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Gene: Trf MGI:98821

Gene Summary

Name:

transferrin

Synonyms:

HP, Tfn

Order Alleles

IMPC Data Collections

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
increased mean corpuscular hemoglobin	Trf^em1(IMPC)J	HET	Early adult	3.75×10^-05
limb grasping	Trf^em1(IMPC)J	HET	Late adult	3.63×10^-06
increased total body fat amount	Trf^em1(IMPC)J	HET	Early adult	3.71×10^-05
fused cornea and lens	Trf^em1(IMPC)J	HET	Late adult	5.36×10^-07
abnormal retina blood vessel morphology	Trf^em1(IMPC)J	HET	Late adult	5.36×10^-07
persistence of hyaloid vascular system	Trf^em1(IMPC)J	HET	Late adult	4.90×10^-06
decreased circulating iron level	Trf^{em1(IMPC)Rbrc}	HET	Early adult	1.83×10^-05
impaired righting response	Trf^em1(IMPC)J	HET	Late adult	1.53×10^-05
iris synechia	Trf^em1(IMPC)J	HET	Late adult	5.13×10^-07
abnormal coat/hair pigmentation	Trf^em1(IMPC)J	HET	Late adult	9.09×10^-05
abnormal embryo size	Trf^em1(IMPC)J	HOM	E18.5	0.00
cataract	Trf^em1(IMPC)J	HET	Late adult	8.74×10^-06
abnormal circulating phosphate level	Trf^{em1(IMPC)Rbrc}	HET	Late adult	1.17×10^-05
pallor	Trf^em1(IMPC)J	HOM	E18.5	0.00
abnormal vitreous body morphology	Trf^em1(IMPC)J	HET	Late adult	5.36×10^-07
abnormal retina vasculature morphology	Trf^em1(IMPC)J	HET	Late adult	5.36×10^-07
abnormal optic disk morphology	Trf^em1(IMPC)J	HET	Late adult	6.95×10^-07
abnormal locomotor behavior	Trf^em1(IMPC)J	HET	Late adult	7.94×10^-05
preweaning lethality, complete penetrance	Trf^em1(IMPC)J	HOM	Early adult	0.00
abnormal mean corpuscular hemoglobin	Trf^{em1(IMPC)Rbrc}	HET	Late adult	4.92×10^-05
preweaning lethality, complete penetrance	Trf^{em1(IMPC)Rbrc}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

12 Images

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Human diseases caused by Trf 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 Trf (2 diseases)
Human diseases predicted to be associated with Trf (1429 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Atransferrinemia		Atransferrinemia, Hypochromic anemia	OMIM:209300
Congenital Atransferrinemia		Anemia	ORPHA:1195

