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Gene: Lyst MGI:107448

Gene Summary

Name:

lysosomal trafficking regulator

Synonyms:

D13Sfk13

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat/hair pigmentation	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-24
abnormal retina morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.69×10^-14
decreased prepulse inhibition	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.29×10^-05
decreased locomotor activity	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.34×10^-07
increased mean corpuscular volume	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.41×10^-05
increased fasting circulating glucose level	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.13×10^-05
increased grip strength	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.24×10^-05
preweaning lethality, incomplete penetrance	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal iris morphology	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.35×10^-17
increased mean corpuscular hemoglobin	Lyst^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.89×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

11 Images

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Combined SHIRPA and Dysmorphology

Images

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Histopathology

Images

2 Images

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Human diseases caused by Lyst 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 Lyst (3 diseases)
Human diseases predicted to be associated with Lyst (1954 diseases)

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

Disease	Matching phenotypes	Source
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Attenuated Chédiak-Higashi Syndrome	Incoordination, Epistaxis, Ocular albinism, Hypertonia, Abnormality of extrapyramidal motor funct...	ORPHA:352723

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

Disease	Matching phenotypes	Source
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Dyschromatosis Universalis Hereditaria 3	Hypermelanotic macule	OMIM:615402
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Book Syndrome	Premature graying of hair	OMIM:112300
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, R...	OMIM:607624
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Hearing impairment	OMIM:300719
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections	OMIM:614493
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ...	OMIM:617018
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Candidiasis, Familial, 1	Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hearing impairme...	ORPHA:2815
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse ha...	OMIM:275400
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp...	ORPHA:320370
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf...	OMIM:605258
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Griscelli Syndrome Type 1	Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation	ORPHA:79476
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormal retinal morphology,...	ORPHA:170
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
3-Methylglutaconic Aciduria Type 4	Cataract, Hearing impairment, Dysgenesis of the cerebellar vermis, Spasticity, Thrombocytopenia, ...	ORPHA:67048
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent bacterial meningitis, Reduced natural killer cell activity, Recurrent pneumo...	OMIM:300400
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Paraparesis, Impaired distal proprioception	ORPHA:231445
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Hypopigmentation of the skin, Decreased circulating total IgM	OMIM:610798
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment	ORPHA:2222
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban...	ORPHA:363710
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory...	OMIM:302800
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a...	OMIM:615157
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Usher Syndrome Type 1	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypof...	ORPHA:231169
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Usher Syndrome Type 3	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Ves...	ORPHA:231183
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation	ORPHA:2253
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Vertigo, Abnormal vestibulo-ocular reflex, Slurred sp...	OMIM:183086
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Sensorineural ...	OMIM:155100
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spastic Paraparesis And Deafness	Tremor, Cataract, Hearing impairment, Spastic paraparesis	OMIM:312910
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in...	OMIM:606843
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Aspergillosis	Sinusitis, Diffuse reticular or finely nodular infiltrations, Cough, Neutropenia, Infectious ence...	ORPHA:1163
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM...	OMIM:608106
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in...	OMIM:613500
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine...	OMIM:248900
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Free Sialic Acid Storage Disease	Ataxia, Splenomegaly, Abnormal pyramidal sign, Abnormality of skin pigmentation, Athetosis, Gait ...	ORPHA:834
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Sensor...	ORPHA:182050
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Macular dystrophy, Retino...	ORPHA:1897
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Pr...	ORPHA:504476
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Silver-gray hair, White hair, Hypopigmented ski...	ORPHA:381
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Myelodysplasia, Dyspnea, Usual interstitial pneumonia, P...	OMIM:614742
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Abnormality of neutrophils, Hearing impairment, White hair, Ocular albinism, Hy...	ORPHA:2720
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Friedreich Ataxia	Hearing impairment, Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria,...	ORPHA:95
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal...	OMIM:607483
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair	ORPHA:1264
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc...	OMIM:273800
Immunodeficiency 51	Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe...	OMIM:613953
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D...	ORPHA:401820
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Hepatom...	OMIM:615559
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Dystonia 23	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Abnorma...	OMIM:613101
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albinism, Impaired ADP-induce...	OMIM:614074
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec...	OMIM:242700
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ...	OMIM:616371
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Developmental glaucoma, Spastic paraplegia, Developmental cataract	ORPHA:101005
Urocanic Aciduria	Broad-based gait, Ataxia, Recurrent infections, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to...	OMIM:613502
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal vestibular function, Cataract, Ataxia, Sensorineura...	ORPHA:886
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides, Cataract	OMIM:261600
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism	OMIM:300650
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra...	OMIM:619172
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert...	OMIM:613672
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula...	OMIM:619281
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired rist...	OMIM:231200
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip...	OMIM:613647
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ...	ORPHA:3240
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign...	OMIM:614575
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Retinal degeneration	ORPHA:3363
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Reticular hyperpigmentation, Decreased circulating antibody level, ...	OMIM:619767
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Immunodeficiency 81	Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections...	OMIM:619374
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Choreoathetosis, Leukopenia, Tetrapares...	ORPHA:27
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Hypersensitivity pneumonitis, Atelectasis,...	ORPHA:2902
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Xeroderma Pigmentosum, Complementation Group G	Cataract, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Spasticity	OMIM:278780
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Fingernail dysplasia, Ectopia lentis	ORPHA:1259
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental extraction, Albinism, Ocular ...	OMIM:614076
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections...	OMIM:300636
Riboflavin Transporter Deficiency	Ataxia, Tremor, Progressive hearing impairment, Myoclonus, Iris hypopigmentation	ORPHA:97229
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough	ORPHA:60026
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Lower limb spasticity, Cataract, Ataxia, Clonus, Rigidity, Dysesthesia, Babin...	OMIM:614877
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa...	OMIM:614075
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ...	OMIM:213200
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Crypt...	OMIM:613990
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Ciliary Dyskinesia, Primary, 33	Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines...	OMIM:616726
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to...	OMIM:612692
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb hypertonia, Myo...	ORPHA:254343
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio...	OMIM:610978
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Premature graying of hair, Pulmonary fibrosis, Leukemia, Bone marr...	OMIM:614743
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom...	ORPHA:1390
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Ground-glass opacification, Dysp...	ORPHA:90060
Optic Atrophy 3, Autosomal Dominant	Tremor, Cataract, Abnormality of extrapyramidal motor function, Hearing impairment	OMIM:165300
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An...	ORPHA:521406
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp...	OMIM:619510
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Sensorineural hearing impairment, Iris cyst	OMIM:620086
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Heimler Syndrome 1	Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy	OMIM:234580
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair...	OMIM:300455
