse body hair	ORPHA:85274
Galactosialidosis	Corneal opacity	ORPHA:351
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Manganese Poisoning	Confusion, Akinesia, Aggressive behavior, Abnormal globus pallidus morphology, Hypersexuality, De...	ORPHA:306682
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Morquio Syndrome C	Corneal opacity	OMIM:252300
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Lissencephaly Due To Tuba1A Mutation	Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ...	ORPHA:171680
Aredyld	Generalized hypotrichosis	OMIM:207780
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Gand Syndrome	Sparse hair, Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cerebellar at...	ORPHA:453521
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Aggressive behavior, Microcephaly, Failure to thrive, Agenesis of corpus callosum	OMIM:615286
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Dysmetria, Irritability, Truncal ataxia, Failure to thrive, Agenesis of corpus callosum	OMIM:250620
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Imagawa-Matsumoto Syndrome	Birth length greater than 97th percentile, Overgrowth, Polymicrogyria, Agenesis of corpus callosu...	OMIM:618786
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Caudate atrophy, Failure to thrive, Agenesis of corpus callosum	OMIM:618238
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Bardet-Biedl Syndrome 9	Truncal obesity, Polydipsia, Polyphagia, Obesity	OMIM:615986
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Cerebellar hypoplasia, Thin corpus callosum	OMIM:620270
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebr...	OMIM:615095
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Sparse body hair	ORPHA:261483
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Teratoma, Pineal	Polydipsia	OMIM:273120
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Aggressive behavior, Synophrys, Self-injurious behavior, Agitation	OMIM:616116
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Microcephaly, Inability to walk, Partial agenesis of the corpu...	ORPHA:79243
Band Heterotopia	Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr...	OMIM:600348
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Irritability, Cerebellar h...	OMIM:607196
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Postnatal growth retardation, Choreoathetosis, Fronto...	ORPHA:391417
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:93476
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb...	ORPHA:208441
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:1528
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Cataract	ORPHA:79238
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Red hair, Failure to thrive, Polyphagia, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Red hair, Failure to thrive, Polyphagia, Childhood-onset truncal obesity	ORPHA:71526
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F...	ORPHA:2985
Winchester Syndrome	Corneal opacity	OMIM:277950
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Microhydranencephaly	Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac...	OMIM:605013
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty...	ORPHA:98764
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Cerebral atrophy, Choreoathetosis, Basal ganglia cysts, ...	OMIM:312170
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra...	OMIM:613153
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Tall stature	OMIM:618406
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Familial Cold Urticaria	Polydipsia, Hyperhidrosis	ORPHA:47045
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ...	OMIM:618603
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair	OMIM:618535
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Glutathionuria	Dysdiadochokinesis, Agenesis of corpus callosum	OMIM:231950
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow	OMIM:309585
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair...	OMIM:224750
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Small for gestational age	ORPHA:3363
Shukla-Vernon Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal...	OMIM:301029
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:304100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body w...	OMIM:614833
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum, Dysphagia	OMIM:619083
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Polyphagia, Obesity	ORPHA:177910
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Unsteady gait, Ataxia, Microcephaly	OMIM:245349
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Intellectual Developmental Disorder, X-Linked 108	Overweight, High anterior hairline, Attention deficit hyperactivity disorder	OMIM:301024
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys...	OMIM:604536
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse...	OMIM:602400
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Agenesis of corpus callosum	OMIM:610498
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline	ORPHA:2183
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Obesity, Compulsive behaviors, Hypoplasia of the corpus callosum, Attention...	ORPHA:444002
Heyn-Sproul-Jackson Syndrome	Sparse hair, Decreased body weight	OMIM:618724
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Fg Syndrome 3	Sparse hair, Hyperactivity, Frontal upsweep of hair, Fine hair	OMIM:300406
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Ochoa Syndrome	Polydipsia	ORPHA:2704
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Ascites, Corneal opacity	ORPHA:87876
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Decreased body ...	OMIM:618346
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Jaundice, Aplasia/Hypopl...	ORPHA:290
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Microcephaly, Shyness, Overweight, Hypoplasia of the corpus callosum, Difficulty w...	ORPHA:280763
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Ataxia, Microcephaly, Inability to walk, Obesity, Cerebral atrop...	OMIM:616756
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Dysphagia, Hypoplasia of the...	ORPHA:89844
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Poly...	OMIM:225790
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Dermoodontodysplasia	Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse...	ORPHA:1660
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis	ORPHA:1810
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Bardet-Biedl Syndrome 17	Hyposmia, Polydipsia, Anosmia, Obesity	OMIM:615994
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Po...	ORPHA:261229
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia...	OMIM:616819
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Perry Syndrome	Akinesia, Frontotemporal dementia, Depression, Weight loss, Inappropriate behavior, Disinhibition...	OMIM:168605
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Aggressive behavior, Inability to walk, Irritability, Hypoplasia of the brainstem, Global...	ORPHA:481152
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Dystrophic to...	ORPHA:2930
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:615433
Hawkinsinuria	Sparse hair, Restlessness, Failure to thrive	OMIM:140350
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Aggressive behavior, Cerebral atrophy, Dementia, Eye of the tiger anomaly of globus pal...	OMIM:300894
Nephronophthisis 4	Polydipsia	OMIM:606966
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis	ORPHA:181
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Microcephaly, Shyness, Inability to walk, Overweight, Hypoplasia of the corpus cal...	OMIM:614066