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

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow...	OMIM:615631
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Grow...	OMIM:615234
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Atransferrinemia	Atransferrinemia, Hypochromic anemia	OMIM:209300
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Optic atrophy	OMIM:311050
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc...	OMIM:224120
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract, Optic atrophy	ORPHA:2253
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance	ORPHA:2572
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hemochromatosis, Type 2B	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr...	OMIM:613313
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt...	ORPHA:288
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Optic atrophy	OMIM:165199
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Optic atrophy	OMIM:108650
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia	OMIM:243320
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblasti...	OMIM:229100
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Hypertrophic Neuropathy And Cataract	Cataract, Distal sensory impairment	OMIM:239900
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Impaired pain sensation, Impaired distal vibration sensation, Optic atrophy, P...	OMIM:618511
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Spastic Paraplegia 43, Autosomal Recessive	Loss of ambulation, Optic atrophy, Gait disturbance, Distal sensory impairment	OMIM:615043
Ceroid Lipofuscinosis, Neuronal, 9	Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia	OMIM:609055
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Short stature, Anemia	ORPHA:1551
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,...	ORPHA:170
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Anemia	OMIM:606069
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Spastic Paraplegia 57, Autosomal Recessive	Loss of ambulation, Somatic sensory dysfunction, Optic atrophy	OMIM:615658
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia	ORPHA:51208
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Optic atrophy, Premature...	ORPHA:33445
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Cataract, Optic atrophy	OMIM:620312
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m...	OMIM:609628
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Hyperlysinemia, Type I	Hyperlysinemia, Anemia	OMIM:238700
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Gait ataxia, Fair hair, Developmental cataract	OMIM:618808
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Retinal pigment ep...	OMIM:619389
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay	ORPHA:251066
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Optic atrophy	OMIM:618572
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Dysequilibrium Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:1766
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration	ORPHA:209919
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis	OMIM:611804
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:54028
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia, Cerulean cataract	OMIM:616732
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels	OMIM:614504
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Nephronophthisis	Anemia	ORPHA:655
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:2815
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Sensory a...	OMIM:620221
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Phosphoglycerate Dehydrogenase Deficiency	Growth delay, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Distal sensory impairment	OMIM:616451
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Optic atrophy, Gait disturbance	OMIM:616859
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin...	ORPHA:79098
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Growth delay, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Congenital Atransferrinemia	Anemia	ORPHA:1195
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Oslam Syndrome	Increased mean corpuscular volume, Short stature, Abnormality of neutrophils	ORPHA:2760
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:171851
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy, Dystonia	OMIM:271930
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocyst...	OMIM:236270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Leber Hereditary Optic Neuropathy	Ataxia, Postural tremor, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity	ORPHA:104
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Hyperhomocystinemia, Megaloblastic anemia	OMIM:250940
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Ribose 5-Phosphate Isomerase Deficiency	Optic atrophy, Ataxia	OMIM:608611
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Microcytic anemia	OMIM:618852
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia	OMIM:616457
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Short stature, Hypochromic microcytic anemia	OMIM:619423
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short stature	ORPHA:2522
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Growt...	OMIM:608885
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Microcytic anemia	ORPHA:79278
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal sensory i...	OMIM:612674
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hypochromic microcytic anemia, Growth delay, Hyperalaninemia, Anemia	OMIM:619147
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal de...	OMIM:204200
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Wolcott-Rallison Syndrome	Hyponatremia, Short stature, Hyperammonemia, Growth delay, Iron deficiency anemia, Hypoalbuminemi...	ORPHA:1667
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thromb...	ORPHA:3240
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Ataxia, Cataract	ORPHA:329314
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Truncal ataxia	OMIM:611726
Vogt-Koyanagi-Harada Disease	Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ...	ORPHA:3437
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Chylomicron Retention Disease	Growth delay, Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Spinocerebellar Ataxia 7	Tremor, Chorea, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressi...	OMIM:164500
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Short stature	OMIM:607906
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Iron deficiency anemia, Decreased serum c...	OMIM:618885
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla...	OMIM:105600
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy, Ataxia, Dystonia	ORPHA:1171
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Griscelli Syndrome Type 1	Partial albinism, Ataxia, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation	ORPHA:79476