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature grayi...	OMIM:613989
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Dyspnea, Reticular hype...	OMIM:127550
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma	ORPHA:35737
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Ataxia, Corneal opacity, Cryptorchidism, Sensorineural hearin...	ORPHA:2719
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Increased circulating IgA level, Pleural thickening, Asthma, Increased circulati...	OMIM:619632
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Pulmonary...	OMIM:178550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo...	OMIM:600363
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Impaired distal vibration sensation, ...	OMIM:616680
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R...	OMIM:620321
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait	OMIM:618387
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,...	OMIM:617145
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc...	ORPHA:98813
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti...	OMIM:240500
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i...	ORPHA:2111
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Neutropenia, Hepatomegaly, He...	OMIM:608233
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Cryptorchidism, Premature graying of hair, Anemia, Squamous cell carcinoma of the...	OMIM:620365
Autosomal Recessive Spastic Paraplegia Type 70	Nephrotic syndrome, Abnormal pulmonary interstitial morphology, Hand tremor	ORPHA:401835
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibul...	OMIM:617284
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga...	OMIM:616127
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Developmental And Epileptic Encephalopathy 82	Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia, Recurrent infections, Spast...	OMIM:618721
Usher Syndrome Type 2	Cataract, Ataxia, Sensorineural hearing impairment, Abnormality of the inner ear, Aplasia/Hypopla...	ORPHA:231178
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections	OMIM:146830
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre...	OMIM:618913
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Gliosis, Pulmonary fibrosis, Micropenis, Macrotia, Decreased testicular size, Cerebellar ...	ORPHA:457240
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Sensorineural hearing impairment, Developmental cataract, Hypertonia, Adult onset...	ORPHA:1368
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Whim Syndrome 1	Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac...	OMIM:193670
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati...	ORPHA:444099
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the skin, Thrombo...	OMIM:614171
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Unsteady gait, Blue irides, Dysmetria, Hand tremor, Protruding ear, Abnormal antihelix morphology...	ORPHA:3041
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Low posterior hairline, Generalized hirsutism, Hirsutism	ORPHA:1895
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect...	ORPHA:79128
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ...	OMIM:618093
Tonne-Kalscheuer Syndrome	Broad-based gait, Tremor, Cryptorchidism, Blue irides, Spasticity, Decreased testicular size	OMIM:300978
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Vertigo, Sensorin...	ORPHA:3226
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Cataract, Babinski sign,...	OMIM:614409
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Spastic paraplegia, Babinsk...	ORPHA:100988
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ...	ORPHA:453521
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Recurrent respiratory infections, Myositis, Skin rash, Increased c...	OMIM:615934
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi...	OMIM:314050
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Pulmona...	OMIM:615704
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Netherton Syndrome	Recurrent respiratory infections, Asthma, Increased circulating IgE level, Decreased circulating ...	ORPHA:634
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic pa...	OMIM:615643
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S...	OMIM:614487
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis...	OMIM:611926
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect...	ORPHA:210136
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Blue irides	OMIM:615516
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia...	OMIM:616719
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula...	OMIM:614077
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a...	OMIM:618165
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ...	OMIM:117360
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Generalized hirsutism	ORPHA:3019
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia-Monocytopenia-Deafness Syndrome	Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Abnormal hair m...	ORPHA:2314
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Immunodeficiency, Common Variable, 1	Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat...	OMIM:607594
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu...	ORPHA:313772
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Impaired vibration sen...	OMIM:159550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Abnormal lymphocyte count, Thromboc...	ORPHA:79124
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Low po...	ORPHA:85194
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Primary Ciliary Dyskinesia	Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Res...	ORPHA:244
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia	OMIM:617836
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse scalp hair, Sparse eyebrow, Recurrent infections, Abnormality of skin pigmentation, Nail d...	OMIM:225050
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Pul...	ORPHA:1839
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Microcoria, Pa...	OMIM:203450
Wyburn-Mason Syndrome	Cerebral palsy, Iris hypopigmentation, Epistaxis, Cerebral hemorrhage, Subarachnoid hemorrhage, H...	ORPHA:53719
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Arachnoid Cyst	Subarachnoid hemorrhage, Paraparesis, Abnormal cerebellum morphology, Vertigo, Slurred speech, In...	ORPHA:2356
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis	OMIM:176100
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp...	OMIM:300100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Dyskeratosis Congenita, X-Linked	Ridged nail, Oropharyngeal squamous cell carcinoma, Reticulated skin pigmentation, Pterygium of n...	OMIM:305000
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege...	ORPHA:816
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo...	OMIM:619644
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi...	OMIM:187900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus	ORPHA:3319
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance, Hypopigmen...	ORPHA:98794
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,...	ORPHA:411511
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Absent platelet dense granules, Ocular albinism, Albinism	OMIM:614073
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he...	OMIM:277480
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Alopecia, Splenomeg...	ORPHA:809
Obesity And Hypopigmentation	Red hair	OMIM:620195
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Pulmonary arterial hypertension, Hypopigmented skin patches, Pu...	ORPHA:220402
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Angelman Syndrome	Broad-based gait, Ataxia, Blue irides, Limb tremor, Clumsiness, Progressive gait ataxia, Fair hai...	OMIM:105830
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Rift Valley Fever	Abnormal bleeding, Paralysis, Hematemesis, Paraparesis, Thrombocytopenia, Vertigo, Retinal hemorr...	ORPHA:319251
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Braddock Syndrome	Neonatal respiratory distress, Posteriorly rotated ears, Unilateral renal agenesis, Abnormal hair...	ORPHA:52047
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:1466
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Intention tremor	OMIM:614307
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Neutropenia, Nep...	OMIM:617303
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Emphysema, Recurrent bacterial infections, Restrictive ventilatory defect, Cough, Pleura...	ORPHA:36412
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic...	OMIM:275900
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Specific Granule Deficiency 2	Abnormal pinna morphology, Posteriorly rotated ears, Recurrent pneumonia, Sepsis, Recurrent bacte...	OMIM:617475
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Ataxia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Tetra...	OMIM:603553
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su...	OMIM:601399
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Recurrent respiratory infections, Tremor, Degeneration of anterior horn cells, Tongue fasciculati...	OMIM:159950
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia	OMIM:616042
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Air crescent sign, Neutrop...	ORPHA:228119
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Deafness, Congenital, With Vitiligo And Achalasia	Hearing impairment, Vitiligo	OMIM:221350
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Arterial Dissection-Lentiginosis Syndrome	Melanocytic nevus	ORPHA:1682
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc...	OMIM:616414
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Abnormal bleeding, Cataract, Ataxia, Dystonia, Tremor, Opisthotonus, Choreoat...	OMIM:616271
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Leukocytosis, Dyspnea, Asthma, B...	OMIM:620233
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Conductive hearing i...	OMIM:244400
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Increased ci...	OMIM:243700
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Waardenburg Syndrome Type 3	Atelectasis, White hair, Tracheomalacia, Thick eyebrow, Hearing impairment	ORPHA:896
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu...	ORPHA:276
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen...	OMIM:616050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity	OMIM:609260
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:183090
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Epistaxis, Albinism...	OMIM:203300
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen...	OMIM:608971
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Cataract, Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculati...	ORPHA:544469
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti...	OMIM:618278
