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Gene: Setmar MGI:1921979

Gene Summary

Name:

SET domain without mariner transposase fusion

Synonyms:

5830404F24Rik, Etet2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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 gait	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.39×10^-05
abnormal coat/hair pigmentation	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.41×10^-05
abnormal behavior	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.28×10^-07
increased circulating triglyceride level	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.99×10^-09
abnormal retina pigmentation	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.35×10^-06
increased circulating potassium level	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.94×10^-05
thrombocytopenia	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.39×10^-05
cataract	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.91×10^-05
abnormal eye morphology	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.42×10^-07
decreased circulating glycerol level	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.62×10^-09
abnormal retina morphology	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.35×10^-06
abnormal lens morphology	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.03×10^-05
abnormal vertebrae morphology	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.42×10^-06
tremors	Setmar^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.11×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	50% (1 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	Ambiguous
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	Not available
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Setmar^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Setmar^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Male, WTSI

Setmar^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Setmar^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

View all 73 images

Setmar^{tm1a(EUCOMM)Wtsi}
eye, abnormal retinal pigmentation, HOM, Female, WTSI

Setmar^{tm1a(EUCOMM)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Setmar^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, eye, HOM, Male, WTSI

View all 7 images

Setmar^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Setmar 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 Setmar (0 diseases)
Human diseases predicted to be associated with Setmar (1420 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Pigmenta...	OMIM:614307
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Incoordination, Gait ataxia, Increased LDL cholesterol concentration, Developmental cataract, Fai...	OMIM:618808
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance	ORPHA:1178
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Waddling gait, Babinski sign, Pigmentary retinopathy, Scoliosis, Spasticity	OMIM:619090
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Hyperreflexia	Ankle clonus, Abnormality of retinal pigmentation	OMIM:145290
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Lower limb spasticity, Generalized dystonia, Ataxia, Retinal pigment epithelia...	OMIM:619389
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, B...	ORPHA:506353
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Pigmentary retinopathy, Progressive cere...	OMIM:164500
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Griscelli Syndrome Type 1	Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia, Reti...	ORPHA:79476
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract, Optic atrophy	ORPHA:2253
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,...	ORPHA:33445
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Dysequilibrium Syndrome	Cerebral palsy, Cataract, Ataxia, Gait disturbance	ORPHA:1766
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Pigmentary retinopathy, Neutropenia, Intention tr...	OMIM:266130
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Kyphosis, Corneal erosion, Ab...	ORPHA:816
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia	OMIM:236130
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemi...	ORPHA:3363
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,...	ORPHA:170
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Scoliosis	OMIM:213000
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse ha...	OMIM:275400
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis	ORPHA:2815
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Spasticity, Elevated circulating creatine kinase concentration	OMIM:617613
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia	OMIM:551500
Spastic Paraparesis And Deafness	Tremor, Cataract, Spastic paraparesis	OMIM:312910
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem...	OMIM:204000
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Cataract, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:617404
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Short neck, Optic atrophy, Hypertonia	ORPHA:1466
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Conjunc...	OMIM:603552
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil...	ORPHA:673
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat...	ORPHA:48818
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Parkinsonism, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Abnormality ...	OMIM:204200
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficulty walking, Fas...	OMIM:610717
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Hemiplegia/hemiparesis, Abnormal opti...	ORPHA:65
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia,...	ORPHA:171844
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Kearns-Sayre Syndrome	Progressive intervertebral space narrowing, Abnormality of retinal pigmentation, Ataxia, Hemipleg...	ORPHA:480
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Cataract, Postural tremor, Babinski sign, Spastic paraplegia, Optic atroph...	OMIM:270800
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Cataract, Ataxia, Clonus, Retinal dystrophy, Rigidity, Babinski sign, Elev...	OMIM:614877
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax...	ORPHA:363400
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Autosomal Recessive Spastic Paraplegia Type 15	Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand tremor, Pigmentary retinopathy, Ps...	ORPHA:100996
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations	OMIM:615048
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Synophrys, Hypertonia,...	ORPHA:1390
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibul...	OMIM:617284
Leukoencephalopathy With Vanishing White Matter 2	Spasticity, Cataract, Optic atrophy, Unsteady gait	OMIM:620312
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cln3 Disease	Extrapyramidal muscular rigidity, Cataract, Ataxia, Bull's eye maculopathy, Vacuolated lymphocyte...	ORPHA:228346
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair	ORPHA:1264
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Poor gross mo...	ORPHA:370968
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Ataxia, Broad-based gait, Optic atrophy, Pigme...	OMIM:609033
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Ataxia, Truncal titubation, Kyphosis, Gait ata...	ORPHA:88628
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Cataract, Retinal dystrophy	OMIM:615995
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Kyphosis, Platyspondyly, Hypopig...	ORPHA:2786
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Spastic diplegia, A...	ORPHA:290
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba...	ORPHA:644
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Optic atrophy, Pigmentary retinopathy, Hypertonia, Dystonia, Rod-cone dystrophy	OMIM:264470
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia	ORPHA:401830
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:615703
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Kyphoscoliosis, Rod-cone dystrophy, Alopecia of scalp	OMIM:136300
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Cataract, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle ...	OMIM:614409
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Scoliosis, Difficu...	OMIM:614018
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Babinski sign, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Ane...	OMIM:159550
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Macular dystrophy, Retino...	ORPHA:1897
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Chédiak-Higashi Syndrome	Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,...	ORPHA:167
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal pyramidal sign, Pigmentary retinopathy, Gait imbalance, Scoliosis, Loss of ambulation, L...	ORPHA:329336
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
3-Methylglutaconic Aciduria Type 4	Spasticity, Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary r...	OMIM:222300
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia, Intention ...	OMIM:610539
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Griscelli Syndrome Type 2	Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Oculopharyngodistal Myopathy 3	Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration	OMIM:619473