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey...	ORPHA:2885
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Intrauterine growth retardation	ORPHA:295
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthoc...	ORPHA:96180
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Alpha-Heavy Chain Disease	Growth delay, Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Iron deficiency anemia, Hypocalce...	OMIM:212750
Camos Syndrome	Optic atrophy, Ataxia	ORPHA:83472
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia	ORPHA:1186
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ...	OMIM:615035
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Impaired distal proprioception, Impaired vibration sensation in the lo...	OMIM:270800
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A...	OMIM:609033
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat...	OMIM:618372
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Impaired vibration sensation in the lower limbs, Peripheral axonal neuropathy, Optic atrophy, Dif...	ORPHA:320360
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Mcleod Syndrome	Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Acan...	OMIM:300842
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ...	OMIM:616084
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Hemochromatosis, Type 2A	Splenomegaly, Increased serum iron, Increased circulating ferritin concentration	OMIM:602390
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Intellectual Developmental Disorder, X-Linked 104	Tremor, Frontal upsweep of hair, Optic atrophy, Ataxia	OMIM:300983
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay	OMIM:612561
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Spastic gait, Hemidystonia	OMIM:619052
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Spastic gait	ORPHA:320396
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi...	OMIM:619632
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia	OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Nescav Syndrome	Inability to walk, Peripheral axonal neuropathy, Optic atrophy, Ataxia	OMIM:614255
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Isolated Sedoheptulokinase Deficiency	Severe postnatal growth retardation, Hypochromic microcytic anemia, Short stature, Anemia	ORPHA:440713
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Optic atrophy, Small nail	OMIM:619470
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia	OMIM:613561
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Conjugated hyperbiliru...	ORPHA:168577
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia	ORPHA:3156
Merrf	Optic atrophy, Ataxia	ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytosis, Hypochromi...	OMIM:259720
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Gait ataxia	OMIM:619323
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Blue irides, Hypopigmented skin pa...	OMIM:277580
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature, Thrombocytopenia	OMIM:249270
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Irida Syndrome	Decreased circulating copper concentration	ORPHA:209981
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Optic atrophy, Focal dystonia, Gait disturbance, Limb dystonia, Oromandibular dys...	ORPHA:216873
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hyperhomocystin...	ORPHA:2169
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:614296
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning, Ataxia	OMIM:618970
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Infantile Liver Failure Syndrome 1	Macrocytic anemia, Anemia	OMIM:615438
Fanconi Anemia, Complementation Group V	Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropeni...	OMIM:617243
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Rod-cone dystrophy, Alopecia of scalp	OMIM:136300
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc	OMIM:601979
Autosomal Recessive Spastic Paraplegia Type 74	Peripheral axonal neuropathy, Optic atrophy, Difficulty walking	ORPHA:468661
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Macular degeneration, Progr...	ORPHA:284289
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Chorea, Remitting, With Nystagmus And Cataract	Chorea, Cataract	OMIM:601372
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Dilated Cardiomyopathy With Ataxia	Elevated circulating glutaric acid concentration, Hypochromic microcytic anemia, Normochromic mic...	ORPHA:66634
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613265
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Growth delay, Normochromic anemia...	OMIM:614857
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy	OMIM:617830
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conducti...	ORPHA:99014
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosp...	OMIM:619750
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Inability to walk, Optic atrophy	OMIM:618768
3-Methylglutaconic Aciduria, Type Iii	Chorea, Optic atrophy, Ataxia	OMIM:258501
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia	ORPHA:510
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia	ORPHA:3151
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Hepatosplenomegaly	ORPHA:99931
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop...	ORPHA:79432
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ...	OMIM:615651
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Ataxia, Abnormal hair morphology, Optic atrophy, Coloboma, Spott...	ORPHA:324737
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia	OMIM:619425
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia	OMIM:611490
Spastic Paraplegia 75, Autosomal Recessive	Impaired distal vibration sensation, Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, S...	OMIM:616680
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebel...	OMIM:605259
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Pancreatic Colipase Deficiency	Growth delay, Megaloblastic anemia	ORPHA:309108
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Optic Atrophy 1	Pallor	OMIM:165500
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Tremor, Abnormality of macular pi...	ORPHA:97229
Cataract 11, Multiple Types	Chorea, Cataract, Developmental cataract	OMIM:610623
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Limb tremor, Dysm...	OMIM:614877
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Ataxia, Truncal titubation, Axonal degeneratio...	ORPHA:88628
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:224050
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Glycogen Storage Disease Xii	Normocytic anemia, Short stature, Elevated circulating creatine kinase concentration, Splenomegal...	OMIM:611881
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:617395
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels	OMIM:617082