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ...	OMIM:615518
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Abnormal central motor function, Ataxia, Cerebral palsy, Recurr...	ORPHA:760
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased circulating antibody level, Absent specific antibod...	OMIM:619846
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H...	OMIM:617435
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A...	ORPHA:1791
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple...	OMIM:238970
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Usher Syndrome, Type Ie	Congenital sensorineural hearing impairment, Vestibular areflexia	OMIM:602097
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st...	ORPHA:900
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti...	ORPHA:81
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Waddling...	ORPHA:2590
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic...	ORPHA:90646
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In...	OMIM:308230
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes...	OMIM:224230
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Renal insufficiency, Partial albinism, Epistaxis, Dyspnea, Ocular albin...	ORPHA:79430
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia...	ORPHA:209905
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu...	ORPHA:289560
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Sarcoidosis, Susceptibility To, 1	Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepatomegaly, Bronchiectasis, Pul...	OMIM:181000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Lethargy	ORPHA:2169
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Inability to walk, Tremor	OMIM:616269
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Noonan Syndrome 4	Abnormal bleeding, Posteriorly rotated ears, Cryptorchidism, Blue irides, Low-set ears, Thickened...	OMIM:610733
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
4H Leukodystrophy	Cerebellar atrophy, Cataract, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokine...	ORPHA:289494
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Subcapsular cataract, Rod-cone dystrophy	OMIM:268020
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Microlissencephaly	Cerebellar atrophy, Pneumonia	ORPHA:1083
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Decreased circulating antibody level...	ORPHA:1572
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Abnormal bleeding, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ...	ORPHA:86841
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom...	OMIM:208920
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections	ORPHA:169079
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology	ORPHA:1617
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Polymyositis	Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Abnormal pulmonary interstitial mor...	ORPHA:732
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Legius Syndrome	Inguinal freckling, Posteriorly rotated ears, Axillary freckling, Low posterior hairline, Low-set...	OMIM:611431
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Farber Disease	Corneal opacity, Paraparesis, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morpholo...	ORPHA:333
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia of inadequate ...	ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adult Krabbe Disease	Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal medulla oblongata morphology, Pro...	ORPHA:206448
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic par...	OMIM:300894
Ataxia-Telangiectasia	Abnormality of chromosome stability, Hypopigmentation of hair, Ataxia, Tremor, Decreased circulat...	ORPHA:100
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Systemic Sclerosis	Alopecia, Barrett esophagus, Abnormality of the kidney, Pulmonary fibrosis, Acute kidney injury, ...	ORPHA:90291
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody l...	ORPHA:397596
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetrapl...	OMIM:616586
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Leukodystrophy, Hypomyelinating, 2	Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spastici...	OMIM:608804
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal...	ORPHA:538
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Astigmatism, Cerebellar hypoplasia	OMIM:619556
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax...	ORPHA:276198
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat...	ORPHA:542310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia...	OMIM:620358
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect	OMIM:617306
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Spl...	OMIM:612852
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Attenuated Chédiak-Higashi Syndrome	Incoordination, Epistaxis, Ocular albinism, Hypertonia, Abnormality of extrapyramidal motor funct...	ORPHA:352723
Spinal Arteriovenous Metameric Syndrome	Cutaneous angiolipomas, Visceral angiomatosis, Paraparesis	ORPHA:53721
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Hypersegmentation of neutro...	OMIM:615578
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Hearing impairment, Abnormal pupil morphology	ORPHA:101082
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, Ataxia, White eyebrow, Cryptor...	OMIM:609136
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Angelman Syndrome	Keratoconus, Broad-based gait, Ataxia, Tremor, Inability to walk, Astigmatism, Myoclonus, Fair ha...	ORPHA:72
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:610738
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet...	OMIM:616860
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia	OMIM:300983
Familial Hemophagocytic Lymphohistiocytosis	Petechiae, Reduced natural killer cell activity, Splenomegaly, Sensorineural hearing impairment, ...	ORPHA:540
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Renal insufficiency, Maculopapular exanthema, Skin rash, Cr...	ORPHA:319213
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal...	ORPHA:2969
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap...	ORPHA:363722
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Abnormal cerebellar peduncle mor...	ORPHA:909
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,...	ORPHA:1303
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abnormal cerebellum morphology, Dyspnea, ...	ORPHA:35687
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,...	ORPHA:73263
Primary Sjögren Syndrome	Normocytic anemia, Abnormal pulmonary thoracic imaging finding, Myositis, Chronic active hepatiti...	ORPHA:289390
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular ...	ORPHA:261250
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula...	ORPHA:90117
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Tremor, Fine hair, Premature graying of hair, Anemia, Pulmonary fibrosis, Nail dysplasia, Dystoni...	OMIM:612199
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, In...	ORPHA:206594
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ...	ORPHA:228360
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ...	OMIM:607694
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatitis, Decreased pro...	OMIM:606367
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Sialidosis Type 2	Ataxia, Corneal opacity, Tremor, Splenomegaly, Hearing impairment	ORPHA:87876
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Atelectas...	OMIM:300219
Coasy Protein-Associated Neurodegeneration	Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis	ORPHA:397725
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Distal Deletion 3P	Low-set, posteriorly rotated ears, Cryptorchidism, Spasticity, Abnormal vestibulo-ocular reflex, ...	ORPHA:1620
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Recurrent otitis media, Reduction of neutro...	OMIM:266265
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Hypersplenism, Thrombocytop...	OMIM:230800
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Prolonged bleeding time, Cryptorchidism, Abnormal helix morpho...	ORPHA:638
Interstitial Lung And Liver Disease	Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial m...	OMIM:615486
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A...	ORPHA:290
Noonan Syndrome 13	Highly arched eyebrow, Blue irides, Low posterior hairline, Multiple lentigines, Cafe-au-lait spo...	OMIM:619087
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Spastic tetraparesis	OMIM:619470
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impai...	OMIM:222300
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ...	OMIM:616505
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:858
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b...	ORPHA:2688
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Low ...	ORPHA:124
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Sterile pyur...	ORPHA:449395
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Ataxia, Leukocoria, Fine, reticulate skin p...	OMIM:268130
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Lis...	OMIM:162210
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif...	OMIM:619611
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thym...	OMIM:214110
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Pulmonary cyst, Enlarged kidney	OMIM:618272
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia	OMIM:231000
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Myelodysplas...	ORPHA:3260
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma	ORPHA:141152
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Tularemia	Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu...	ORPHA:3392
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, Atelectasis, Vertigo, Hepat...	ORPHA:728
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Partial agenesis of the corpus callosum, Agenesis of corpus callos...	ORPHA:85179
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal...	OMIM:300623
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Sarcoidosis	Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Uveitis, Neph...	ORPHA:797
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respiratory in...	OMIM:607625
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Cafe-au-lait spot, ...	OMIM:615234
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morph...	ORPHA:221
Classic Galactosemia	Speech apraxia, Decreased serum insulin-like growth factor 1, Incoordination, Ataxia, Postural tr...	ORPHA:79239
Charcot-Marie-Tooth Disease Type 1E	Impaired temperature sensation, Inability to walk, Abnormal pupil morphology, Sensorineural heari...	ORPHA:90658
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam...	OMIM:601495