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu...	OMIM:612526
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu...	ORPHA:284289
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl...	ORPHA:381
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Birk-Landau-Perez Syndrome	Dystonia, Camptocormia, Hyperkalemia, Optic atrophy, Limb ataxia, Choreoathetosis, Long eyelashes...	OMIM:617595
Werner Syndrome	Low back pain, Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Alopecia of scalp, Retina...	OMIM:277700
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Rod-cone dystrophy, Inability to walk, Opisthotonus, Pig...	ORPHA:216866
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:610185
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Prune1-Related Neurological Syndrome	Cataract, Elevated circulating creatine kinase concentration, Clonus, Spastic tetraparesis, Inabi...	ORPHA:544469
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Joubert Syndrome 28	Optic disc pallor, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Oculomotor apraxia	OMIM:617121
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Kyphosis, Hyperlordosis	ORPHA:3085
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan...	OMIM:277460
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Kyphosis, Keratoglobus, Astigmatism, Hypertonia...	OMIM:108145
Myopathy, Mitochondrial, And Ataxia	Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Inability to walk...	OMIM:617675
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Optic atrophy, Pigmentary retinopathy, Myoclonus, Truncal ataxia...	OMIM:252011
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,...	ORPHA:157850
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98863
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to wal...	OMIM:608885
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Optic atrophy, Hypertonia, Steppage gait, Scoliosis, Spasticity	OMIM:609260
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis,...	ORPHA:289916
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Cataract 11, Multiple Types	Hypertonia, Chorea, Cataract, Developmental cataract	OMIM:610623
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:224050
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Ataxia, Gait disturbance, Retinopathy	ORPHA:578
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Scoliosis, Dystonia, Difficulty walking	ORPHA:330050
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Maternally-Inherited Diabetes And Deafness	Cataract, Ataxia, Abnormal chorioretinal morphology, Macular dystrophy, Abnormal circulating lipi...	ORPHA:225
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Optic atrophy, Microcornea, Lum...	OMIM:616171
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Cataract, Ataxia	OMIM:278780
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Unsteady gait, Retinal degeneration	OMIM:520000
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina...	ORPHA:682
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Baralle-Macken Syndrome	Cataract, Kyphosis, Inability to walk, Dystonia, Spasticity, Cafe-au-lait spot, Hirsutism	OMIM:619255
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocy...	OMIM:301080
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98853
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Kyphosis, Optic atrophy, Gait disturbance, Scoliosis	ORPHA:99014
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Spastic tetraplegia, Developmental cataract, Hypertonia, Thrombocytopenia	OMIM:601815
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Generalized hirsutism	ORPHA:3019
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Atelis Syndrome 1	Cataract, Lumbar kyphosis, Anemia, Leukopenia, Hypertonia, Irregular hyperpigmentation, Cafe-au-l...	OMIM:620184
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98855
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Spasticity, Babinski sign, Abnormal pyramidal sign	ORPHA:397951
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Hemiplegia, Abnormality of retinal pigmentation	ORPHA:2743
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Microcornea, Long eyelashes, Scol...	ORPHA:48431
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, Short neck	OMIM:616606
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Chorea, Remitting, With Nystagmus And Cataract	Chorea, Cataract	OMIM:601372
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Optic atrophy, Frontal upsweep of hair, Spasticity	OMIM:300983
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hyperglycinemia, Scoliosis, Hyperalaninemia, Spasticity	OMIM:619059
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Paraparesis, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Choreo...	ORPHA:27
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619302
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy	ORPHA:79095
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ...	ORPHA:3437
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Laurence-Moon Syndrome	Pigmentary retinopathy, Spastic paraplegia, Ataxia, Chorioretinal atrophy	OMIM:245800
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619301
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hypoalbuminemia, ...	ORPHA:14
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Rod-cone dystrophy, Babinski sign, Optic atrophy, Dysmetria, Spasticity, Subcap...	OMIM:612674
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Small nail	OMIM:619470
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Synophrys, Scoliosis, Hypercholesterolemia	OMIM:182290
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Peroxisome Biogenesis Disorder 5B	Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Elevated circulating phytanic acid concentratio...	OMIM:614867
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Ataxia, Abnormal dense granu...	OMIM:214500
Srd5A3-Cdg	Cataract, Ataxia, Optic disc hypoplasia, Microcytic anemia, Abnormal hair morphology, Kyphosis, A...	ORPHA:324737
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemipl...	ORPHA:79254
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia, Developmental cataract	ORPHA:1368
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Cataract, Sparse eyelashes, Sparse eyebr...	OMIM:617988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Inability to walk, Pigmentary ...	OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 46	Lower limb spasticity, Broad-based gait, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign...	ORPHA:320391
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl...	ORPHA:2590
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign...	OMIM:300055
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Spasticity, Athetosis, Hypopigmentation of the skin	OMIM:257800
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia,...	OMIM:203800
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Synophrys, Abnormal form of the vertebral bodies, Micro...	ORPHA:819
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form ...	ORPHA:812
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abno...	ORPHA:773
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Hermansky-Pudlak Syndrome 9	Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmentation of the fundus, Hypop...	OMIM:614171
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i...	OMIM:177650
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Tetraplegia, Hand tremor, Gait disturbance, Fasciculations, Mildly elevated creat...	OMIM:604484
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Scoliosis, Hypophosphatemia, Retinopathy...	ORPHA:2611
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Cataract, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Scolios...	ORPHA:101006
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ...	ORPHA:414
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep...	OMIM:145350
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinatio...	ORPHA:79264
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp...	OMIM:618387
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ...	OMIM:604290
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Ataxia, Supernumerary nipple, Hemiplegia/hemiparesis, Optic ...	ORPHA:1173
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Spasticity, Cataract, Retinal dystrophy	OMIM:610156
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Kyphosis, Scoliosis	OMIM:618234
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thro...	ORPHA:79312
Aicardi-Goutieres Syndrome 3	Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Multiple Epiphyseal Dysplasia, Beighton Type	Waddling gait, Low back pain, Thoracic scoliosis, Cataract, Retinal thinning, Antalgic gait, Thor...	ORPHA:166011
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Sco...	OMIM:159950
4H Leukodystrophy	Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ...	ORPHA:289494
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Cataract, Retinal pigment epithelial mottling, Dystonia, Sparse hair	OMIM:614105
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Kyphosis, Optic atrophy, Microcornea, Retinal colo...	ORPHA:2510
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren...	OMIM:610600
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,...	ORPHA:96180