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Nonprogressive cerebellar ataxia, Primary microcephal...	ORPHA:466688
6Q25 Microdeletion Syndrome	Failure to thrive, Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic deterioration, Microc...	OMIM:214150
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Agen...	OMIM:619320
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Hyperintensity of cerebral white matter on MRI, Inappropriate lau...	OMIM:618476
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:164180
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis, Hemophag...	OMIM:603552
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Septo-Optic Dysplasia Spectrum	Polydipsia, Anosmia, Obesity, Hypohidrosis	ORPHA:3157
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Abnormality of the sense of smell, Weight loss, A...	ORPHA:399
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Irritability, Colpocephaly, Secondary microcephaly, Choking...	OMIM:620352
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Choreoathetosis, Inability to walk, Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Mucolipidosis Iv	Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, D...	ORPHA:500144
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Disproportionate tall stature, Low frustration tolerance, Com...	OMIM:309520
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Gait ataxia, Inappropriate behavior, Agenesis of corpus c...	ORPHA:1446
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Hyperhidrosis	OMIM:613576
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin...	OMIM:300860
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:307000
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Bazex-Dupre-Christol Syndrome	Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel...	OMIM:607454
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O...	ORPHA:3077
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corp...	OMIM:616362
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th...	OMIM:614602
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan...	ORPHA:240094
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Depression, Weight loss, Dementia, Agitation, Shuffling gait, Low frustrat...	ORPHA:411602
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive	OMIM:125800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,...	OMIM:617669
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive	OMIM:304800
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at...	OMIM:619244
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Microcephaly, Aggressive behavior, Abnormal repetitive mannerisms, Obesity, ...	OMIM:619312
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Alpha-Mannosidosis	Splenomegaly, Hepatomegaly, Cataract, Corneal opacity	ORPHA:61
4Q21 Microdeletion Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Cerebellar ...	ORPHA:238750
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Anencephaly	OMIM:614120
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Synophrys, Obesity, Attention deficit hyperactivity disorder, T...	OMIM:617991
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Partial agenesis of the corpus callosum, Obesity, Overgrowth, Agenesis of co...	OMIM:620250
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:251019
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum, Inappr...	OMIM:615802
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair, Abnormality of the sense of smell	OMIM:146110
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Leptin Receptor Deficiency	Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior	OMIM:614963
Nephronophthisis 3	Polydipsia	OMIM:604387
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Athetosis, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619435
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:616602
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Synophrys	ORPHA:589905
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk...	ORPHA:2822
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis, Decreased body weight	OMIM:272440
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cognitive impa...	OMIM:613735
Xp22.13P22.2 Duplication Syndrome	Sparse hair, Truncal obesity, High anterior hairline, Attention deficit hyperactivity disorder	ORPHA:284180
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
6Q16 Microdeletion Syndrome	Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Pediatric-Onset Graves Disease	Hyperactivity, Hyperhidrosis, Polydipsia, Failure to thrive, Polyphagia	ORPHA:525731
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Self-injurious behavior, Agenesis of corpus callosum, Compulsive behav...	OMIM:613174
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Failure to thrive, Dysphagia	OMIM:620001
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b...	OMIM:608154
Cystinosis	Polydipsia, Failure to thrive, Abnormal repetitive mannerisms	ORPHA:213
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
East Syndrome	Polydipsia, Salt craving	ORPHA:199343
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ...	OMIM:620156
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:615249
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Nephronophthisis 1	Polydipsia	OMIM:256100
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia, Polyphagia, Obesity	OMIM:617885
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Inability to walk, Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Obesity, Depression, Irritability, Subcortical cerebral a...	ORPHA:96147
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	OMIM:620010
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Obesity, Low posterior hairline	ORPHA:2233
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio...	OMIM:620075
Baraitser-Winter Syndrome 1	Failure to thrive, Microcephaly, Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesi...	OMIM:243310
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Semantic dementia, Disinhibition...	ORPHA:1020
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Chiari Malformation Type Ii	Agenesis of corpus callosum, Ataxia, Dysphagia	OMIM:207950
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Intellectual Developmental Disorder, Autosomal Recessive 65	Aggressive behavior, Partial agenesis of the corpus callosum, Unsteady gait, Gait ataxia, Hypopla...	OMIM:618109
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair	OMIM:614940
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Di...	ORPHA:370959
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Anosmia, Hypohidrosis, Sparse hair, Failure to thrive	ORPHA:2316
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Small for gestational age, Sparse body hair	OMIM:300869
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Pac...	OMIM:617595
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Nephrogenic Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia	ORPHA:223
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Increased body weight, Hyperhidrosis	ORPHA:276608
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Obesity, Secondary microcephaly, Periventricular white matter hyperin...	OMIM:619737
Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity	ORPHA:93474
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
Temtamy Syndrome	Self-mutilation, Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ...	OMIM:620073
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Gm2 Gangliosidosis, Ab Variant	Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate beh...	ORPHA:309246
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Microcephaly, Irritability, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Overgrowth, High anterior hairline, Polyphagia, Hirsutism	OMIM:616831