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Dyspnea, Oliguria, Pulmonary infiltrates, Arthritis, Pulmonary fibrosis, Pul...	ORPHA:220393
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hypertrichosis	OMIM:256000
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Hepatosplenome...	ORPHA:505248
Familial Dysautonomia	Corneal opacity, Ataxia, Impaired pain sensation, Abnormal pupil morphology, Corneal erosion, Gai...	ORPHA:1764
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
46,Xx Gonadal Dysgenesis	Sparse pubic hair, Pulmonary fibrosis, Abnormality of secondary sexual hair, Hearing impairment	ORPHA:243
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Cataract, Babinski sign, Hof...	OMIM:601162
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmentation of hair, Ataxia, Splenomegaly, Sensorineural hearing impairment, Abnormal pyrami...	ORPHA:163746
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Hearin...	ORPHA:168569
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Nocardiosis	Respiratory distress, Brain abscess, Pneumonia, Productive cough, Nonproductive cough, Severe inf...	ORPHA:31204
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Hirsutism	ORPHA:228346
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ...	OMIM:500013
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Decreased circulating antibody level, Recurrent bacterial infections,...	ORPHA:331206
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Bloom Syndrome	Bronchitis, Paronychia, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circul...	ORPHA:125
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Hypoplasia of the iris, Cerebellar h...	OMIM:206700
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Recurrent upper respiratory tract infections, Babinski sign...	ORPHA:225147
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Numerous pigmented freck...	OMIM:278760
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Aplasia/H...	ORPHA:1192
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Decreased cir...	ORPHA:859
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia	OMIM:618970
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract	ORPHA:3085
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con...	OMIM:609033
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Hepatomegaly, Dystonia, Apnea, Albinism, Splenomegaly, Ocular a...	OMIM:617050
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold	OMIM:108145
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythro...	ORPHA:169160
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Progressive spastic paraparesis, Cerebellar vermis atro...	ORPHA:329308
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Tremor, Splenomegaly, Osteoarthritis, Abn...	ORPHA:355
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Anterior Segment Dysgenesis 3	Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld...	OMIM:601631
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist...	ORPHA:101076
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Cataract, Brushfield spots, Splenomegaly, Cryptorchidism, Sensorineural heari...	OMIM:614866
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c...	OMIM:613179
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Inability to walk, Paraparesis, Gait disturbance, Abnormality of extrapyram...	ORPHA:2822
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Coarse hair, Thick...	ORPHA:585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethargy	OMIM:611590
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Sensorineural hearing impairment	OMIM:619693
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R...	ORPHA:221139
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Exfoliation Syndrome	Cataract, Rigidity, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Pseudoexfoliation, ...	OMIM:177650
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Cryptorchidism, S...	ORPHA:912
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Cataract, Clonus, Olivopontocereb...	ORPHA:370959
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin	ORPHA:75563
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t...	OMIM:312080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Oculodentodigital Dysplasia	Cataract, Ataxia, Abnormal pinna morphology, Paraparesis, Uveitis, Microcornea, Tetraparesis, Con...	OMIM:164200
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphol...	ORPHA:99745
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Posteriorly rotated ears, Brushfield spots, Cryptorchidism, Sensorineural hearing impai...	OMIM:214100
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Meier-Gorlin Syndrome 4	Cryptorchidism, Emphysema	OMIM:613804
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Protruding ear, Aminoaciduria, Periodontitis, Chronic otiti...	ORPHA:534
Superficial Siderosis	Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Anisocoria, Progressive gait ...	ORPHA:247245
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Non-...	ORPHA:227990
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Increased circulating IgE level, Chronic...	OMIM:147060
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Hyperphenylalaninemia, Bh4-Deficient, B	Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Acral Peeling Skin Syndrome	Hyperpigmentation of the skin	ORPHA:263534
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec...	OMIM:616005
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Sialidosis Type 1	Cataract, Ataxia, Corneal opacity, Tremor, Splenomegaly, Sensorineural hearing impairment, Slurre...	ORPHA:812
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,...	ORPHA:139417
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent...	OMIM:615468
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pu...	ORPHA:77259
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Recurrent...	ORPHA:183675
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an...	ORPHA:33355
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color, Astigmatism	ORPHA:1824
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Abnormal...	ORPHA:447753
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Congenital Fibrinogen Deficiency	Decreased testicular size, Abnormal bleeding, Splenic rupture, Developmental cataract, Opisthoton...	ORPHA:335
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Non-...	ORPHA:227982
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Sneddon Syndrome	Cerebral hemorrhage, Tremor, Decreased circulating total IgM, Impaired distal tactile sensation, ...	OMIM:182410
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ...	ORPHA:765
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Frequent falls	OMIM:160565
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas...	OMIM:612444
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Ataxia-Telangiectasia	Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus...	OMIM:208900
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma, Astigmatism, Corneal dystrophy	OMIM:253250
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab...	ORPHA:140936
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia	ORPHA:90308
Q Fever	Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Hepatomegaly, Maculopapular ...	ORPHA:781
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Cryptorchidism, Low-set ears, Iris h...	ORPHA:284160
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia...	ORPHA:52368
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Posteriorly rotated ears, Abnormal pinna morphology, Hamartoma of tongue, Splenomeg...	OMIM:269860
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Respiratory insufficiency, Horseshoe...	OMIM:608022
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Nail-Patella Syndrome	Impaired pain sensation, Impaired temperature sensation, Abnormal iris pigmentation, Antecubital ...	ORPHA:2614
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, N...	ORPHA:85443
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocere...	OMIM:146500
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Hyperhidrosis	ORPHA:79264
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling, Cataract	OMIM:614105
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Recurrent viral infections, Recurrent bacterial infections, Incr...	OMIM:618048
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T...	ORPHA:36238
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr...	OMIM:606002
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston...	OMIM:617710
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi...	ORPHA:39041
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Restrictive ve...	OMIM:619013
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation, Hearing impairment	ORPHA:457260
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocytosis, Clumsiness, Choreoathetosis, Abnormal...	OMIM:615673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Low anterior hairline, White...	ORPHA:742
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Cataract, Tremor, Inability to walk, Cerebellar vermis...	OMIM:617988
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy...	OMIM:169400
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Neuroferritinopathy	Resting tremor, Abnormal dentate nucleus morphology, Parkinsonism, Writer's cramp, Involuntary mo...	ORPHA:157846
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Astrocytosis, Pulmonary arteri...	ORPHA:258
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Impaired pain sensation, Inability to walk, Sensorineural hearing impairment,...	ORPHA:99949
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Highly arched eyebrow	OMIM:608629
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat...	OMIM:619574
Kaposiform Lymphangiomatosis	Epistaxis, Splenomegaly, Abnormal lung morphology, Dyspnea, Enlarged kidney, Hepatosplenomegaly, ...	ORPHA:464329
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Ataxia, Corneal opacity, Generalized hyperpigmenta...	ORPHA:636
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor...	ORPHA:1493
Immunodeficiency 10	Recurrent bacterial infections, Nail dysplasia, Recurrent infections	OMIM:612783
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust...	ORPHA:29207
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp...	ORPHA:280229
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Parkinsoni...	ORPHA:48818
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Iridocyclitis, Keratoconjunctivitis, Pigmentary retinopathy, Perifoveal ring ...	OMIM:240300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent upper respiratory t...	OMIM:619752
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa...	ORPHA:363400
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy	ORPHA:79411
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Cerebellar hypoplasia, Aspiration ...	OMIM:618253