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis	OMIM:619013
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Tremor, Dysmetria, Pigmentary retinopathy, Progressive cerebellar ...	ORPHA:502423
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Ataxia, Abnormal granulocyte morphology, Abnormal circulating cre...	ORPHA:98907
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Irregular vertebral endplates, Platyspondyly, Vitreoretinopathy, As...	ORPHA:250984
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Leigh Syndrome	Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Spasticity, Hypertrichosis	OMIM:256000
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Hypoplastic optic chiasm,...	OMIM:210000
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Scoliosis	OMIM:617481
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, R...	OMIM:617710
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ...	OMIM:249270
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Cataract, Ataxia, Macular coloboma, Macular atrophy, Geographi...	OMIM:619260
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Subcapsular cataract, Rod-cone dystrophy	OMIM:268020
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Juvenile Sialidosis Type 2	Lower limb spasticity, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenom...	ORPHA:93399
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Kyphosis, Inability to walk, Limb myoclonus, Gait ataxia...	ORPHA:3095
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Rigidity, Optic atrophy, Gait disturbance, Chorioretinal colobo...	ORPHA:163937
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa...	ORPHA:391417
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen...	ORPHA:411515
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Pigmentary retinopathy, Lower limb hypertonia, Spast...	ORPHA:3208
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Kyphoscoliosis	OMIM:619099
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Scoliosis, Dystonia, Difficulty walking	ORPHA:306669
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia,...	OMIM:617435
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Sialidosis Type 2	Corneal opacity, Ataxia, Tremor, Splenomegaly, Kyphosis, Abnormal macular morphology	ORPHA:87876
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus, Thrombocytopenia	ORPHA:3327
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin...	OMIM:600462
Hypoadrenocorticism, Familial	Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia	OMIM:240200
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin	OMIM:617575
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic atrophy, Coar...	ORPHA:585
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:615704
Microtriplication 11Q24.1	Keratoconus, Speech apraxia, Short neck, Hyperlipidemia, Synophrys, Hyperkinetic movements, Long ...	ORPHA:289522
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ...	OMIM:234200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c...	ORPHA:100
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Cockayne Syndrome Type 1	Lower limb spasticity, Cataract, Ataxia, Hypermelanotic macule, Tremor, Optic atrophy, Pigmentary...	ORPHA:90321
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Ataxia, Elevated circulating creatine...	OMIM:610377
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia	OMIM:614082
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Hepatosplenomegaly, Anemia, Hypocalcemia, Opt...	ORPHA:210110
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus	ORPHA:2801
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Fine hair, Premat...	OMIM:612199
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degeneration, Myoclonus	OMIM:619780
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556037
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Achondrogenesis Type 2	Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac...	ORPHA:93296
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Usher Syndrome Type 3	Cataract, Ataxia, Astigmatism, Iris hypopigmentation	ORPHA:231183
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color, Astigmatism, Platyspondyly	ORPHA:1824
Pseudohypoaldosteronism Type 2	Hyperkalemia, Periodic paralysis	ORPHA:757
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Anemia o...	ORPHA:75564
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Lumbar hyperlordosis, Hypermelanotic macule, Ovoid vertebral bodies,...	OMIM:242900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Cog4-Cdg	Ataxia, Thick hair, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia	ORPHA:263501
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Abnormal eyelash morphology, Optic atrophy, Hypertonia, Scol...	ORPHA:2518
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Scoliosis, Eyelid myoclonus	OMIM:616421
Canavan Disease	Abnormality of retinal pigmentation, Hypertonia, Optic atrophy	ORPHA:141
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Cockayne Syndrome	Dry hair, Progressive gait ataxia, Lentiglobus, Hypertonia, Retinal arteriolar constriction, Reti...	ORPHA:191
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology, Platyspondyly, Abnormal vertebr...	ORPHA:90653
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Alg8-Cdg	Hyponatremia, Cataract, Ataxia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia	ORPHA:79325
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Abnorm...	ORPHA:85194
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Kyphosis, Scoliosis, Rod-cone dystrophy	ORPHA:2047
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Inability to ...	OMIM:128100
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Scoliosis	OMIM:616222
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Congenital Disorder Of Glycosylation, Type Iik	Kyphoscoliosis, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor...	ORPHA:1493
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Cataract, Kyphosis, Optic atrophy, Abnormal form of the vert...	ORPHA:192
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Prematur...	ORPHA:3322
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Albinism, Impaired ADP-induced platelet ...	OMIM:614074
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, Sclerotic vert...	OMIM:611490
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Heimler Syndrome 1	Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy	OMIM:234580
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Optic atrophy, Unsteady gait, Clumsiness, ...	ORPHA:137898
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Hyperpigmentation of the skin, Hypokalemia, Hypocalcemia, Nail dysplasia, Hyp...	OMIM:175500
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia	OMIM:264350
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair	OMIM:269600
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
3-Methylglutaconic Aciduria, Type Viib	Cataract, Ataxia, Dystonia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movem...	OMIM:616271
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism, Scoliosis, Oculomotor apraxia	OMIM:612285
Joubert Syndrome 3	Retinal dystrophy, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Oculomotor apraxia	OMIM:608629
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus, Thrombocytopenia	OMIM:274240
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma, Astigmatism, Corneal dystrophy	OMIM:253250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia, Steppage gait, ...	OMIM:616505
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia	OMIM:231000
Mirage Syndrome	Hyponatremia, Hyperkalemia, Paraplegia, Anemia, Leukopenia, Scoliosis, Hypoplastic spleen, Lympho...	OMIM:617053
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Cataract, Tremor, Inability to walk, Babinski sign, Tongue t...	ORPHA:466768
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:177735
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Hypertonia, Scoliosis, Spasticity, Thrombocytopenia	OMIM:616577
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ...	OMIM:615651
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hirsutism	OMIM:604367
Muscle-Eye-Brain Disease	Cataract, Elevated circulating creatine kinase concentration, Hemiplegia/hemiparesis, Optic atrop...	ORPHA:588
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Lumbar hyperlordosis, Thick hair, Short neck, Inability to w...	ORPHA:505248
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Corneal opacity, Hypermelanotic macule, Ovoid vertebral bodies, Short neck,...	ORPHA:1830
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration, Ataxia	OMIM:614879
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Reticulated skin pigmentation, Fine hair, Premat...	OMIM:613990
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ...	ORPHA:2457
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia, ...	OMIM:606069
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypo...	ORPHA:31150
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Tremor, Abnormality of macular pigmentation, Myoclonus, Iris hypopigme...	ORPHA:97229
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia	ORPHA:79242
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Retinal dystrophy,...	ORPHA:713