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Gait disturbance, Hypoplasia of th...	ORPHA:363528
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	OMIM:175700
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:616975
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Craniofacial Dyssynostosis With Short Stature	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Obesity Due To Sim1 Deficiency	Polyphagia, Obesity, Attention deficit hyperactivity disorder	ORPHA:369873
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail...	ORPHA:140936
Nephronophthisis 11	Polydipsia	OMIM:613550
Smith-Magenis Syndrome	Hyperactivity, Synophrys, Self hugging, Increased body weight, Head-banging, Onychotillomania, Ab...	OMIM:182290
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Impaired social interactio...	OMIM:619775
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Ataxia, Microcephaly, Abnormal eating behavior, Abnormal dri...	ORPHA:209905
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Polyphagia, Obesity	OMIM:609734
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Apparent Mineralocorticoid Excess	Polydipsia, Failure to thrive	ORPHA:320
Spinocerebellar Ataxia Type 21	Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d...	OMIM:618872
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria	ORPHA:101030
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos...	ORPHA:905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Cessatio...	ORPHA:98794
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Microcephaly 13, Primary, Autosomal Recessive	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyra...	OMIM:616051
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Neurofibrillary tangles, Dementia, Mental deterioration, Lewy bodies, Cerebral cortical...	OMIM:616840
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity, Sparse body hair	ORPHA:2234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Polydipsia, Hirsutism, ...	ORPHA:769
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Small for gestational age, Thick eyebrow	OMIM:611091
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Impulsivity, Agenesis of corpus callosum, Attention deficit hyperactivit...	OMIM:618929
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Decreased body weig...	OMIM:609053
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity	ORPHA:812
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Small for gestational age, Dysphagia	OMIM:618253
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Visceromegaly	ORPHA:93399
Olmsted Syndrome 1	Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un...	OMIM:614594
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia, Hypohidrosis	ORPHA:884
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Obesity, Self-injurious behavior, Skin...	OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Bruxism, Stereotypical hand wringing, Microcephaly	OMIM:612337
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephaly, Secondary mi...	OMIM:620113
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Impulsivity, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai...	ORPHA:240071
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Long eyelashes	OMIM:620191
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Failure to thrive in infancy, Microcephaly, Postnatal growth retardation, Tongue t...	ORPHA:261323
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Attention d...	ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th...	OMIM:614924
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of...	OMIM:619720
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Ataxia, Microcephaly, Abnormal temper tantrums,...	ORPHA:530983
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia	ORPHA:369929
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Helix Syndrome	Anhidrosis, Polydipsia, Hypohidrosis	OMIM:617671
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Cataract, Corneal opacity	ORPHA:585
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Thinning of the substantia nigra pars compacta, Akinesia	OMIM:619911
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Marden-Walker Syndrome	Microcephaly, Postnatal growth retardation, Hypoplasia of the brainstem, Cerebellar hypoplasia, I...	OMIM:248700
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Hyperinsulinism Due To Ucp2 Deficiency	Episodic hyperhidrosis, Agitation, Polyphagia, Large for gestational age	ORPHA:276556
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Obesity	OMIM:614613
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Corticobasal Syndrome	Memory impairment, Dementia, Gait disturbance, Akinesia	ORPHA:454887
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Aggressive behavi...	OMIM:619075
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Whipple Disease	Cachexia, Polydipsia, Anorexia	ORPHA:3452
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Hyperhidrosis, Sparse hair, Alopecia of scalp	OMIM:615280
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia	OMIM:606693
Postencephalitic Parkinsonism	Abnormal substantia nigra morphology, Akinesia, Depression, Dysphagia, Abnormal aggressive, impul...	ORPHA:97349
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Failure to thrive, Ataxia, Anorexia, Periventricular cysts, Tip-to...	ORPHA:3008
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Episodic hyperhidrosis, Agitation, Polyphagia	ORPHA:324575
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Halperin-Birk Syndrome	Inability to walk, Colpocephaly, Pseudobulbar paralysis, Failure to thrive, Agenesis of corpus ca...	OMIM:618651
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum	OMIM:109120
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis	ORPHA:100976
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Short attention span, Lateral ventricle dilatation, Diminished ability to concent...	OMIM:612863
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair	OMIM:224900
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leu...	OMIM:617360
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Low frustration tolerance, Progressive langu...	ORPHA:163681
Melas	Short attention span, Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calc...	ORPHA:550
Congenital Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Developmental cataract, Ascites	ORPHA:93400
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb...	OMIM:234200
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:899
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasi...	OMIM:301056
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Choreoacanthocytosis	Caudate atrophy, Compulsive behaviors, Loss of ambulation, Small basal ganglia, Self-mutilation o...	ORPHA:2388
Sotos Syndrome	Aggressive behavior, Partial agenesis of the corpus callosum, Increased body weight, Overgrowth, ...	OMIM:117550
Supranuclear Palsy, Progressive, 2	Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration, ...	OMIM:609454
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Cor...	ORPHA:468631
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Cerebral calcification, Small for gestational age, Akinesia, Microcephaly, Leukoencephalopathy, F...	OMIM:619147
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Alexander Disease	Cerebral calcification, Ataxia, Megalencephaly, Depression, Self-injurious behavior, Gait disturb...	ORPHA:58
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im...	ORPHA:247234
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Progressive ...	ORPHA:506
Hyperparathyroidism, Neonatal Severe	Polydipsia, Failure to thrive	OMIM:239200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Jaundice, Increased mean corpu...	OMIM:194380
