Gene Summary

Name:
lysosomal trafficking regulator
Synonyms:
D13Sfk13

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Lysttm1b(EUCOMM)Wtsi HOM Early adult 7.63×10-05
decreased prepulse inhibition Lysttm1b(EUCOMM)Wtsi HOM   Early adult 8.45×10-05
increased mean corpuscular hemoglobin Lysttm1b(EUCOMM)Wtsi HOM Early adult 2.03×10-06
decreased locomotor activity Lysttm1b(EUCOMM)Wtsi HOM Early adult 3.35×10-07
increased fasting circulating glucose level Lysttm1b(EUCOMM)Wtsi HOM   Early adult 1.09×10-05
preweaning lethality, incomplete penetrance Lysttm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased grip strength Lysttm1b(EUCOMM)Wtsi HOM   Early adult 6.53×10-06
abnormal iris morphology Lysttm1b(EUCOMM)Wtsi HOM Early adult 6.44×10-17
abnormal retina morphology Lysttm1b(EUCOMM)Wtsi HOM Early adult 2.40×10-14
abnormal coat/hair pigmentation Lysttm1b(EUCOMM)Wtsi HOM Early adult 8.53×10-25

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

17 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

2 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

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.

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

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

Disease Similarity of
phenotypes
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
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
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
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
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, 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
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Generalized... OMIM:103500
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... 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
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Reduced delayed hypersensitivity, Melanin pigment... OMIM:607624
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Immunodeficiency 20
Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... OMIM:616053
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Choroideremia
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm... OMIM:303100
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation OMIM:614493
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia ORPHA:99000
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Gait ataxia, Positive Romberg sign, Babinski sign... OMIM:608984
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Candidiasis, Familial, 1
Cutaneous anergy, Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Spastic Paraparesis-Deafness Syndrome
Cataract, Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Sensorineural hea... ORPHA:2815
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo... OMIM:275400
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Paraparesis, Impaired distal proprioception ORPHA:231445
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,... ORPHA:320370
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ... OMIM:608051
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Deafness, Congenital, With Total Albinism
Albinism, Hearing impairment OMIM:220900
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy ORPHA:79476
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Optic nerve ... OMIM:617319
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Spasticity, Dysgenesis of the cerebellar vermis, Hearing impairm... ORPHA:67048
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
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation ORPHA:2222
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Hypopigmentation of the skin, Decreased circulating total IgM OMIM:610798
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Generalized hyperpigmentation ORPHA:2297
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Dis... OMIM:302800
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb ataxia, Gait ataxia... OMIM:615157
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Aplas... ORPHA:231169
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... ORPHA:231183
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect... ORPHA:60033
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation ORPHA:2253
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia 6
Cerebellar atrophy, Frequent falls, Incoordination, Vertigo, Dysmetria, Loss of ambulation, Ataxi... OMIM:183086
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Nystagmus 6, Congenital, X-Linked
Astigmatism, Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Dystoni... OMIM:606693
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail OMIM:302000
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infection... OMIM:300291
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... OMIM:248900
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presenile cataracts, Spontaneo... ORPHA:182050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab... ORPHA:89838
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Free Sialic Acid Storage Disease
Iris hypopigmentation, Spasticity, Splenomegaly, Abnormal pyramidal sign, Oculomotor apraxia, Gai... ORPHA:834
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo... ORPHA:98762
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... ORPHA:284332
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Ground-glass opacification, Increased circulating IgE level, Ost... ORPHA:1163
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Eem Syndrome
Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr... ORPHA:1897
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Babinski sign, Vest... ORPHA:504476
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Chediak-Higashi Syndrome
Ataxia, Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, ... OMIM:214500
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab... ORPHA:101110
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystro... OMIM:614500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Spasticity, Bone marrow hypocellularity, Hypopigmented s... ORPHA:381
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, White hair, Ocular albin... ORPHA:2720
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Friedreich Ataxia
Spasticity, Falls, Hearing impairment, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Inten... ORPHA:95
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation... ORPHA:79399
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Sparse hair, Abnormality of retinal pigmentation, Uncombable hair ORPHA:1264
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of s... OMIM:251270
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Dystonia 23
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... OMIM:613101
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Emphysema, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Hermansky-Pudlak Syndrome 5
Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr... OMIM:614074
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A... OMIM:614742
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Developmental cataract, Developmental glaucoma ORPHA:101005
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ... ORPHA:2585
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Usher Syndrome
Cataract, Abnormal vestibular function, Abnormality of retinal pigmentation, Astigmatism, Sensori... ORPHA:886
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ... OMIM:619281
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Amyloidosis, Primary Localized Cutaneous, 3
Generalized hyperpigmentation, Hypermelanotic macule OMIM:617920
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment OMIM:300650
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Hypopla... OMIM:619172
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl... OMIM:617854
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hy... ORPHA:3240
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Aplasia/... ORPHA:79262
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair ORPHA:3363
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Agenesis of corpus callosum, Recurrent respiratory infections, Chron... OMIM:619466
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia, Recurrent infections ORPHA:210128
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Cataract OMIM:261600
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Leukopenia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Ataxia, Anemia, Chore... ORPHA:27
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki... OMIM:619374
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Vertigo,... ORPHA:3318
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... OMIM:619767
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ... OMIM:614076
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... ORPHA:1818
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Peroxisome Biogenesis Disorder 8B
Cataract, Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Cerebellar vermis at... OMIM:614877
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue... OMIM:203100
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis ORPHA:496756
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... ORPHA:254343
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid le... OMIM:614743
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Resting tremor, Falls, Gait... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Riboflavin Transporter Deficiency
Iris hypopigmentation, Progressive hearing impairment, Myoclonus, Tremor, Ataxia ORPHA:97229
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Optic Atrophy 3, Autosomal Dominant
Cataract, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism... OMIM:105550
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Heimler Syndrome 1
Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Scis... ORPHA:521406
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray... OMIM:611584
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... ORPHA:3261
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Hearing impairment, Fine hair, Premature ... OMIM:613990
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... OMIM:178500
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Plasmacytosis ORPHA:60026
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Sensorineural hearing impairment OMIM:620086
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613989
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis m... OMIM:300455
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi... OMIM:620321
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia,... ORPHA:167
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular v... OMIM:127550
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Astigmatism, Dysmetria, Loss of ambulation, ... OMIM:616680
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Pulmonary fibrosis, Honeycomb lung, Premature graying of hair OMIM:616371
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apra... OMIM:300423
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia, Pulmonary fibrosis OMIM:620400
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389