Hypoparathyroidism, Familial Isolated, 1	Cataract, Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Thoracic kyphoscoliosis, Cataract, Spinal canal stenosis, Developmental cataract, Scoliosis, Thic...	ORPHA:436174
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Retinopathy, Hypopigmentation of the skin...	ORPHA:158029
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype...	OMIM:261640
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Wt Limb-Blood Syndrome	Pancytopenia, Leukemia, Irregular hyperpigmentation, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul...	OMIM:607694
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Kyphoscoliosis, Tremor, Inability to walk, Developmental glaucoma, Vocal cord paralysis...	ORPHA:99956
Nevus Comedonicus Syndrome	Cataract, Abnormal hair morphology, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology	ORPHA:64754
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Scoliosis, Re...	OMIM:229200
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spastic paraparesis	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Infantile Refsum Disease	Cataract, Ataxia, Elevated circulating phytanic acid concentration, Optic atrophy, Spasticity, Ro...	ORPHA:772
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Pseudobulbar par...	OMIM:607371
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, H...	ORPHA:528
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Classic Homocystinuria	Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Retinal detachment, Ectopia len...	ORPHA:394
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Xeroderma Pigmentosum, Complementation Group B	Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Spasticity	ORPHA:70472
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Abnormal pyramidal ...	ORPHA:2719
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thym...	OMIM:214110
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Myoclonus, Scoliosis, Gait imbalance,...	ORPHA:98794
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Warburg Micro Syndrome 3	Lower limb spasticity, Cataract, Kyphoscoliosis, Inability to walk, Low anterior hairline, Spasti...	OMIM:614222
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Optic atrophy, Developmental cataract, Pigmen...	OMIM:613154
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Mucopolysaccharidosis-Plus Syndrome	Short neck, Splenomegaly, Synophrys, Inability to walk, Low anterior hairline, Hirsutism, Optic a...	OMIM:617303
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Hypertriglyceridemia, Scoliosis	OMIM:615381
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Vestibular areflexia, Astigmatism	ORPHA:886
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Alopecia, Alopecia ...	ORPHA:293978
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait di...	OMIM:616586
Rhabdoid Tumor	Cerebral palsy, Hypercalcemia, Anemia, Hemiplegia, Thrombocytopenia	ORPHA:69077
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystroph...	ORPHA:2526
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Pla...	ORPHA:1856
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherry red spot of the macul...	ORPHA:354
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opacification of t...	OMIM:612582
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Cataract, Hyperlordosis, Chorea, Abnormal circulating creatine kinase concentratio...	ORPHA:369840
Mucopolysaccharidosis Type 3	Synophrys, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, Coarse hair, Hypertoni...	ORPHA:581
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Thoracic scoliosis, Bull's eye ...	OMIM:216550
Sengers Syndrome	Cataract, Thrombocytopenia, Developmental cataract	OMIM:212350
Autosomal Recessive Spastic Paraplegia Type 23	Waddling gait, Kyphoscoliosis, Silver-gray hair, Spastic paraplegia, Multiple lentigines, Spastic...	ORPHA:101003
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Ataxia, Myoclonus, Mottled pigmentation of photoexposed areas	OMIM:560000
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia	OMIM:610333
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
Alagille Syndrome 1	Cataract, Hypertriglyceridemia, Band keratopathy, Abnormal anterior chamber morphology, Chorioret...	OMIM:118450
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Cystinosis	Corneal opacity, Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Retino...	ORPHA:213
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Chorea, Inability to walk, Optic atroph...	ORPHA:404454
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia	OMIM:598500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Cataract, Clonus, Babinski sign, Dysmetria, Developmenta...	OMIM:606721
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplastic to...	ORPHA:2930
Refsum Disease, Classic	Cataract, Ataxia, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Retinal d...	OMIM:266500
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cataract, Chorea, Hyperkinetic movements, Scoliosis, Truncal ataxia, Difficulty walking	ORPHA:369847
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Asplenia, Keratoconjunctivitis, Pigmentary retinopathy, Perifoveal ring of hy...	OMIM:240300
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:199296
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Ataxia, Babinski sign, Opto-chiasmatic atrophy, Optic atrophy, Gait ataxia, Hyperkineti...	OMIM:620089
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomotor apraxia	OMIM:612291
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Spasticity	OMIM:619517
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Sh...	ORPHA:3077
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di...	ORPHA:199343
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplen...	ORPHA:93400
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Parkinsonism with favora...	ORPHA:240071
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Cataract, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Abnormality of neutrophils, White hair, Ocular albinism, Hypertonia, Hypochromi...	ORPHA:2720
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Inability to walk, Sacral hypertrichosis, High noncerulo...	ORPHA:457351
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Abnormal hair whorl, Premature ...	ORPHA:902
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hypertriglyceridemia, Generalized hirsutism, Abnormality of the nail	ORPHA:2348
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Hyperpigmentation of the skin, Ataxia, Thrombocytopenia,...	ORPHA:699
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma...	OMIM:615980
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Microcytic anemia, Hypertrichosis, H...	ORPHA:168569
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,...	OMIM:254900
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Hypoc...	OMIM:259700
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait	OMIM:616795
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia	OMIM:617591
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Macrocytic anemia, Eosinop...	ORPHA:199299
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Numerous pigmented freckles, Astigmatism, Scoliosis, Freckling	OMIM:278760
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Gaucher Disease, Type I	Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Hypersplenism, Splenomegaly, Anemia...	OMIM:230800
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Cataract, Ataxia, Retinal pigment epithelial mottling, Babinski sign, Dysmetria...	OMIM:607459
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circ...	ORPHA:171876
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Autosomal Recessive Spastic Paraplegia Type 5A	Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Limb ataxia, Ankle clonus, Up...	ORPHA:100986
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Pigmentary retinopathy, Gai...	ORPHA:436271
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet...	ORPHA:101
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment...	OMIM:618156
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal r...	OMIM:613327
Joubert Syndrome With Ocular Defect	Ataxia, Retinal dystrophy, Highly arched eyebrow, Tremor, Retinal coloboma, Gait disturbance, Sco...	ORPHA:220493
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Ataxia, Nail pits, Reticular hyperpigmentation, Anemia, L...	OMIM:127550
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Clonus, Thrombocytopenia, Leukocyt...	OMIM:259720
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Splenomegaly, Low anterior h...	ORPHA:742
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Generalized hirsutism	ORPHA:79083
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Wilson Disease	Back pain, Splenomegaly, Clumsiness, Anemia, Kayser-Fleischer ring, Difficulty walking, Thrombocy...	ORPHA:905
Stuve-Wiedemann Syndrome 2	Scoliosis, Thrombocytopenia	OMIM:619751
Specific Granule Deficiency 2	Absent neutrophil specific granules, Hirsutism, Anemia, Fragile nails, Nail dysplasia, Neutropeni...	OMIM:617475
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Anemia, Conjunctivitis, Hypocalcemia, Neutropenia, Thromboc...	ORPHA:47
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra...	OMIM:619172