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi...	OMIM:613177
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Bone marrow hypocellularity, Recurrent opportunistic infections, N...	OMIM:613987
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait	ORPHA:3077
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Neonatal respiratory distress, Hepatomegaly, Apnea, Renal ...	OMIM:608836
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract, Spastic paraparesis	OMIM:619338
Sjogren-Larsson Syndrome	Spasticity, Astigmatism, Opacification of the corneal epithelium, Spastic paraparesis	OMIM:270200
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Cerebellar vermis hypoplasia, Cataract...	OMIM:242840
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s...	OMIM:105210
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Spastic paraparesis, Loss of ...	ORPHA:3208
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Pneumonia, Cryptorchidism, Thrombocytopenia, Conductive hearing im...	OMIM:603467
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephr...	ORPHA:330001
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis	ORPHA:496756
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Retinopathy, Nail dysplasia	ORPHA:773
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Gene...	ORPHA:2510
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio...	ORPHA:454836
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux...	ORPHA:567
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Abnormal fingernail morphology, Yell...	ORPHA:662
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o...	ORPHA:35078
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Ca...	ORPHA:300298
Meier-Gorlin Syndrome 6	Tracheobronchomalacia, Recurrent respiratory infections, Emphysema, Cryptorchidism	OMIM:616835
Sympathetic Ophthalmia	Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Familial Isolated Dilated Cardiomyopathy	Sensorineural hearing impairment, Abnormality of neutrophils	ORPHA:154
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Eosinophilia, Tremor, Increased circulating antibody level, Fascicul...	ORPHA:99965
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum...	OMIM:618056
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
De Barsy Syndrome	Recurrent sinopulmonary infections, Emphysema, Cryptorchidism	ORPHA:2962
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Generalized hirsutism	ORPHA:110
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Koolen-De Vries Syndrome	Cataract, Fair hair, Abnormality of hair texture, Iris hypopigmentation	OMIM:610443
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Barth Syndrome	Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Scheie Syndrome	Cerebral palsy, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Spastic paraparesis	ORPHA:93474
Prader-Willi Syndrome	Hypopigmentation of hair, Impaired pain sensation, Cryptorchidism, Hyperinsulinemia, Poor gross m...	OMIM:176270
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Tremor, Inability to walk, Developmental glaucoma, Sensorineural hearing impairment, Vo...	ORPHA:99956
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iris, A...	ORPHA:2479
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Alopecia, Dyspnea, Restrictive ventilatory defect, Arthritis, ...	ORPHA:93672
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Pulmonary...	OMIM:616433
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Mixed hearing impairment, Torticollis, Posteriorly rotated ...	ORPHA:536467
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Blue irides, Mela...	OMIM:101800
Meckel Syndrome, Type 8	Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev...	ORPHA:98754
Igg4-Related Pachymeningitis	Paraparesis, Somatic sensory dysfunction, Eosinophilia, Increased circulating IgG4 level	ORPHA:449427
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Multiple li...	OMIM:617675
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Cataract, Hearing impairment, Tremor, Cryptorch...	OMIM:620327
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, Enl...	OMIM:615415
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,...	OMIM:105650
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Optic disc coloboma, Low posterior hairline, Microcornea, Retinoschisis, H...	ORPHA:2995
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurrent upper respi...	OMIM:602450
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema	ORPHA:357074
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev...	ORPHA:98793
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Recurrent infections, Abnormality of skin pigmentation, Decreased cir...	OMIM:620040
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Werner Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Abnormal hair whorl, Premature ...	ORPHA:902
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Hyperkinetic movements, Gai...	OMIM:300957
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstitial morphology, Neoplasm	ORPHA:206569
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev...	ORPHA:177904
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,...	ORPHA:90349
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy	ORPHA:88628
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance...	ORPHA:220497
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Impaired temperature sensation, Cryptorchidism, Decreased inhibin B lev...	ORPHA:177901
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis	OMIM:602080
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Low-set...	OMIM:242860
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infe...	ORPHA:1304
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hepatomegaly, Hearing impairment, Cardiomegaly, Respiratory trac...	ORPHA:365
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Neuhauser Syndrome	Iridodonesis, Ataxia, Poor coordination, Cupped ear, Hypoplasia of the iris, Large fleshy ears, M...	OMIM:249310
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Low-set ears, Oculomotor apraxia,...	ORPHA:475
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal s...	OMIM:612582
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Rigidity, Splenomegaly, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dys...	ORPHA:309854
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti...	ORPHA:50815
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:3322
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Sensorineural hearing impairment, Abnormal granulocyte morphology, Difficulty walking, Sm...	ORPHA:98907
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Protruding ear, Abnormality of skin pigmentation, Fine hair, Spar...	ORPHA:1806
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis	OMIM:260570
Overlap Myositis	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Leukopenia, Arthritis, Rhe...	ORPHA:206572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Cerebellar atrophy, Waddling gait, Cataract, Ataxia, Dystonia, Tremor, Inability ...	OMIM:615356
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, ...	OMIM:188400
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ...	OMIM:245150
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoim...	ORPHA:1855
Abetalipoproteinemia	Impaired vibratory sensation, Reticulocytosis, Abnormality of retinal pigmentation, Abnormal blee...	ORPHA:14
Cinca Syndrome	Purpura, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Sen...	ORPHA:1451
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Ataxia, Tremor, Hematochezia, Pigmentary retinopathy	ORPHA:79095
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Chorioretinal atrophy, Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Thrombocytopenia, Splenomegaly, Tetraplegia, Leukopenia, Prolonged prothrombin time, Hype...	OMIM:267700
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary inter...	ORPHA:97287
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Sensorin...	ORPHA:2072
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly ...	OMIM:619539
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Proteinuria, Splenomegaly, Abnormal...	ORPHA:77261
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Developmental And Epileptic Encephalopathy 4	Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia	OMIM:612164
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn...	OMIM:208540
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Tachypnea, Abnormal pulmonary interstitial morphology, Respir...	OMIM:613658
Terminal Osseous Dysplasia	Abnormality of skin pigmentation, Low-set ears	OMIM:300244
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Lo...	OMIM:607426
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Nail-Patella Syndrome	Ridged nail, Keratoconus, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia...	OMIM:161200
Bloom Syndrome	Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Elevat...	OMIM:210900
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Splenomegaly,...	ORPHA:1454
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystroph...	ORPHA:2526
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Cataract, Ataxia, Hypermelanotic macu...	ORPHA:90321
Alg9-Cdg	Cerebellar atrophy, Hepatomegaly, Hypoplasia of the bladder, Torticollis, Low-set, posteriorly ro...	ORPHA:79328
Chromomycosis	Recurrent bacterial infections, Hypopigmented skin patches	ORPHA:182
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Cave...	OMIM:252500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Breast hypoplasia	ORPHA:2235
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Inability to walk, Abnormal pyramidal sign, Distal sensory impairment, Impaired tandem ga...	ORPHA:254930
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance...	ORPHA:220493
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Hearing impairment, Recurrent pneumonia, Chronic mucocutaneous...	OMIM:158310
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Cataract, Abnormal...	ORPHA:466768
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Leiomyosarcoma, Neoplasm, Hepatoblastoma, Vesicoureteral refl...	ORPHA:116
Icf Syndrome	Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils...	ORPHA:2268
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Pancytopenia, Mixed hearing impairment, Pneumonia, Oligosacchariduria, Hepato...	ORPHA:309288
Phace Syndrome	Cataract, Sclerocornea, Hemiplegia/hemiparesis, Lens coloboma, Cerebellar hypoplasia, Heterochrom...	ORPHA:42775
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor	ORPHA:713
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility, Hearing impairment	ORPHA:49042
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisop...	ORPHA:35858
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Pulmonary hypoplasia, Enlarged kidney	OMIM:314390
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Decreased platelet glycoprotein Ib	OMIM:603585