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity	OMIM:607015
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Dystrophic toenail, Nail dystrophy, Spa...	ORPHA:3253
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Hyper...	OMIM:257980
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Gait disturbance, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Hydrolethalus	Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Emanuel Syndrome	Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Dysphagia, Failure to ...	ORPHA:96170
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Salt craving	OMIM:612780
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Kleefstra Syndrome	Microcephaly, Aggressive behavior, Obesity, Agenesis of corpus callosum, Self-injurious behavior,...	ORPHA:261494
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Scheie Syndrome	Corneal opacity	OMIM:607016
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Supranuclear Palsy, Progressive, 1	Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo...	OMIM:601104
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly	OMIM:205400
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Corneal opacity, Hepatitis	ORPHA:584
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Small for gestational age	OMIM:610756
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Monosomy 13Q34	Agenesis of corpus callosum, Obesity, Microcephaly	ORPHA:96168
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Trichothiodystrophy 1, Photosensitive	Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy,...	OMIM:601675
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Aggressive behavior, Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Ab...	OMIM:212066
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral ventricle dilatat...	ORPHA:464738
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Failure to thrive, Nail dystrophy, Hypohidrosis	ORPHA:98813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the pyramidal tract, Pachygyria, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:253800
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairline, Hir...	ORPHA:247768
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hai...	ORPHA:217346
Joubert Syndrome 37	Sparse hair, Obesity	OMIM:619185
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen...	ORPHA:31150
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Small for gestational age, Fine hair	OMIM:616817
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Desmosterolosis	Failure to thrive, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria...	ORPHA:35107
Fanconi Anemia, Complementation Group S	Sparse hair, Failure to thrive, Low anterior hairline, Long eyelashes	OMIM:617883
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Failure to thrive, Overgrowth, Hyperconvex nail	OMIM:619721
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair	ORPHA:659
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Microcephaly, Anencephaly, Agenesi...	OMIM:619148
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp...	ORPHA:391408
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:615219
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Corneal opacity	OMIM:272200
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Aceruloplasminemia	Ataxia, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Memory impairment, Abnormal cor...	ORPHA:48818
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Farber Disease	Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hepatosplenom...	ORPHA:333
Duplication Of The Pituitary Gland	Microcephaly, Hypoplasia of olfactory tract, Decreased body weight, Agenesis of corpus callosum, ...	ORPHA:314621
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Gitelman Syndrome	Failure to thrive, Polydipsia, Salt craving	OMIM:263800
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Senior-Boichis Syndrome	Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:84081
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu...	OMIM:614643
Distal 16P11.2 Microdeletion Syndrome	Low anterior hairline, Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Truncal obesity, Thick eyebrow	ORPHA:127
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Microcephaly, Postnatal growth retardation, Hypodysplasia of the corpu...	OMIM:257300
1Q21.1 Microdeletion Syndrome	Microcephaly, Depression, Attention deficit hyperactivity disorder, Failure to thrive, Agenesis o...	ORPHA:250989
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Chromosome 14Q11-Q22 Deletion Syndrome	Failure to thrive, Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Pachygyria...	OMIM:613457
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Failure to thrive, Fragile nails	OMIM:242150
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive	OMIM:617988
Oligomeganephronia	Polydipsia, Small for gestational age	ORPHA:2260
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased body weight, Hirsutism	OMIM:615830
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Attention defic...	OMIM:618891
Bainbridge-Ropers Syndrome	Failure to thrive, Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Synophrys, Self-in...	OMIM:615485
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Aggress...	ORPHA:544488
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Xp21 Deletion Syndrome	Agenesis of corpus callosum, Confusion	ORPHA:261476
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Partial agen...	OMIM:619512
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Tics, Sparse hair, Failure ...	OMIM:616364
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Microcephaly	ORPHA:261236
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Abcd Syndrome	Albinism, White eyelashes, White eyebrow, Large for gestational age	OMIM:600501
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Gait disturbance	ORPHA:1812
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ...	ORPHA:96092
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Zellweger Syndrome	Hepatomegaly, Cataract, Corneal opacity, Brushfield spots, Jaundice, Posterior embryotoxon	ORPHA:912
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Microcephaly, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavio...	OMIM:616393
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Toriello-Carey Syndrome	Microcephaly, Postnatal growth retardation, Partial agenesis of the corpus callosum, Cerebral atr...	ORPHA:3338
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Failure to thrive, Impulsivity, Microcephaly, Aggressive behavior,...	ORPHA:500055
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Failure to thrive, ...	OMIM:605039
Panhypophysitis	Polydipsia	ORPHA:95513
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Orofaciodigital Syndrome V	Overfriendliness, Agenesis of corpus callosum, Microcephaly	OMIM:174300
Fumarase Deficiency	Failure to thrive, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Po...	OMIM:606812
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Erdheim-Chester Disease	Hyperhidrosis, Polydipsia, Weight loss	ORPHA:35687
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop...	OMIM:613150
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly	ORPHA:349
Hurler Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Opacification ...	OMIM:607014
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Trisomy 1Q	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, H...	OMIM:219800
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased body weight	OMIM:614450
Glass Syndrome	Restlessness, Hyperactivity, Aggressive behavior, Long eyelashes, Nail dysplasia, Sparse hair, Fr...	OMIM:612313