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Ataxia, Retinal dystrophy, Hyperautofluorescen...	OMIM:209900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Noonan Syndrome 12	Lymphopenia, Spinal canal stenosis, Thrombocytopenia	OMIM:618624
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Incontinentia Pigmenti	Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifida occulta, Abnormality ...	ORPHA:464
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,...	ORPHA:411511
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg...	ORPHA:247234
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Hirs...	OMIM:301056
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil...	ORPHA:95409
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign, Ankle clonus, Xanthe...	OMIM:213700
Renal Hypoplasia, Bilateral	Hyponatremia, Astigmatism, Hyperkalemia, Anemia	ORPHA:97362
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi...	OMIM:617052
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Vertebral fusion, Cataract, Block vertebrae, Short neck, Hyp...	OMIM:272460
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Irregular vert...	OMIM:222765
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia, Periodic paralysis	OMIM:613345
Immunodeficiency 46	Neutropenia, Conjunctivitis, Anemia, Intermittent thrombocytopenia	OMIM:616740
Spastic Paraplegia 9A, Autosomal Dominant	Lower limb spasticity, Resting tremor, Cataract, Hoffmann sign, Babinski sign, Spastic paraplegia...	OMIM:601162
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ...	OMIM:613839
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts...	ORPHA:182050
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Stickler Syndrome, Type I	Retinal detachment, Cataract, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous app...	OMIM:108300
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat...	OMIM:615994
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Short neck, Inability to walk, Astigmatism, Retinal coloboma, Horizontal eyebrow, Scoli...	OMIM:618571
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbumin...	ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Hyperkalemia, ...	ORPHA:361
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni...	ORPHA:77293
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A...	ORPHA:1867
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenomegaly, Loss of ...	OMIM:263700
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides, Spinal canal stenosis	OMIM:614613
Braddock-Carey Syndrome 1	Curly hair, Hyperlordosis, Spastic diplegia, Sparse hair, Thrombocytopenia	OMIM:619980
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Optic ...	ORPHA:79282
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Block vertebrae, Hemiplegia/hemiparesis,...	ORPHA:50
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Low...	OMIM:169400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Splenomegaly, Conjugated hyperbilirubinemia, Optic nerve dysplasia, E...	OMIM:614866
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hirsutism, Increased circulatin...	ORPHA:90791
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sa...	ORPHA:175
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Hemiplegia/hemiparesis	ORPHA:1496
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	OMIM:601794
Khan-Khan-Katsanis Syndrome	Sacral dimple, Highly arched eyebrow, Peters anomaly, Trichiasis, Corneal scarring, Buphthalmos, ...	OMIM:618460
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Absent platelet dense granules, Fair hair, Albinism, Splenomegaly...	OMIM:608233
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	ORPHA:363741
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Opacificati...	OMIM:214100
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy...	ORPHA:98795
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Pigmentary retinopathy, Tip-toe gait, Hypocalcemia, Frequent falls	ORPHA:746
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis, Kera...	ORPHA:536532
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Propionic Acidemia	Pancytopenia, Dystonia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia, L...	OMIM:606054
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walking, Limb dystonia, Rod...	ORPHA:572798
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr...	ORPHA:3240
Cockayne Syndrome A	Dry hair, Cataract, Ataxia, Retinal atrophy, Tremor, Splenomegaly, Retinal pigment epithelial mot...	OMIM:216400
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia	OMIM:615085
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Immunodeficiency 10	Hypoplasia of the iris, Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Ataxia-Telangiectasia	Conjunctival telangiectasia, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concentrati...	OMIM:208900
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Short neck, Splenomegaly, Kyphosis, Hepatosplen...	OMIM:309900
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes...	OMIM:224230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:614381
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Adams-Oliver Syndrome	Alopecia, Cataract, Aplastic/hypoplastic toenail, Hemiparesis, Leukopenia, Hypertonia, Absent fin...	ORPHA:974
Acute Radiation Syndrome	Cataract, Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the s...	ORPHA:454831
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:66628
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Hypertriglyceridemia, Abno...	ORPHA:79474
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Noonan Syndrome 4	Curly hair, Short neck, Sparse eyebrow, Blue irides, Scoliosis, High anterior hairline, Thrombocy...	OMIM:610733
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy...	ORPHA:71212
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Sympathetic Ophthalmia	Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin...	ORPHA:79098
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:179494
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia, Pigmentary retinopathy	OMIM:530000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Generalized hirsutism, Short neck	ORPHA:110
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Snakebite Envenomation	Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia	ORPHA:449285
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Splenomegaly, Inability to walk, Optic atrophy, Hypokalemia, ...	OMIM:617913
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Astigmatism, Incr...	ORPHA:261250
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Coarse hair, Platyspondyly, Nail dysplasia, Scoliosis, Thrombocytopenia	OMIM:612394
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Pseudo-Torch Syndrome 1	Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Spasticity, Thrombocytopenia	OMIM:251290
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany,...	ORPHA:36913
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatosplenomegaly, Clumsiness	ORPHA:309288
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Abnormal optic nerve morphology, Gait di...	ORPHA:83629
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Dysmetria, Developmental catara...	OMIM:620185
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp...	OMIM:618060
Seckel Syndrome 10	Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
Holoprosencephaly-Craniosynostosis Syndrome	Hypoplastic vertebral bodies, Abnormality of retinal pigmentation	ORPHA:2163
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Scoliosis, Vocal...	OMIM:619574
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss...	OMIM:607426
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Generalized hirsutis...	ORPHA:280365
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Increased circula...	ORPHA:3453
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil...	ORPHA:85138
Cockayne Syndrome B	Dry hair, Ataxia, Abnormal hair morphology, Splenomegaly, Tremor, Kyphosis, Optic atrophy, Develo...	OMIM:133540
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Low plasma citrulline, Optic atrophy, Gait ataxia, Pigmentary retinopathy, Hypert...	ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lai...	ORPHA:1969
Ramon Syndrome	Optic disc pallor, Kyphosis, Pigmentary retinopathy, Axenfeld anomaly, Scoliosis, Hypertrichosis	OMIM:266270
Farber Disease	Corneal opacity, Thrombocytopenia, Paraparesis, Hepatosplenomegaly, Macular degeneration, Abnorma...	ORPHA:333
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph...	ORPHA:3226
Angelman Syndrome	Keratoconus, Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atroph...	ORPHA:72
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Tremor, Synophrys, Hypoplastic vertebral bodies, Hypertonia, Sparse hair, ...	ORPHA:3455
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Aicardi-Goutieres Syndrome 5	Spasticity, Thrombocytopenia	OMIM:612952
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal circulat...	ORPHA:470
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic dy...	ORPHA:447753
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Anemia	OMIM:220110
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea, Short neck	OMIM:614230
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hyperpigmentation of the skin	ORPHA:90790