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Abnormal pinna morphology, Pulmonary hypoplasia, Extrapulmonary sequestrum, Polyspl...	OMIM:200995
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema	ORPHA:289
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Abnormality of the nail	ORPHA:621
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora...	ORPHA:731
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Neoplasm, Periodontitis, Spars...	ORPHA:1775
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit...	OMIM:265120
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Speech apraxia, Abnormal cerebellum morphology, Babinski sign, Slur...	ORPHA:101000
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sensorineural heari...	OMIM:620075
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Ataxia, Cryptorchidism, Low-set ears, Spastic paraparesis, Ocular anterior segmen...	ORPHA:369891
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Hearing impairment	OMIM:619057
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Myoclonus	ORPHA:1352
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Decreased testicular size, Hypoxemia	ORPHA:284979
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Dystonia, Corneal opacity, Cerebral hemorrhage, Babinski si...	OMIM:175780
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Meier-Gorlin Syndrome 1	Respiratory distress, Cryptorchidism, Emphysema	OMIM:224690
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Xeroderma Pigmentosum, Complementation Group B	Freckling, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Low-set ears, Hypertrichosis	OMIM:612379
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu...	OMIM:614748
Miller Fisher Syndrome	Ataxia, Anisocoria, Paresthesia, Tetraparesis, Mydriasis	ORPHA:98919
Oculodentodigital Dysplasia	Cataract, Ataxia, External ear malformation, Conductive hearing impairment, Abnormality of the ea...	ORPHA:2710
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Decreased circulating IgG level, Cerebellar vermis ...	OMIM:212065
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Tyrosinemia Type 2	Tremor, Ataxia, Corneal opacity	ORPHA:28378
Mannosidosis, Alpha B, Lysosomal	Sensorineural hearing impairment, Low anterior hairline, Decreased circulating antibody level, Re...	OMIM:248500
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi...	OMIM:232220
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Renal tubular acidosis, Organic aciduria, Aspiration pneumon...	ORPHA:431361
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Hypertrichosis	OMIM:309900
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ...	OMIM:234200
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Axenfeld anomaly, Hypertrichosis	OMIM:266270
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Squalene Synthase Deficiency	Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abnormality of neutrophils, Hear...	ORPHA:33226
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dys...	ORPHA:845
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Polycystic kidney dysplasia, Micropenis, Agenesis of corpus callosum, Renal ...	OMIM:613091
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Cataract, Ataxia, Sensorineural hearing impairment, Babinski ...	ORPHA:314404
Eales Disease	Anterior uveitis, Epistaxis, Iris neovascularization, Vitreous hemorrhage, Spastic paraparesis	ORPHA:40923
Classic Homocystinuria	Retinal detachment, Sparse scalp hair, Cataract, Abnormality of retinal pigmentation, Ectopia len...	ORPHA:394
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Recurrent pharyngitis, Leukocyto...	ORPHA:2331
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anem...	OMIM:254900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Im...	ORPHA:30
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Epistaxis, Enterocolitis, Gout, Ulcerative coliti...	ORPHA:79259
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Hypermelanotic macule, Pneumonia, Autoimmune thrombocytopenia, ...	OMIM:607944
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythrode...	ORPHA:139402
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Ataxia, Babinski sign, Anisocoria, Hyperpigmentation of the...	OMIM:231550
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Omenn Syndrome	Recurrent bacterial infections, Alopecia, Recurrent fungal infections, Recurrent viral infections	OMIM:603554
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Increased circulating free T3, Keratitis, Neutropenia in presence of anti-n...	ORPHA:525731
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Corneal opacity, Tremor, Splenomegaly, Unsteady gait, Hepatosplenom...	ORPHA:354
Fabry Disease	Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency	ORPHA:324
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Prolonged prothromb...	ORPHA:91547
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Alopecia, Abnormal pupil morphology, I...	ORPHA:3163
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Low-set ears, Aplasia/Hypoplasia of the cerebellum, Hy...	OMIM:612651
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Chand Syndrome	Atelectasis, Hydroureter, Curly hair, Nail dysplasia	ORPHA:1401
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Foix-Alajouanine Syndrome	Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth...	ORPHA:79093
Sézary Syndrome	Abnormal immunoglobulin level, Tremor, Splenomegaly, Irregular hyperpigmentation, Abnormal lympho...	ORPHA:3162
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Alopecia, Subcapsular cataract	OMIM:203800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Axenfeld-Rieger Syndrome, Type 3	Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia p...	OMIM:602482
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Low-set ears	ORPHA:2180
Down Syndrome	Brushfield spots, Microtia, Myeloproliferative disorder, Conductive hearing impairment, Acute meg...	OMIM:190685
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Hyperpigmentation of the skin	ORPHA:2176
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow	ORPHA:75496
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Ogden Syndrome	Apnea, Cardiomegaly, Protruding ear, Iron deficiency anemia, Aspiration, Polycythemia, Global glo...	OMIM:300855
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hyperconvex fingernails, Hypoplasti...	ORPHA:192
Macs Syndrome	Cryptorchidism, Prolonged bleeding time, Bruising susceptibility	OMIM:613075
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Protei...	ORPHA:1018
Japanese Encephalitis	Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Paralysis, Tremor, Paucit...	ORPHA:79139
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Prolonged bleeding time, Bruising susceptibility, Hearing impairment	OMIM:616229
Hec Syndrome	Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract	ORPHA:2119
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Immunodeficiency 21	Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614172
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, E...	ORPHA:2298
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sideroblastic anemia	OMIM:530000
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Subependymal nodu...	ORPHA:25
Autosomal Dominant Cutis Laxa	Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	ORPHA:90348
Trichinellosis	Vertigo, Babinski sign, Increased circulating IgE level, Retinal hemorrhage, Hemiparesis, Anisoco...	ORPHA:863
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Hypermelanotic macule, ...	ORPHA:379
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplen...	OMIM:306955
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Cog8-Cdg	Cerebellar atrophy, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Myoclonus	ORPHA:95428
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t...	OMIM:263700
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveitis, Choroidal neovas...	ORPHA:91500
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog...	ORPHA:297
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Abnormal lung lobation, Renal cyst, Hepatoblastoma, Posterior helix...	OMIM:312870
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Secretory IgA deficiency, Recurrent infections, Respiratory failure, Em...	ORPHA:500150
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Alternating Hemiplegia Of Childhood	Ataxia, Mydriasis, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreo...	ORPHA:2131
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Cryptorchidism, Hypertonia, Cataract	OMIM:608093
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Mydriasis	ORPHA:43116
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Meacham Syndrome	Accessory spleen, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardiac total anom...	OMIM:608978
Immunodeficiency 47	Sensorineural hearing impairment, Decreased circulating antibody level, Recurrent infections, Rec...	OMIM:300972
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Skin rash, Pustule, Splenomegaly, Myocarditis, Abnormal pulmonary interst...	ORPHA:50918
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Pu...	ORPHA:39812
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Posteriorly rotated ears, C...	OMIM:615873
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Splenomegaly, Chorea, Inability to walk, Corneal scarring, Athetosis, Pigment...	ORPHA:404454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis	OMIM:617186
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis	OMIM:260600
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Somatic sensory dysfunction, Ataxia, Anisocoria, Spasticity, Hearing impairment	OMIM:615510
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Bickerstaff Brainstem Encephalitis	Ataxia, Dysesthesia, Babinski sign, Abnormal pyramidal sign, Impaired proprioception, Tetraplegia...	ORPHA:79138
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax	ORPHA:558
Trisomy 8P	Posteriorly rotated ears, Cryptorchidism, Aplasia/Hypoplasia of the tragus, Astigmatism, Conducti...	ORPHA:264450
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Cataract, Anhidrosis, Retinal atrophy, Retinal dys...	ORPHA:191
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Hirsutism, Enlarged kidney	ORPHA:90301
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Pneumothorax	OMIM:154700
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ...	ORPHA:96180
Williams Syndrome	Tremor, Dysmetria, Protruding ear, Chronic otitis media, Megalocornea, Low-set, posteriorly rotat...	ORPHA:904
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormality of skin pigmentation, P...	OMIM:619488
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, B-c...	OMIM:619381
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune thrombocytopenia, Tremor, Hemiple...	ORPHA:51