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Splenomegaly, Anemia of inadequate production	OMIM:612714
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Optic atrophy, Hypermelanotic macule	OMIM:609056
Xeroderma Pigmentosum, Complementation Group G	Tremor, Cataract, Ataxia	OMIM:278780
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia	OMIM:613672
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut...	OMIM:617056
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy, Ataxia	OMIM:617207
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Impaired temperature sen...	OMIM:619686
4H Leukodystrophy	Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ...	ORPHA:289494
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia	OMIM:616435
Triple A Syndrome	Generalized hyperpigmentation, Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia	OMIM:302060
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy, Spastic gait	OMIM:613162
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Leukodystrophy, Hypomyelinating, 21	Athetosis, Optic atrophy, Ataxia, Dystonia	OMIM:619310
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short stature, Microcytic anemia	ORPHA:98791
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy, Low posterior hairline	ORPHA:3456
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Anisopoikilocytosis, Anemia	OMIM:615789
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:435934
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Agang...	ORPHA:897
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Ataxia, Optic atrophy, Retinal degeneration	OMIM:256730
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Inability to walk, Optic atrophy, Dysmetria, Dystonia	OMIM:617954
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys...	OMIM:617964
Majeed Syndrome	Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia	ORPHA:77297
Leukoencephalopathy With Vanishing White Matter 4	Unsteady gait, Optic atrophy	OMIM:620314
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developm...	OMIM:617183
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Spastic Paraplegia 2, X-Linked	Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria	OMIM:312920
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu...	OMIM:194380
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Dysmetria, Titubation, Astigmatism, Temporal optic disc pallor	ORPHA:459056
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Growth delay, Anemia, Decreased serum zinc, Decreased circulating carnitine...	ORPHA:89842
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking...	ORPHA:280234
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit...	ORPHA:309854
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor	OMIM:618688
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Leber Optic Atrophy And Dystonia	Athetosis, Optic atrophy, Leber optic atrophy, Dystonia	OMIM:500001
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro...	OMIM:535000
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Dystonia	OMIM:615338
Piebaldism	Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Synophry...	ORPHA:2884
Diabetes Mellitus, Permanent Neonatal, 1	Intrauterine growth retardation, Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:606176
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen...	ORPHA:37042
Diamond-Blackfan Anemia 11	Short stature, Anemia of inadequate production, Neutropenia	OMIM:614900
Immunodeficiency 96	Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair	ORPHA:1264
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Gait disturban...	OMIM:210000
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine growth retardation	OMIM:618947
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr...	OMIM:301074
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Wolfram-Like Syndrome	Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy	ORPHA:411590
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula...	ORPHA:101330
Acatalasemia	Microcytic anemia	ORPHA:926
Optic Atrophy 6	Optic atrophy	OMIM:258500
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Paresthes...	ORPHA:466794
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia	OMIM:255125
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Postnatal growth retardation	OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Normochromic anemia, Elevated circulating creatine kinase concen...	OMIM:618775
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia	OMIM:617810
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Ataxia, Dysmetria, Microcornea, Long eyelashes, Abnormality of peripheral nerve conduct...	ORPHA:48431
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Ataxia, Macular dystrophy, Retinopathy	ORPHA:225
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:1466
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Tremor, Inability to ...	OMIM:617988
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Myelofibrosis	Pallor, Purpura	OMIM:254450
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Dystonia, Abnormal periphe...	ORPHA:457205
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Trichohepatoenteric Syndrome 1	Short stature, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemi...	OMIM:222470
Wolfram Syndrome 1	Growth delay, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Short stature, Granulocytopenia	OMIM:606164
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal...	OMIM:609541
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Inability to walk, Optic disc pallor, Optic atrophy	OMIM:617086
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Woods Syndrome	Supernumerary nipple, Optic atrophy, Broad nail, Hypoplastic fifth toenail, Lingual dystonia, Fro...	OMIM:615236
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Infantile Cerebellar-Retinal Degeneration	Athetosis, Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614559
Cln3 Disease	Cataract, Ataxia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Shuffling gait, ...	ORPHA:228346
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Athetosis, Hypopigmentation of the skin	OMIM:257800
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:618858
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma	ORPHA:163937
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia	OMIM:264470
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Anemia	OMIM:613092
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono...	OMIM:610743
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
2Q24 Microdeletion Syndrome	Coloboma, Cataract, Abnormality iris morphology	ORPHA:1617
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Leukodystrophy, Hypomyelinating, 22	Inability to walk, Optic disc pallor, Astigmatism	OMIM:619328
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Microc...	OMIM:612073
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Optic atrophy, Retinal dysplasia, Gait disturbance	ORPHA:272