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Hypermelanotic m...	ORPHA:1775
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Ridged nail, Pancytopenia, Cataract, Split nail, Alopecia, Hyperpigmentat...	OMIM:305000
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Hepatosplenomegaly, Increased circulating chylomicron conce...	ORPHA:444490
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, I...	ORPHA:139471
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail	OMIM:610644
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Hepatosplenomegaly, Anemia, Facial par...	OMIM:259710
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia, Generalized hirsutism, Generalize...	ORPHA:79086
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Abnormality of retinal pigmentation, Papilledema, Cataract, Choroidal neovascu...	ORPHA:91500
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Xp21 Deletion Syndrome	Spasticity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Stt3B-Cdg	Optic atrophy, Thrombocytopenia	ORPHA:370924
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Elevated circulating cr...	OMIM:609015
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mogs-Cdg	Alopecia, Thoracic scoliosis, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Long eyelashes...	ORPHA:79330
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:608104
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Unsteady gait, Elevated circulating creatine kinase concentr...	OMIM:618733
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Poor motor coo...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia	OMIM:615597
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Retinopathy, Splenomegaly, Hypomagnesemia, Retinal pigmen...	OMIM:219800
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Periodic paralysis	OMIM:170400
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Alopecia totalis, Elevated circulating creatine kinase concentration, Normochromic a...	OMIM:618775
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami...	ORPHA:67036
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Spastic tetraplegia, Athetosis, Hypokalemia, Primary hyperaldosteronism, Spastici...	OMIM:615474
Joubert Syndrome	Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, S...	ORPHA:475
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Respiratory paralysis, Periodic hypokalemic paresis, Mildly elev...	ORPHA:681
Moyamoya Disease 6 With Or Without Achalasia	Hemiparesis, Thrombocytopenia	OMIM:615750
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Tularemia	Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombocytopenia	ORPHA:3392
Lathosterolosis	Abnormal thoracic spine morphology, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, ...	ORPHA:46059
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Abnormality of thrombocytes, Ocular albinis...	ORPHA:79430
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Short neck, Abnorm...	ORPHA:233
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Astigmatism, Hypercalcemia, Scoliosis, Hypertriglyceridemia	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of the skin, Ele...	OMIM:256040
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Melas	Abnormal central motor function, Ataxia, Optic atrophy, Hypertrichosis, Hemiparesis, Pigmentary r...	ORPHA:550
Ethylene Glycol Poisoning	Ataxia, Slurred speech, Hyperkalemia, Hypocalcemia, Myoclonus	ORPHA:31826
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a...	OMIM:242840
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Overlap Myositis	Elevated circulating creatine kinase concentration, Leukopenia, Tetraparesis, Difficulty walking,...	ORPHA:206572
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Spastic paraplegia, Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-sup...	ORPHA:369929
Rift Valley Fever	Back pain, Retinitis, Paralysis, Paraparesis, Retinal hemorrhage, Macular edema, Anemia, Hemipare...	ORPHA:319251
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Obesity And Hypopigmentation	Red hair	OMIM:620195
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Paralysis	ORPHA:83601
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Microcornea, Hypertonia, Abnormal toenail morpholo...	ORPHA:3380
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Clonus, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Hyponatre...	ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Sacral dimple, Corneal opacity, Chorioretinal dysplasia, Scl...	ORPHA:2556
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia	OMIM:620365
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, Th...	OMIM:614576
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Takenouchi-Kosaki Syndrome	Ataxia, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Optic a...	OMIM:616737
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Ataxia, Short neck, Conjugated hyperbilirubinemia, Spasti...	ORPHA:168577
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne...	OMIM:304790
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Cataract, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Sh...	OMIM:264090
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Tremor, Splenomegaly, ...	OMIM:615512
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Incoordination, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277380
Gaucher Disease	Pancytopenia, Corneal opacity, Ataxia, Elevated circulating C-reactive protein concentration, Tre...	ORPHA:355
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Abnormality of hair texture, Kyphosis, Vert...	ORPHA:96169
Pediatric-Onset Graves Disease	Keratitis, Splenomegaly, Tremor, Neutropenia in presence of anti-neutropil antibodies, Hyperkinet...	ORPHA:525731
Dyskeratosis Congenita, Autosomal Recessive 2	Reticulated skin pigmentation, Pancytopenia, Nail dystrophy, Thrombocytopenia	OMIM:613987
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Hyperkalemia, ...	ORPHA:168558
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Macular atrophy, Splenomegaly, Polysplenia, Anemia	OMIM:619418
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia	ORPHA:85212
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
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
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Generalized hyperpigmentation, Hyperkalemia, ...	ORPHA:289548
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Joubert Syndrome With Renal Defect	Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Scoliosis, Oculomotor apraxia, Iris colo...	ORPHA:220497
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Hypopigmentation of the skin, Hyperpigm...	ORPHA:79277
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Lig4 Syndrome	Pancytopenia, Low anterior hairline, Acute lymphoblastic leukemia, Astigmatism, Thrombocytopenia	OMIM:606593
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Hyperlipidemia, Breast aplasia...	ORPHA:90153
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypokalemia, Anemia	OMIM:611489
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina...	ORPHA:790
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Autoimmune hemolytic anemia, Hype...	OMIM:619573
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Giant platelets, Anemia, Vertebral segmentation d...	OMIM:611209
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Dubowitz Syndrome	Sparse scalp hair, Sacral dimple, Cataract, Abnormal fingernail morphology, Abnormality of neutro...	ORPHA:235
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Transaldolase Deficiency	Pancytopenia, Short neck, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Cataract, Retinal atrophy, Retinal dystrophy, Splenomegaly, Kyphosis...	ORPHA:90324
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Alopecia, Hypertonia, Thrombocytopenia	OMIM:253270
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Aplastic anemia, Short neck, Abnormal vertebral morphology, Thrombocytopenia	OMIM:300514
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Alg12-Cdg	Hyponatremia, Retinal detachment, Low posterior hairline, B lymphocytopenia, Hypoalbuminemia, Sma...	ORPHA:79324
Aicardi-Goutieres Syndrome 1	Splenomegaly, Inability to walk, Abnormality of extrapyramidal motor function, Dystonia, Spastici...	OMIM:225750
Joubert Syndrome With Hepatic Defect	Ataxia, Highly arched eyebrow, Tremor, Splenomegaly, Optic disc coloboma, Gait disturbance, Chori...	ORPHA:1454
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	OMIM:218030
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Ataxia, Babinski sign, Optic atrophy, Head tremor, Spasticity	ORPHA:314404
Smith-Kingsmore Syndrome	Curly hair, Cafe-au-lait spot, Thrombocytopenia	OMIM:616638
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Jacobsen Syndrome	Short neck, Abnormal eyelash morphology, Optic atrophy, Microcornea, Macular hypoplasia, Choriore...	OMIM:147791
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Dysdiadochokinesis, H...	OMIM:612780
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, P...	OMIM:259770
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Broad-based gait, Corneal opacity, Paralysis, Thoracolumbar kyphosis, ...	ORPHA:2072
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Alport Syndrome 1, X-Linked	Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thrombocytopenia	OMIM:301050