Gaucher Disease, Perinatal Lethal	Akinesia, Microcephaly, Progressive neurologic deterioration, Dysphagia, Decreased body weight	OMIM:608013
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Lowry-Maclean Syndrome	Developmental glaucoma, Abnormality of the abdominal organs, Megalocornea, Corneal opacity	ORPHA:2409
Hypomagnesemia 3, Renal	Polydipsia, Failure to thrive	OMIM:248250
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog...	ORPHA:309271
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Agenesis of corpus callosum	OMIM:618733
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Dysphagia	ORPHA:537
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Hyperactivity, Sparse scalp hair, Large for gestational age, Loose anagen hair, Long ...	OMIM:607721
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum	ORPHA:77298
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Pseudo-Torch Syndrome 1	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Thrombocytop...	OMIM:251290
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Marchiafava-Bignami Disease	Addictive alcohol use, Aggressive behavior	ORPHA:221074
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair, Decreased body weight	OMIM:616200
Insulinoma	Polyphagia, Increased body weight, Hyperhidrosis	ORPHA:97279
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ...	OMIM:617388
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Methanol Poisoning	Addictive alcohol use	ORPHA:31825
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Failure to thrive	ORPHA:420794
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion...	ORPHA:1830
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e...	OMIM:305100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Acromelic Frontonasal Dysplasia	Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Dys...	OMIM:150400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Obesity, Hypohidrosis, Self-injurious behavior, Compulsive behaviors, Polydi...	ORPHA:293987
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum	ORPHA:48652
Parkinson Disease 17	Akinesia	OMIM:614203
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Dpagt1-Cdg	Ataxia, Akinesia, Microcephaly, Aggressive behavior, Inability to walk, Head-banging, Stereotypic...	ORPHA:86309
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Gm1 Gangliosidosis	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:354
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains...	OMIM:236670
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Infantile Nephropathic Cystinosis	Polydipsia, Failure to thrive	ORPHA:411629
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Failure to thrive, Agenesis of cerebellar vermis, Focal hypointensity of cerebr...	ORPHA:261552
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Cachexia, Aggressive behavior, Abnormal hair pattern, Synophrys, Obesity, Hyperhid...	ORPHA:85293
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Small for gestational age, Macrogyria, Athetosis, Colpocephaly, Cerebellar hyp...	OMIM:614866
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrosis, Hypohidrosis, Aplasia of the sweat glands, Sparse hair, Failure to...	OMIM:612132
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Depression, Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical...	ORPHA:847
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Congenital Myopathy 12	Small for gestational age, Akinesia	OMIM:612540
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dysphagia, Microcephaly	OMIM:300000
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperhidrosis, Agitation, Increased body weight, Large for gestational age	ORPHA:263455
Adiposis Dolorosa	Sparse pubic hair, Obesity, Sparse axillary hair	ORPHA:36397
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair	OMIM:607626
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l...	ORPHA:309263
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Hypohidrosis, Abnormal toenail morphology	ORPHA:1005
Mosaic Trisomy 8	Agenesis of corpus callosum, Tall stature	ORPHA:96061
Acute Lung Injury	Addictive alcohol use	ORPHA:178320
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Failure to thrive	OMIM:219150
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia	OMIM:618249
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia	ORPHA:1133
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Fine hair, Sparse hair, Polyphagia, Self-mutilation	ORPHA:251028
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis...	OMIM:269200
Curry-Jones Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hemimegalencephaly, Megalencephaly	OMIM:601707
Pseudotrisomy 13 Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:264480
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Desmosterolosis	Failure to thrive, Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of t...	OMIM:602398
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
15Q Overgrowth Syndrome	Overgrowth, Agenesis of corpus callosum, Disproportionate tall stature, Dandy-Walker malformation	ORPHA:314585
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Small for gestational age, Thin nail, Aggressive behavior, Bruxism, Sparse hair	OMIM:617799
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Postnatal growth retardation, Dysphag...	OMIM:242840
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Difficulty walking	OMIM:618748
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair	OMIM:268020
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Cal...	OMIM:603671
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Tongue thrusting, Low posterior ...	OMIM:115150
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema, Sparse hair, Failure to thrive	OMIM:615934
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Failure to thrive	OMIM:613026
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Familial Dysautonomia	Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hete...	ORPHA:1764
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Isolated Osteopoikilosis	Addictive alcohol use	ORPHA:166119
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Dysphagia, Irritability, Secondary microcephaly, Hypoplasia of the c...	ORPHA:447997
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Anencephaly, Abnorma...	OMIM:615287
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Failure to thrive, Agenesis of corpus callosum,...	OMIM:277170
Coffin-Siris Syndrome	Hyperactivity, Microcephaly, Postnatal growth retardation, Aggressive behavior, Simplified gyral ...	ORPHA:1465
Parathyroid Carcinoma	Polydipsia, Weight loss, Dysphagia	ORPHA:143
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Weaver Syndrome	Deep-set nails, Thin nail, Fine hair, Overgrowth, Sparse hair, Polyphagia	OMIM:277590
Opitz Gbbb Syndrome	Short attention span, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of th...	ORPHA:2745
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv...	ORPHA:1071
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair	OMIM:613451
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyp...	OMIM:227646
Fetal Akinesia Deformation Sequence	Dandy-Walker malformation, Akinesia	ORPHA:994
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior,...	ORPHA:309256
Wolfram Syndrome	Polydipsia	ORPHA:3463
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper ...	ORPHA:398069
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive	ORPHA:18
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten...	OMIM:618820
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Small for gestational age, Microcephaly, Postnatal growth retardation, Inappropria...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Small for gestational age, Microcephaly, Postnatal growth retardation, Inappropria...	ORPHA:363958