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Abno...	ORPHA:465508
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr...	ORPHA:644
Niemann-Pick Disease, Type A	Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Distal sensory impairment, Opti...	ORPHA:254886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ...	OMIM:301040
Baralle-Macken Syndrome	Cataract, Inability to walk, Dystonia, Cafe-au-lait spot, Hirsutism	OMIM:619255
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia	OMIM:613309
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia	OMIM:616204
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen...	ORPHA:411515
Hsd10 Disease	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance	ORPHA:391417
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Usher Syndrome Type 3	Cataract, Ataxia, Astigmatism, Iris hypopigmentation	ORPHA:231183
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation	OMIM:618241
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul...	OMIM:619260
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Chorea, Optic atrophy, Difficulty walking, ...	ORPHA:401768
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Diamond-Blackfan Anemia 7	Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro...	OMIM:612562
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Diabetes Mellitus, Transient Neonatal, 3	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:610582
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Short stature, Megaloblastic anemia, Hyperhomocystinemia, A...	OMIM:277380
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Orthostatic Hypotension 2	Anemia	OMIM:618182
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Optic atrophy, Microco...	OMIM:234050
Syndromic Diarrhea	Short stature, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormalit...	ORPHA:84064
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Growth delay, Elevated circulating ...	ORPHA:79284
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,...	ORPHA:216866
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Warburg Micro Syndrome 1	Optic atrophy, Developmental cataract, Microcornea, Facial hypertrichosis, Hypertrichosis	OMIM:600118
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Cataract, Choreoathetosis, Dystonia	OMIM:614932
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Ataxia	OMIM:236792
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Cataract, Impaired distal proprioception, Decreased nu...	OMIM:162400
Hemochromatosis, Type 1	Splenomegaly, Increased serum iron, Increased circulating ferritin concentration	OMIM:235200
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth retardation	ORPHA:46059
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia	OMIM:612319
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia	OMIM:611489
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Infantile Refsum Disease	Cataract, Ataxia, Facial palsy, Optic atrophy, Rod-cone dystrophy	ORPHA:772
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Progressive cerebella...	ORPHA:98755
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy	ORPHA:254343
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Iron deficiency anemia	OMIM:269200
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Retinopathy	OMIM:619422
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Inability to walk, Cataract, Optic atrophy	OMIM:617481
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait ataxia, Arm ...	OMIM:601338
Developmental And Epileptic Encephalopathy 93	Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance	OMIM:618012
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy	OMIM:300928
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypo...	ORPHA:2611
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Attenuation of retin...	OMIM:617166
Prune1-Related Neurological Syndrome	Retinopathy, Inability to walk, Cataract, Optic atrophy	ORPHA:544469
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract, Dysmetria	OMIM:619780
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Iron deficiency anemia	ORPHA:309031
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
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Intrauterine growth retardation, HbH hemoglobin, Short...	ORPHA:423479
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Cataract, Impaired vibration sensation in the lower limbs, Hand tre...	OMIM:614409
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Pulmonary Arteriovenous Malformation	Iron deficiency anemia	ORPHA:2038
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Unsteady gait, Optic atrophy, Ataxia, Dystonia	OMIM:245349
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ...	OMIM:608804
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased nerve conduction velocity, A...	ORPHA:101082
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Optic atrophy, Dystonia	OMIM:618238
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Combined Oxidative Phosphorylation Deficiency 14	Growth delay, Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Anemia, Leukopen...	ORPHA:2785
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Aplasia/Hypopl...	ORPHA:2714
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:329284
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait disturbance, Limb dys...	ORPHA:508093
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Generalized hypertrichosis, Loss of ...	ORPHA:93399
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Chorea, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopath...	OMIM:617282
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G...	ORPHA:496790
Maturity-Onset Diabetes Of The Young, Type 13	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:616329
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia	OMIM:612438
Hsd10 Mitochondrial Disease	Choreoathetosis, Optic atrophy, Retinal degeneration	OMIM:300438
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis	OMIM:617235
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy	ORPHA:2787
3-Methylglutaconic Aciduria, Type I	Athetosis, Optic atrophy, Ataxia, Dystonia	OMIM:250950
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Tremor, Inability to walk, Development...	ORPHA:99956
Deafness, Dystonia, And Cerebral Hypomyelination	Optic atrophy, Dystonia	OMIM:300475
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron	ORPHA:391372
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Dystonia	OMIM:618230
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Postural tremor, Ataxia, Head titubation, Optic atrophy, Opto-chias...	OMIM:615491
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Trichohepatoenteric Syndrome 2	Decreased serum iron	OMIM:614602
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella...	ORPHA:363429