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation, Splenomegaly, Hyperlipidemia	ORPHA:1414
Hemorrhagic Fever-Renal Syndrome	Back pain, Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyp...	ORPHA:340
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Developmental gl...	ORPHA:124
Felty Syndrome	Generalized hyperpigmentation, Splenomegaly, Anemia, Neutropenia, Irregular hyperpigmentation, Ab...	ORPHA:47612
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Thrombocytopenia, Steatorrhea, Pers...	OMIM:260400
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hemiparesis, Hypocalcemia, Thrombocyt...	ORPHA:544482
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, Myoclonus, Scoliosis...	OMIM:301072
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hirsutism	OMIM:151660
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Abnormality of circulating cortisol level, Decreased circu...	ORPHA:320
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Myoclonus, Anemia, Elevated hepatic iron concentration	OMIM:614946
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Irregularity of vertebral bodies, Corneal opaci...	ORPHA:580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Pr...	OMIM:251260
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217093
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Short neck, Synophrys, Optic disc coloboma, Hirsutism, Op...	OMIM:122470
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Splenomegaly, Abnormal pyramidal s...	ORPHA:163746
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Breast hypoplasia	ORPHA:2235
Tyrosinemia Type 2	Tremor, Corneal opacity, Abnormality of the nail, Ataxia	ORPHA:28378
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, General...	ORPHA:744
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Hypokalemia, Biconcave vertebral bodies, Hirsutism	OMIM:219090
Prolidase Deficiency	Splenomegaly, Low posterior hairline, Anemia, Facial hirsutism, Thrombocytopenia	OMIM:170100
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Liddle Syndrome	Hypokalemia	ORPHA:526
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Recon Progeroid Syndrome	Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Keratoconjunctivitis sicca, T...	OMIM:620370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Vertebral compression fr...	ORPHA:77259
Tick-Borne Encephalitis	Speech apraxia, Back pain, Incoordination, Elevated circulating C-reactive protein concentration,...	ORPHA:297
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Fasciculations, Difficulty walking, Abnormal circulating creatine kinase co...	ORPHA:98908
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hypokalemia, Increase...	ORPHA:1501
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Hyperlipidemia, Synophrys, Scoliosis, Generalized hirsutism	ORPHA:254346
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Steatorrhea, Hyperbiliru...	OMIM:557000
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lympho...	ORPHA:508542
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Fanconi Anemia, Complementation Group C	Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Anterior wedging of T12, Anemia, ...	OMIM:227645
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole...	ORPHA:79259
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Pa...	ORPHA:79124
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Maternal Uniparental Disomy Of Chromosome 6	Rod-cone dystrophy, Thrombocytopenia	ORPHA:96181
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Catastrophic Antiphospholipid Syndrome	Chorea, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ...	ORPHA:464343
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Paronychia, Decreased serum zinc, Alopecia of scalp	OMIM:201100
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Periodic paralysis	OMIM:188580
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr...	ORPHA:404
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Primary congenital glaucoma, Reticu...	OMIM:105650
Spondyloocular Syndrome	Retinal detachment, Cataract, Posterior subcapsular cataract, Unsteady gait, Low posterior hairli...	OMIM:605822
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Spasticity, Ap...	ORPHA:2714
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spastic...	OMIM:278730
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune thrombocytopenia, Tremor, Hemiple...	ORPHA:51
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	ORPHA:84064
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Shigellosis	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Conjunctivitis, Microangiopathic he...	ORPHA:810
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Splenomegaly, Abnormal sacrum morphology, Abnormal form of th...	ORPHA:464329
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Developmental cataract, Astigmatism, ...	ORPHA:86309
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Ca...	OMIM:600901
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Hyperaldosteronism, Increase...	OMIM:607364
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, Abnormal retin...	ORPHA:2785
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Renal Tubular Acidosis Iii	Hypokalemia, Periodic paralysis	OMIM:267200
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Mercury Poisoning	Tremor, Hypokalemia, Dystonia	ORPHA:330021
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
21Q22.11Q22.12 Microdeletion Syndrome	Sacral dimple, Anemia, Hypoplastic nipples, Small nail, Nail dystrophy, Periorbital hyperpigmenta...	ORPHA:261323
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Small nail, Anemia, Neutropenia	OMIM:614520
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy...	OMIM:620072
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Hyperpigmentation...	ORPHA:90154
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutropenia, Leukemia,...	OMIM:227650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Hypertrichosis, Premature graying of hair, Hypokal...	ORPHA:769
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular vertebral endplat...	ORPHA:3042
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Fanconi Anemia, Complementation Group F	Sacral dimple, Hyperpigmentation of the skin, Anemia, Leukopenia, Cafe-au-lait spot, Thrombocytop...	OMIM:603467
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr...	ORPHA:251274
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:214700
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, Sparse hair, Mottled pigmentation	OMIM:608612
Lysinuric Protein Intolerance	Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperammonemia, Fine h...	OMIM:222700
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair	OMIM:619127
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Gaucher Disease, Perinatal Lethal	Akinesia, Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Thrombocytopenia	OMIM:608013
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Scoliosis	ORPHA:293987
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Hyperpigmentation of the skin, Hypokalemia, Hirsu...	ORPHA:90795
Prader-Willi Syndrome	Hypopigmentation of hair, Kyphosis, Poor gross motor coordination, Poor fine motor coordination, ...	OMIM:176270
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia, Ste...	OMIM:269200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Spondylolysis, Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Retinal vasculitis, Anemia	OMIM:615758
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair, Cataract, Scoliosis	OMIM:118650
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Lujo Hemorrhagic Fever	Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ...	ORPHA:319213
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Gaucher Disease, Type Ii	Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Thrombocytopenia	OMIM:230900
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Hypo...	ORPHA:231625
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa...	OMIM:615846
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Lipodystrophy, Congenital Generalized, Type 2	Splenomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Hirsutism	OMIM:269700
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Thrombocytopenia	OMIM:308230
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Jacobsen Syndrome	Cataract, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Microcornea, Scoli...	ORPHA:2308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Frontal balding, Hyperkalemia, Hypochloremia,...	ORPHA:90794
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Alopecia, Abnormal circulating fatty-acid concentration...	ORPHA:2298
Woodhouse-Sakati Syndrome	Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functio...	OMIM:241080
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Chorea, Leukopenia, Retinopathy, Thrombocytopenia	ORPHA:536
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l...	ORPHA:231632
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Hypertriglyceridemia, Hirsutism	OMIM:608594
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short neck, Abnormal hair ...	ORPHA:647
Blue Rubber Bleb Nevus	Iron deficiency anemia, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, T...	OMIM:619005