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Redu...	ORPHA:33364
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the corpus ...	ORPHA:457284
Bone Marrow Failure Syndrome 3	Hyperactivity, Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of ...	OMIM:617052
Herpes Simplex Virus Encephalitis	Addictive alcohol use	ORPHA:1930
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Disproportionate tall stature, Sparse body hair	ORPHA:3068
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Porphyria Cutanea Tarda	Addictive alcohol use, Hirsutism, Hypertrichosis	ORPHA:101330
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Agenesis of corpus callosum	ORPHA:556955
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair	OMIM:619745
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus callo...	OMIM:618500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Hypoplasia o...	OMIM:214110
Perlman Syndrome	Agenesis of corpus callosum, Large for gestational age	OMIM:267000
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Dysphagia	ORPHA:99880
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Mucopolysaccharidosis, Type Vii	Splenomegaly, Hepatomegaly, Corneal opacity	OMIM:253220
Hurler Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:93473
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Bohring-Opitz Syndrome	Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Severe failure to thrive, Age...	ORPHA:97297
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Postnatal growth retardation, Hypoplasia of the pons, Partial agene...	OMIM:620305
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Attention deficit hyperactivity di...	ORPHA:2461
Apert Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Failure to thrive	OMIM:602522
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:579
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjunctival i...	ORPHA:53035
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive	ORPHA:411634
Thakker-Donnai Syndrome	Agenesis of corpus callosum	ORPHA:1780
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow, Decreased body weight	OMIM:613075
Marshall-Smith Syndrome	Failure to thrive, Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria...	OMIM:602535
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Postnatal growth retardation, Hypoplasia of the corpus call...	OMIM:206900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Microcephaly, Hypoplasia of the corpus callosum, Failure to thrive,...	OMIM:619418
Alobar Holoprosencephaly	Microcephaly, Inability to walk, Depression, Irritability, Attention deficit hyperactivity disord...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Inability to walk, Depression, Irritability, Attention deficit hyperactivity disord...	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Inability to walk, Depression, Irritability, Attention deficit hyperactivity disord...	ORPHA:93924
Semilobar Holoprosencephaly	Microcephaly, Inability to walk, Depression, Irritability, Attention deficit hyperactivity disord...	ORPHA:220386
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Aggressive behavior, Sparse medial eyebrow, Low ante...	OMIM:601358
48,Xxxy Syndrome	Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Tall s...	ORPHA:96263
Fg Syndrome Type 1	Broad-based gait, Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Compulsive b...	ORPHA:93932
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca...	OMIM:612651
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical...	OMIM:210710
Mucopolysaccharidosis Type 6	Splenomegaly, Opacification of the corneal stroma	ORPHA:583
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Gitelman Syndrome	Failure to thrive, Polydipsia, Salt craving, Hyperhidrosis	ORPHA:358
Adrenocortical Carcinoma	Hyperhidrosis, Hypertrichosis, Increased body weight, Weight loss	ORPHA:1501
Cardiofaciocutaneous Syndrome	Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Low p...	ORPHA:1340
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive	OMIM:302960
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Gabriele-De Vries Syndrome	Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal cerebral white matt...	ORPHA:506358
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Failure to thrive, Agenesis of corpus callosum, Cerebra...	OMIM:151050
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair	OMIM:257850
Mosaic Trisomy 9	Asplenia, Corneal opacity, Abnormal liver lobulation	ORPHA:99776
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fi...	OMIM:234100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Inability to walk, Overgrowth, Hypoplasia of the corpus cal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Inability to walk, Overgrowth, Hypoplasia of the corpus cal...	ORPHA:352665
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Prader-Willi Syndrome Due To Translocation	Microcephaly, Obesity, Head-banging, Lateral ventricle dilatation, Compulsive behaviors, Attentio...	ORPHA:177907
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ...	OMIM:268400
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Postnatal growth retardation, Partial agenesis of the...	OMIM:304050
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Arima Syndrome	Polydipsia	OMIM:243910
Down Syndrome	Sparse hair, Obesity	ORPHA:870
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsi...	ORPHA:581
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Oral-pharyngeal dysphagia, Synophrys, Attention deficit hyperactivity disorder, Sparse hair, Toen...	OMIM:300966
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis	ORPHA:560
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum	OMIM:123790
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	OMIM:309801
Rubinstein-Taybi Syndrome 1	Short attention span, Hyperactivity, Small for gestational age, Impulsivity, Microcephaly, Postna...	OMIM:180849
Apert Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly	OMIM:101200
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Failure to thrive, Thick hair	ORPHA:357074
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Small for gestational age, Fine hair, Sparse hair, Woolly hair, Failure...	OMIM:222470
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Aggressive behavior, Self-mutilation, Polyphagia, Obesity, Leukoencepha...	OMIM:607872
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callo...	ORPHA:508498
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Agenesis of corpus callosum	OMIM:618419
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Small for gestational age, Small nail, Nail dysplasia, Sparse hair, Failure to thrive, Breast hyp...	OMIM:614813
Niemann-Pick Disease Type C	Ataxia, Progressive neurologic deterioration, Aggressive behavior, Cerebral atrophy, Depression, ...	ORPHA:646
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:305450
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Acrocallosal Syndrome	Postnatal growth retardation, Failure to thrive, Agenesis of corpus callosum, Aplasia/Hypoplasia ...	OMIM:200990
Proximal Renal Tubular Acidosis	Polydipsia, Failure to thrive	ORPHA:47159
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Trichilemmoma, Nail d...	ORPHA:477
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Naxos Disease	Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum	ORPHA:268249
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use	ORPHA:36238
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, Dysmetria, Cerebellar hyp...	ORPHA:314647
1P36 Deletion Syndrome	Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Obesity, Self-injurious behavior, Gait ...	ORPHA:1606
Wolf-Hirschhorn Syndrome	Ataxia, Microcephaly, Disproportionate tall stature, Aplasia/Hypoplasia of the cerebellum, Failur...	ORPHA:280