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Pneumonia, Conductive hearing impairment, Respiratory insufficienc...	ORPHA:2135
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chi...	OMIM:615846
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Trisomy 9P	Abnormal pupil morphology, Macrotia, Protruding ear	ORPHA:236
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Anemia	ORPHA:436271
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail...	ORPHA:2909
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp...	ORPHA:320375
Listeriosis	Respiratory distress, Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulom...	ORPHA:533
Nephronophthisis 11	Anisocoria, Anemia	OMIM:613550
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Adrenocortica...	OMIM:130650
Scrub Typhus	Tremor, Splenomegaly, Abnormal bleeding, Anterior uveitis	ORPHA:83317
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Sinusitis, Pneumonia, Respiratory tract infection, Abnorma...	ORPHA:68
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Posteriorly rotated ears, Low-set ears	OMIM:241410
Adult Syndrome	Sparse scalp hair, Absent nipple, Sparse axillary hair, Nail pits, Alopecia of scalp, Hypoplastic...	OMIM:103285
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Sensorineural hearing impairment, Cerebellar hypoplasia, Spastic paraparesis, M...	ORPHA:391408
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Enlarged ki...	OMIM:232200
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Impaired T cell function, Tremor, Splenomegaly, Decreased serum testosterone concentratio...	OMIM:201100
Coffin-Siris Syndrome	Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Hypospadias, Cryptorchidism, Hypopla...	ORPHA:1465
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Alopecia, Phimosis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inf...	ORPHA:99921
Chops Syndrome	Curly hair, Thick eyebrow, Thickened helices, Thick hair, Splenomegaly, Cryptorchidism, Synophrys...	OMIM:616368
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive...	OMIM:233450
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr...	ORPHA:500095
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb...	ORPHA:423479
Noonan Syndrome 9	Cryptorchidism, Prolonged prothrombin time, Prominent corneal nerve fibers	OMIM:616559
Biotinidase Deficiency	Ataxia, Recurrent viral infections, Recurrent candida infections, Recurrent fungal infections, Sp...	ORPHA:79241
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Upper motor ne...	ORPHA:395
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Leukocytosis, Leukopenia, Prolonged prothrombin time, Myoclonus, Thr...	ORPHA:20
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Microcornea, Abnormal toenail morphology, Iris col...	ORPHA:3380
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, De...	OMIM:212750
Cockayne Syndrome B	Anhidrosis, Dry hair, Abnormal hair morphology, Optic atrophy, Developmental cataract, Microcorne...	OMIM:133540
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Unilateral renal agenesis, Low-set ears, Splenic cyst, Enlarged kidney	OMIM:618188
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Retinal degeneration, Synophrys, Optic atrophy, Pigmentary...	ORPHA:581
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor functio...	OMIM:277400
3-Methylglutaconic Aciduria, Type Viii	Cataract, Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Neutropenia	OMIM:617248
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Cornelia De Lange Syndrome 1	Ectopic kidney, Synophrys, Renal cyst, Otitis media, Conductive hearing impairment, Vesicouretera...	OMIM:122470
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea	OMIM:614230
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Developmental catara...	ORPHA:86309
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Cataract, Ataxia, Tremor, Rigidity, Cogwheel rigidity, Gait a...	ORPHA:254892
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Progressive hearing impairment, Posterior subcapsular cataract, Astigmatism, Spastic paraparesis	OMIM:619234
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Anemia	OMIM:220110
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Anemia, Leukopenia, ...	ORPHA:64743
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti...	OMIM:207800
Collagenoma, Familial Cutaneous	Iris atrophy, Sensorineural hearing impairment, Primary testicular failure	OMIM:115250
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Reti...	ORPHA:2556
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali...	ORPHA:2552
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr...	OMIM:194080
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Neutropenia, Corneal scarring, Buphthalmos, Pigmentary retinop...	OMIM:618460
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent pneumonia, Spas...	ORPHA:2203
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thrombocy...	OMIM:251100
Oculopalatocerebral Syndrome	Spasticity, Leukocoria	OMIM:257910
Cockayne Syndrome A	Anhidrosis, Dry hair, Cataract, Retinal atrophy, Retinal pigment epithelial mottling, Optic atrop...	OMIM:216400
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy...	ORPHA:646
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Lethargy, Hypochromic microcytic anemia	ORPHA:97214
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Unsteady gait, Norm...	OMIM:615512
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Emphysema, Cryptorchidism	ORPHA:2834
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Ataxia, Tremor, Cryptorchidism, Low-set ears, Intention tremor	OMIM:614052
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Chronic Visceral Acid Sphingomyelinase Deficiency	Respiratory failure requiring assisted ventilation, Hepatomegaly, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Shigellosis	Acute colitis, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritoni...	ORPHA:810
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Decreased circulating IgG level, Impaired neutrophil chemotaxi...	ORPHA:3132
Wilson Disease	Hemolytic anemia, Dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Thrombocytop...	OMIM:277900
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Woolly hair, Recurrent infections, Uncombable hair, Gener...	ORPHA:84064
Mandibuloacral Dysplasia	Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Hurler Syndrome	Cerebral palsy, Corneal opacity, Splenomegaly, Abnormal pyramidal sign, Abnormality of skin pigme...	ORPHA:93473
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe...	OMIM:222470
Dubowitz Syndrome	Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Protruding ear, Abnormal...	ORPHA:235
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches	ORPHA:96061
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Cerebellar gliosis, Apneic episodes in infancy, Aspiration pneumonia, Dystonia	ORPHA:35069
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221008
Postinfectious Vasculitis	Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost...	ORPHA:48435
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema	OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Cataract, Peters anomaly, Partial absence of cerebellar vermis, Buphthalmos...	OMIM:613150
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Viss Syndrome	Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Increased circulating IgG level, ...	OMIM:619472
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Tremor, Paroxysmal vertigo, Vocal cord paralysis, Anirid...	ORPHA:29072
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorr...	ORPHA:99147
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Normochromic anemia, Glomerular sclerosis, ...	ORPHA:247691
Incontinentia Pigmenti	Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ...	ORPHA:464
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Split Cord Malformation	Paraparesis, Spinal cord tumor, Chiari malformation, Capillary hemangioma, Lipoma, Teratoma	ORPHA:573278
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara...	ORPHA:744
Williams-Beuren Syndrome	Incoordination, Sensorineural hearing impairment, Poor coordination, Vocal cord paralysis, Blue i...	OMIM:194050
Distal Deletion 6P	Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechiae...	ORPHA:96125
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Chorioretinal hyperpigmentation, Sensorineural hearing impairment, Prolonged ...	OMIM:618329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Marburg Hemorrhagic Fever	Abnormal bleeding, Lymphopenia, Reticulocytosis, Petechiae, Dysesthesia, Orchitis, Excessive blee...	ORPHA:99826
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, ...	ORPHA:79255
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221016
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Alagille Syndrome	Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Protruding ear	ORPHA:52
Cartilage-Hair Hypoplasia	Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow	ORPHA:175
Melas	Vitiligo, Optic atrophy, Pigmentary retinopathy, Hypertrichosis	ORPHA:550
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly	OMIM:601005
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Pneumonia	OMIM:608033
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Pr...	OMIM:251260
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Conju...	ORPHA:36426
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Sensorineu...	OMIM:612541
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Anuria, Pneumonia, Acute kidney injury, Respirato...	ORPHA:544482
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cystinosis, Nephropathic	Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypohidrosis, Pigmentary retinopat...	OMIM:219800
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:95159
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Microtia, Nephroblastoma, Enlarged kidney	ORPHA:276280
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Abnormal pinna morphology, Partial absence of speci...	ORPHA:79324
Marshall-Smith Syndrome	Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Aspiration pneumonia, Sparse hair, Agen...	OMIM:602535
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Pigmentary retinopathy, ...	ORPHA:79282
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Thickened helices, Spasticity, Macrotia	ORPHA:2714
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Hypopigm...	ORPHA:95455
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Abnormal central motor ...	ORPHA:3385
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Dystonia, Left ventricular hypertr...	OMIM:619167
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Cupped ear, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morpholog...	OMIM:618223
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Pancytopenia, Recurrent urinary tract infections, Mixed hearing impairment, P...	ORPHA:309282