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Sclerocornea, Short neck, Abnormal eyelash morphology, Kyphos...	ORPHA:818
Familial Multiple Lipomatosis	Chorioretinitis, Hyperlipidemia	ORPHA:199276
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Fibular Hemimelia	Difficulty walking, Abnormal anterior chamber morphology, Thrombocytopenia	ORPHA:93323
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,...	ORPHA:906
22Q11.2 Deletion Syndrome	Cataract, Abnormality of thrombocytes, Short neck, Retinal arteriolar tortuosity, Splenomegaly, O...	ORPHA:567
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Osteogenesis Imperfecta	Ataxia, Corneal opacity, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal fo...	ORPHA:666
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l...	ORPHA:231580
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Thrombocytopenia, Sparse hair, Lymphopenia,...	OMIM:620005
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Primary Sjögren Syndrome	Normocytic anemia, Chorea, Leukopenia, Keratoconjunctivitis sicca, Normochromic anemia, Optic neu...	ORPHA:289390
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Thoracic scoliosis, Cataract, Hypertriglyceridemia, A...	ORPHA:64
Hardikar Syndrome	Thoracolumbar scoliosis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pigmentary retinopathy,...	OMIM:301068
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Hypopigmented skin patches, Aplasia/Hypopla...	ORPHA:84
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide...	ORPHA:189427
Nelson Syndrome	Generalized hyperpigmentation, Increased circulating cortisol level, Hypokalemia, Secondary hyper...	ORPHA:199244
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto...	ORPHA:1304
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Scoliosis, Thrombocytopenia	ORPHA:3320
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Scoliosis	ORPHA:398079
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Optic atrophy, ...	ORPHA:487796
Shwachman-Diamond Syndrome 2	Normocytic anemia, Neutropenia, Thrombocytopenia, Steatorrhea	OMIM:617941
Ivic Syndrome	Leukocytosis, Scoliosis, Thrombocytopenia	ORPHA:2307
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia, Mottled pigmentati...	OMIM:248370
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Gaucher Disease Type 3	Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Thrombocytopenia	ORPHA:77261
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Increased circulating corticosterone level, Absent pubic ha...	ORPHA:90793
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Short neck, Low posterior hairline, S...	OMIM:619004
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
African Trypanosomiasis	Papilledema, Alopecia, Abnormal central motor function, Involuntary movements, Akinesia, Paralysi...	ORPHA:3385
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short neck, Scoliosis, Stellate iris, Hypopigmentation of the skin, Hyp...	ORPHA:177907
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Abnormality of skin pigmentation, Neutropenia, Leukemia,...	OMIM:227646
Scorpion Envenomation	Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Hypokalemia, Hyp...	ORPHA:466677
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Optic ...	ORPHA:324
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Kyphosis, Chorioretinal hypopigmentation, Scoliosis, Hypopigmentation o...	ORPHA:398069
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Gitelman Syndrome	Ataxia, Paralysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Hypokalemia, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia, Lipemia retinalis	OMIM:232220
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Le...	ORPHA:50918
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hemivertebrae, Elevated serum 1...	OMIM:201750
Hellp Syndrome	Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathi...	ORPHA:244242
Roberts Syndrome	Sparse hair, Cataract, Thrombocytopenia, Short neck	ORPHA:3103
Stevens-Johnson Syndrome	Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Conjunctivitis, Anemia	ORPHA:36426
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Fuse...	OMIM:274000
Fetal And Neonatal Alloimmune Thrombocytopenia	Cerebral palsy, Neonatal alloimmune thrombocytopenia	ORPHA:853
Toxic Epidermal Necrolysis	Corneal erosion, Anemia, Conjunctivitis, Neutropenia, Thrombocytopenia	ORPHA:537
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis, Iris hypopigmentation	ORPHA:98754
Leptospirosis	Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto...	ORPHA:509
Aapoaiv Amyloidosis	Back pain, Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Ivic Syndrome	Leukocytosis, Scoliosis, Thrombocytopenia	OMIM:147750
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis, Iris hypopigmentation	ORPHA:98793
Degcags Syndrome	Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of skin pigmentation, Leukope...	OMIM:619488
Caroli Syndrome	Hypersplenism, Conjunctival icterus, Leukocytosis, Conjugated hyperbilirubinemia, Leukopenia, Hyp...	ORPHA:480520
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis, Iris hypopigmentation	ORPHA:177904
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis, Iris hypopigmentation	ORPHA:177901
Ogden Syndrome	Torticollis, Short neck, Sparse eyebrow, Fine hair, Iron deficiency anemia, Hypertonia, Long eyel...	OMIM:300855
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Aplasia/Hypoplasia of the nails	ORPHA:163979
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Sarcoidosis	Hemolytic anemia, Alopecia, Cataract, Hyperpigmentation of the skin, Eosinophilia, Hypercalcemia,...	ORPHA:797
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc...	ORPHA:160
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Hyperpigmentation of the skin, Decreased circulatin...	OMIM:202010
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia, Anemia	OMIM:619377
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
Digeorge Syndrome	Pilonidal sinus, Sclerocornea, Thrombocytopenia, Splenomegaly, Hemiparesis, Hypoplasia of the thy...	OMIM:188400
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Increased circulating cortisol level, Hypokalemia, Hirsutism	ORPHA:786
Liver Disease, Severe Congenital	Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, S...	OMIM:619991
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Bartter Syndrome Type 4	Hyponatremia, Clumsiness, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating r...	ORPHA:89938
Menkes Disease	Hypopigmentation of hair, Chorea, Hypertonia, Sparse hair, Woolly hair, Spasticity	ORPHA:565
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy...	OMIM:601678
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Woodhouse-Sakati Syndrome	Alopecia, Hyperlipidemia, Choreoathetosis, Dystonia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis	ORPHA:739
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Gitelman Syndrome	Paralysis, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Pr...	ORPHA:358
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:602522
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis...	OMIM:241200
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Proximal Renal Tubular Acidosis	Hypokalemia, Cataract, Bicarbonaturia, Band keratopathy	ORPHA:47159
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Optic nerve compression, Abnormal optic nerve morphology, Thrombocyto...	ORPHA:79078
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Vipoma	Increased circulating cortisol level, Hypokalemia, Hypercalcemia, Normochromic anemia	ORPHA:97282
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Hypokalemia, Periodic hypokalemic paresis, Tremor	ORPHA:91347
Acute Liver Failure	Incoordination, Ataxia, Slurred speech, Hyperammonemia, Thrombocytopenia	ORPHA:90062
Yellow Fever	Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, El...	ORPHA:99829
Distal Renal Tubular Acidosis	Hemolytic anemia, Hypokalemia, Paralysis	ORPHA:18
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Leprechaunism	Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Facial hypertrichosis, Hypert...	ORPHA:508
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Short neck, L...	OMIM:163950
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Scoliosis, Thrombocytopenia	OMIM:619525
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Elevated circulating creatine kinase concen...	ORPHA:565612
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Cyclic neutropenia, Hyperuricemia	OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Aromatase Deficiency	Hyperlipidemia, Generalized hirsutism	ORPHA:91
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m...	ORPHA:286
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665

Histopathology

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

There is no histopathology data for Setmar

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 Setmar.

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

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Setmar^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Setmar^{tm1a(EUCOMM)Wtsi}	PMC6459510

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Setmar^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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