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use	ORPHA:90065
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Attention deficit hypera...	ORPHA:221008
Meckel Syndrome	Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital hepatic fibro...	ORPHA:564
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Failure to thrive, Small for gestational age	OMIM:241200
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Truncal obesity	OMIM:616541
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Wilson Disease	Hepatomegaly, Hemolytic anemia, Thrombocytopenia, Atypical or prolonged hepatitis, Splenomegaly, ...	OMIM:277900
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos...	ORPHA:2072
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Failure to thrive	OMIM:615508
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Decreased body weight	OMIM:615349
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha...	ORPHA:2710
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Emotional lability, Depression, Abdominal obesity, Cognitive impairment, M...	ORPHA:189427
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Schimke Immunoosseous Dysplasia	Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor...	OMIM:242900
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu...	OMIM:311200
Jacobsen Syndrome	Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Attention deficit hyperactivity disorder	ORPHA:2308
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Mucopolysaccharidosis, Type Vi	Splenomegaly, Hepatomegaly, Corneal opacity	OMIM:253200
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Fryns Syndrome	Large for gestational age, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis...	OMIM:229850
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Holoprosencephaly 14	Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus callosum, Partial absence ...	OMIM:619895
Rothmund-Thomson Syndrome	Sparse eyelashes, Small for gestational age, Alopecia totalis, Sparse eyebrow, Small nail, Nail d...	ORPHA:2909
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Cardiomegaly, Megalocornea, Congenital aphakia	ORPHA:137675
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Lathosterolosis	Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo...	ORPHA:46059
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Agenesis of corpus callosum	ORPHA:168558
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Short nail, Fine hair	OMIM:614099
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Carpenter Syndrome 1	Microcornea, Polysplenia, Opacification of the corneal stroma	OMIM:201000
Arthrogryposis Multiplex Congenita 5	Akinesia, Microcephaly	OMIM:618947
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Agenesis of corpus callosum	ORPHA:289548
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Stuve-Wiedemann Syndrome 1	Sparse hair, Hyperhidrosis, Dysphagia	OMIM:601559
Incontinentia Pigmenti	Keratitis, Cataract, Corneal opacity, Eosinophilia	ORPHA:464
Wolf-Hirschhorn Syndrome	Small for gestational age, Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms...	OMIM:194190
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Large for gestational age, Fine hair, Hypoplastic nipples, Sparse hair, Vi...	OMIM:280000
Focal Dermal Hypoplasia	Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis	ORPHA:2092
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Ectodermal Dysplasia-Skin Fragility Syndrome	Hypohidrosis, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis	ORPHA:158668
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Dementia, Cerebellar hypopl...	ORPHA:2273
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Akinesia, Aggressive behavior, Weight loss, Choreoat...	ORPHA:3385
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepato...	OMIM:274000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly...	OMIM:620330
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Small for gestational age	OMIM:614114
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Hyperactivity, Failure to thrive, Dandy-Walker malformation, Microcepha...	OMIM:270400
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Microcephaly, Partial agenesis o...	OMIM:220111
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Inability to walk, Cerebral atrophy, Irritability, Hyperintensity of cerebral white...	ORPHA:1675
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Ataxia, Dandy-Walker malformation	ORPHA:2750
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Trisomy 8P	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Autosomal Recessive Polycystic Kidney Disease	Polydipsia	ORPHA:731
Cerebellar-Facial-Dental Syndrome	Sparse hair, Failure to thrive, Sparse eyebrow, Fine hair	ORPHA:444072
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia...	OMIM:181270
Lysinuric Protein Intolerance	Sparse hair, Truncal obesity, Failure to thrive, Fine hair	OMIM:222700
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Aggressive behavior, Self-inju...	OMIM:619841
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Failure to thrive	OMIM:300373
Holoprosencephaly 7	Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum...	OMIM:610828
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Attention deficit hyperactivity disorder	OMIM:619934
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Gaucher Disease	Hepatomegaly, Pancytopenia, Corneal opacity, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Thromboc...	ORPHA:355
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Corneal ulceration, Corneal opacity, Hepatic fibrosis	OMIM:615273
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasopharyn...	ORPHA:217085
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Left ventricular hyper...	ORPHA:324
Monosomy 22	Sparse hair, Synophrys, Hyperhidrosis	ORPHA:96123
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Cirrhotic Cardiomyopathy	Addictive alcohol use	ORPHA:57777
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasopharyn...	ORPHA:217093
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Ascites, Cataract, Corneal opacity	ORPHA:1052
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Failure to thrive	OMIM:613563
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Failure to thrive, Sparse eyebrow	OMIM:244450
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosu...	OMIM:249000
Lenz-Majewski Hyperostotic Dwarfism	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Sparse body hair, Breast hypoplasia	ORPHA:432
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Lathosterolosis	Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol...	OMIM:607330
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Simpson-Golabi-Behmel Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Tall stature	ORPHA:373
Yunis-Varon Syndrome	Postnatal growth retardation, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary mic...	ORPHA:3472
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Scalp-Ear-Nipple Syndrome	Sparse hair, Abnormal fingernail morphology, Breast aplasia, Hypohidrosis	ORPHA:2036
Cockayne Syndrome B	Anhidrosis, Dry hair, Small for gestational age, Abnormal hair morphology, Sparse hair, Severe fa...	OMIM:133540
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Degcags Syndrome	Small for gestational age, Oral-pharyngeal dysphagia, Microcephaly, Choking episodes, Failure to ...	OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse h...	ORPHA:221016
Mucopolysaccharidosis Type 2	Splenomegaly, Hepatomegaly, Enlarged tonsils, Corneal opacity	ORPHA:580
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Small for gestational age	OMIM:300661