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Clonus, Sclerocornea, Cataract, Ectopia lentis, ...	ORPHA:649
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Congenital sensorineural hearing impairment, Anisocoria, Abnormal pupil shape	ORPHA:45358
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Hypoplasia of the pons, Sensorineural hearing impairment, Low-set ears, Aspir...	OMIM:616430
Classical Ehlers-Danlos Syndrome	Ecchymosis, Abnormal cornea morphology, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Sialuria	Prolonged prothrombin time, Hyperkinetic movements, Low-set ears, Hepatosplenomegaly	ORPHA:3166
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized...	ORPHA:1896
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Partial anomalous pu...	OMIM:618280
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiop...	ORPHA:2330
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Hemiplegia/hemiparesis, Abnormality of the spleen, C...	ORPHA:1606
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ...	ORPHA:2637
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Facial Spasm	Anisocoria	OMIM:134300
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Low-set ears, Neutropenia, Thrombocytopenia	OMIM:617941
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Recurrent bacterial infections, Nail dystrophy	OMIM:615895
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism	OMIM:619769
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low...	ORPHA:508
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Cataract	OMIM:607459
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Postural tremor, Seborrheic dermatitis, Splenomegaly, Gliosis, ...	OMIM:301072
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Hepatosplenomegaly, Decreased circulati...	ORPHA:247598
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Macrotia, Low-set ears	ORPHA:65286
Alagille Syndrome 1	Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorioretinal atrophy, Microcor...	OMIM:118450
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Cataract	OMIM:272460
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Corneal stromal edema, P...	ORPHA:699
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest...	ORPHA:747
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry...	ORPHA:353281
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Immunodeficiency 87 And Autoimmunity	Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Persistent EBV viremia, Se...	OMIM:619573
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ...	ORPHA:314655
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia	ORPHA:99772
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363958
Lissencephaly Due To Lis1 Mutation	Cerebellar vermis hypoplasia, Aspiration pneumonia, Opisthotonus	ORPHA:95232
Neurooculorenal Syndrome	Iris atrophy, Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Mixed hearing i...	OMIM:620305
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Ectopia lentis, Lens luxation, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Alopecia, Absent eyebrow, Thin fingernail, Abnormal eyelash mor...	ORPHA:2273
Adrenomyeloneuropathy	Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment, Spasticit...	ORPHA:139399
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bruising susceptibility, Abnormality iris morphology, Subarachnoid hemorrhage	ORPHA:91387
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin	OMIM:301066
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold...	ORPHA:1974
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul...	OMIM:253200
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Oculogyric crisis, Pulmonary embolism, Tremor, Leukocytosis, A...	ORPHA:94093
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Pneumonia, Breast carcinoma, Macroorchidism, Hyperpigmentation of the skin	ORPHA:90790
Acyl-Coa Dehydrogenase 9 Deficiency	Cerebellar hemorrhage, Prolonged prothrombin time, Thrombocytopenia	ORPHA:99901
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypoplastic toenails, Synophrys, Aspiration pneumonia, Conductive hearing impairment, Vesicourete...	ORPHA:444077
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Scorpion Envenomation	Hemifacial spasm, Purpura, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus, Mydriasis	ORPHA:466677
Retinoblastoma	Vitreous hemorrhage, Leukemia, Leukocoria	OMIM:180200
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:79277
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Cafe-au-lait spot, Hearing impairment	OMIM:227650
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Chiari type I malformation, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Chiari type I malformation, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, A...	ORPHA:353277
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Small earlobe, Agenesis of corpus callosum, Dandy-Walker malformation, ...	OMIM:264090
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Leukopenia, Aminoaciduria, Lymphocytosis, Cough, Hepat...	OMIM:619991
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Mixed hearing impairment	OMIM:201180
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Cataract, Developmental cataract, Pigmentary retinopathy, Sparse hair	OMIM:606721
Alkaptonuria	Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail	ORPHA:56
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormal hemoglobin, Anemia	ORPHA:847
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac...	ORPHA:26793
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Synophrys, Melanocytic nevus, Abnormality of skin pigmentation, Hypopigmentation o...	OMIM:619475
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling	ORPHA:910
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Doors Syndrome	Respiratory distress, Increased urine alpha-ketoglutarate concentration, Small cerebellar cortex,...	ORPHA:79500
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Slurr...	ORPHA:90062
Cholera	Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Acute kidney injury, Decreased u...	ORPHA:173
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Knobloch Syndrome 2	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:618458
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Uveitis, Hepatosplenomegaly, Polyclonal elevation o...	ORPHA:171
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Microphthalmia, Syndromic 2	Posteriorly rotated ears, Asymmetry of the ears, Anteverted ears, Cryptorchidism, Sensorineural h...	OMIM:300166
Sotos Syndrome	Hydrocele testis, Small cell lung carcinoma, Pulmonary bleb, Cryptorchidism	ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Uplifted earlobe, Asplenia, Abnormal pupil morphology, Chiari type ...	ORPHA:261552
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Prolonged prothrombin time, Ataxia	OMIM:311250
Yellow Fever	Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos...	ORPHA:99829
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly	OMIM:617809
Ring Chromosome 13 Syndrome	Alopecia, Posteriorly rotated ears, Macrotia, Abnormality of skin pigmentation, Cafe-au-lait spot	ORPHA:96176
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Prolonged prothrombin time, Myoclonus	OMIM:619055
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Decreased circulating IgG level	OMIM:613070
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Cataract, Corneal opacity, Optic disc hypoplasia, Synophrys, Optic atrophy, Pi...	ORPHA:3455
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Alopecia	OMIM:619321
Lysinuric Protein Intolerance	Recurrent bacterial infections, Increased circulating antibody level, Decreased circulating antib...	ORPHA:470
Hypermethioninemia Due To Adenosine Kinase Deficiency	Sensorineural hearing impairment, Prolonged prothrombin time	OMIM:614300
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Prolonged prothrombin time, Cerebellar hypoplasia	ORPHA:88618
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Prominent crus of helix, Low anterior hairline, Abnormality of skin pigmen...	ORPHA:1449
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
Gardner Syndrome	Abnormality of skin pigmentation, Pilomatrixoma	ORPHA:79665
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Monosomy 13Q34	Posteriorly rotated ears, Epistaxis, Abnormal earlobe morphology, Hematochezia, Prolonged prothro...	ORPHA:96168
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Exaggerated startle response, Apnea, Breathing dysregulation, Cryptorchidism, Ne...	ORPHA:438213
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Optic atrophy, Iri...	ORPHA:818
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus	ORPHA:201
Fanconi Anemia	Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypop...	ORPHA:84
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Decreased serum insulin-like growth factor 1, Prolonged prothrombin time	OMIM:614921
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr...	OMIM:619525
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Semilobar Holoprosencephaly	Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Sensorineural hearing impairment, Aspiration pneumonia, Limb dystonia, Agenesis of...	ORPHA:93924
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Protruding ear, Absent fingernail, Aspiration pneumonia, Small earl...	OMIM:216340
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Pmm2-Cdg	Respiratory distress, Pericarditis, Cerebellar vermis hypoplasia, Proteinuria, Abnormal pinna mor...	ORPHA:79318
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal bleeding, Cryptorchidism, Abnormal pupil morphology, Vertigo, Aplasia/Hypop...	ORPHA:286
Microphthalmia, Syndromic 1	Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Iris coloboma	OMIM:309800
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections	ORPHA:642

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term developmental dysplasia	Lyst^{tm1b(EUCOMM)Wtsi}	HOM		Early adult
Ear - MPATH pathological process term inflammation	Lyst^{tm1b(EUCOMM)Wtsi}	HOM		Early adult

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 Lyst.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.	Scientific reports (August 2019)	Lyst^{tm1b(EUCOMM)Wtsi}	PMC6672016

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

MGI Allele	Allele Type	Produced
Lyst^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lyst^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lyst^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Lyst^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lyst MGI:107448

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

X-ray

X-ray

Histopathology

Human diseases caused by Lyst mutations

Histopathology

IMPC related publications

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