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ...	ORPHA:2298
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Opacification of the c...	OMIM:214100
Holoprosencephaly 9	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Micr...	OMIM:610829
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Postnatal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Postnatal...	ORPHA:353277
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Anemia, Lentiglobus, Thrombocy...	ORPHA:534
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Coffin-Siris Syndrome 1	Microcephaly, Postnatal growth retardation, Aggressive behavior, Partial agenesis of the corpus c...	OMIM:135900
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Truncal ataxia, Dysphagia, Failure to thrive, Agenesis of corpus callo...	OMIM:264090
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Opacification of the corneal stroma	OMIM:253000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Abnormal repetitive mannerisms, Nail dysplasia	OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Failure to thrive, Agenesis of cerebellar vermis, Focal hypointensity of cerebr...	ORPHA:261537
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Moebius Syndrome	Corneal opacity	ORPHA:570
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Chime Syndrome	Sparse hair, Tall stature, Fine hair	ORPHA:3474
Mucolipidosis Ii Alpha/Beta	Brittle hair, Failure to thrive, Sparse hair, Sparse eyebrow	OMIM:252500
Mowat-Wilson Syndrome	Focal cortical dysplasia, Broad-based gait, Decreased body weight, Ataxia, Agenesis of cerebellar...	ORPHA:2152
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Ataxia, Confusion, Slender build, Cerebellar hypoplasia, Truncal ataxia, Polym...	ORPHA:3455
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619480
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Mend Syndrome	Hyperactivity, Aggressive behavior, Abnormal social behavior, Hypoplasia of the corpus callosum, ...	ORPHA:401973
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Small for gestational age, Dysphagia, Sparse hair, Failure to thrive	OMIM:606721
Neu-Laxova Syndrome 1	Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenesis of corpus c...	OMIM:256520
Cartilage-Hair Hypoplasia	Sparse hair, Failure to thrive, Sparse eyebrow	ORPHA:175
Myhre Syndrome	Small for gestational age, Obesity, Fine hair, Sparse hair, Thick eyebrow	OMIM:139210
Neurocardiofaciodigital Syndrome	Sparse hair, Failure to thrive, Small for gestational age, Sparse eyebrow	OMIM:619869
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, D...	OMIM:236680
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Cortical dysplas...	ORPHA:805
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Cockayne Syndrome A	Sparse hair, Anhidrosis, Dry hair, Failure to thrive	OMIM:216400
Primrose Syndrome	Restlessness, Sparse scalp hair, Absent facial hair, Aggressive behavior, Synophrys, Self-injurio...	OMIM:259050
Neurofibromatosis Type 1	Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i...	ORPHA:636
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Ethylene Glycol Poisoning	Addictive alcohol use	ORPHA:31826
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Overgrowth, Sparse hair, Failure to thrive, ...	OMIM:218040
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism, Failure to thrive, Obesity	OMIM:617157
Larsen Syndrome	Corneal opacity	OMIM:150250
Atypical Werner Syndrome	Abnormal hair quantity, Decreased body weight, Alopecia, Abnormal hair morphology, Abnormal hair ...	ORPHA:79474
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218600
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Failure to thrive, Sparse body hair, Sparse axillary hair	ORPHA:90796
Peters-Plus Syndrome	Microcephaly, Postnatal growth retardation, Cerebral atrophy, Decreased body weight, Agenesis of ...	OMIM:261540
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Increased body weight	ORPHA:79240
Proboscis Lateralis	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:141099
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Fraser Syndrome 1	Abnormal thymus morphology, Corneal opacity	OMIM:219000
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Microcepha...	OMIM:216340
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Small nail, Sparse hair	OMIM:620186
Cushing Disease	Sparse scalp hair, Increased body weight, Truncal obesity, Abdominal obesity, Hirsutism	ORPHA:96253
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Birth length greater than 97th percentile, Overgrowth, Agenesis of ...	OMIM:312870
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Cardiomegaly, Blue irides, Aplasia/Hypoplasia of the iris...	ORPHA:904
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Opacification of the corneal stroma	OMIM:251300
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Cataract, Iris coloboma, Sclerocornea	ORPHA:818
Focal Dermal Hypoplasia	Agenesis of corpus callosum, Microcephaly	OMIM:305600
Oculoectodermal Syndrome	Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma	OMIM:600268
Digeorge Syndrome	Sclerocornea, Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymu...	OMIM:188400
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Sparse body hair	ORPHA:548
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight	ORPHA:264580
Osteogenesis Imperfecta	Corneal opacity, Thrombocytopenia	ORPHA:666
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:613610
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow	OMIM:619127
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal obesi...	ORPHA:99889
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Hyperhidrosis, Hypohidrosis, Sparse hair, Alopecia of scalp, Fr...	OMIM:150230
Townes-Brocks Syndrome	Failure to thrive, Agenesis of corpus callosum	ORPHA:857
Roberts Syndrome	Sparse hair	ORPHA:3103
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium	ORPHA:910
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Biliary tract abnormality, Opacification of the corn...	OMIM:268300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye...	ORPHA:1662
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Wrinkly Skin Syndrome	Sparse hair, Failure to thrive, Short nail, Fragile nails	OMIM:278250
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Wrinkly Skin Syndrome	Sparse hair, Failure to thrive	ORPHA:2834
Hellp Syndrome	Increased body weight	ORPHA:244242
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Branchiooculofacial Syndrome	Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h...	OMIM:113620
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ...	OMIM:601803
Carney Complex	Tall stature, Increased body weight, Abdominal obesity, Ductal carcinoma in situ, Hirsutism	ORPHA:1359
Craniofacial Microsomia 1	Agenesis of corpus callosum	OMIM:164210
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Difficulty walking	OMIM:620111

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 Itpr3

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 Itpr3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Macronutrient selection by seven inbred mouse strains and three taste-related knockout strains.	Physiology & behavior (June 2014)	Itpr3^{tm1(NCOM)Mfgc}	PMC4116466
Taste dysfunction in BTBR mice due to a mutation of Itpr3, the inositol triphosphate receptor 3 gene.	Physiological genomics (July 2013)	Itpr3^{tm1(NCOM)Mfgc}	PMC3783815

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MGI Allele	Allele Type	Produced
Itpr3^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Itpr3^em1(IMPC)Mbp	Exon Deletion	Mice

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: Itpr3 MGI:96624

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Itpr3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data