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Peutz-Jeghers Syndrome	Iron deficiency anemia	OMIM:175200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,...	OMIM:251900
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia	OMIM:252011
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Autosomal Recessive Spastic Paraplegia Type 26	Impaired vibration sensation at ankles, Cataract, Gait disturbance, Dystonia	ORPHA:101006
Spinocerebellar Ataxia, Autosomal Recessive 28	Truncal titubation, Optic atrophy, Gait ataxia	OMIM:618800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy, Ataxia	OMIM:618248
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Growth delay, Iron deficiency anemia, Decreased seru...	ORPHA:79408
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Chorea, Optic atrophy, Impaired pro...	ORPHA:95
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Persisten...	OMIM:617052
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo...	ORPHA:894
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Postural tremor, Ataxia, Tremor, Optic atrophy, Dysmetria, Dystonia, Loss of ambulation	OMIM:607694
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves...	ORPHA:637
Kearns-Sayre Syndrome	Sideroblastic anemia, Short stature	OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia	ORPHA:100075
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Refsum Disease, Classic	Somatic sensory dysfunction, Cataract, Ataxia, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma	OMIM:613153
Sarcosinemia	Optic atrophy, Ataxia	ORPHA:3129
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Mevalonic Aciduria	Normocytic hypoplastic anemia, Short stature, Elevated circulating creatine kinase concentration,...	OMIM:610377
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Torticollis, Ataxia, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy	OMIM:618547
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Impaired distal proprioception, Tremor, Unsteady ga...	ORPHA:137898
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Spastic Paraplegia Type 7	Optic disc pallor, Somatic sensory dysfunction, Optic atrophy, Impaired vibration sensation in th...	ORPHA:99013
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Sclerosteosis	Fingernail dysplasia, Optic atrophy, Facial palsy	ORPHA:3152
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Short stature, Microcytic anemia, Severe postnatal growth retardation, Delayed puberty, Moderate ...	ORPHA:293967
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dystonia, Loss of ambulation	ORPHA:225154
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Somatic sensory dysfunction	ORPHA:1177
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Developmental And Epileptic Encephalopathy 61	Loss of ambulation, Optic atrophy	OMIM:617933
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
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Filippi Syndrome	Optic atrophy, Dystonia, Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, L...	OMIM:271245
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Gait disturbance	ORPHA:588
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Development...	ORPHA:93400
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patch...	OMIM:308300
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Ataxia, Impaired distal proprioception, Optic atrophy, Impaired vibration sensat...	ORPHA:447896
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Classic Phenylketonuria	Tremor, Hypopigmentation of hair, Cataract, Hypopigmentation of the skin	ORPHA:79254
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Chorea, Optic atrophy, Difficulty walking, Dystonia	ORPHA:79097
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation	OMIM:620089
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i...	ORPHA:139507
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Leukodystrophy, Hypomyelinating, 15	Ataxia, Optic atrophy, Athetosis, Dystonia, Loss of ambulation, Intention tremor	OMIM:617951
Leigh Syndrome	Ataxia, Optic atrophy, Pigmentary retinopathy, Dystonia, Hypertrichosis	OMIM:256000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy...	ORPHA:199299
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr...	OMIM:250250
Spastic Paraplegia 7, Autosomal Recessive	Spastic ataxia, Waddling gait, Impaired vibration sensation in the lower limbs, Optic atrophy, Dy...	OMIM:607259
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Dist...	ORPHA:101076
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Glucagonoma	Normochromic anemia, Hypercalcemia, Acanthocytosis	ORPHA:97280
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Impaired pain sensation, Rod-cone dystrophy	ORPHA:2047
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Ataxia, Optic disc pallor	OMIM:615281
Lesch-Nyhan Syndrome	Short stature, Hyperuricemia, Megaloblastic anemia	OMIM:300322
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Optic atrophy, Abnormal retinal nerve fiber layer mo...	ORPHA:1215
Achondrogenesis Type 2	Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract	ORPHA:93296
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Short stature, Elevated hemoglobin A1c	OMIM:616113
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long...	OMIM:617523
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait...	ORPHA:95433
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, Short stature, Disproportionate short-trunk short stature	ORPHA:93315
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Ataxia, Optic atrophy, Supernumerary nipple	ORPHA:1173
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Nail dysplasia, I...	ORPHA:139471
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni...	OMIM:615512
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Distal senso...	OMIM:616505
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po...	ORPHA:85194
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Xeroderma Pigmentosum, Complementation Group B	Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Fre...	OMIM:610651
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Cataract, Ataxia	ORPHA:79095
3-Methylglutaconic Aciduria, Type Ix	Choreoathetosis, Long eyelashes, Optic atrophy	OMIM:617698
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Hyperpigmentation of the skin, Ataxia, Optic atrophy, Anisocoria, Abnorm...	OMIM:231550
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula...	OMIM:614077
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking	ORPHA:529665
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Optic atrophy, Coa...	ORPHA:585
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Elliptocytosis, Anemia	OMIM:300990
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ...	ORPHA:98768
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Gitelman Syndrome	Hypomagnesemia, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Delayed puberty	ORPHA:358
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai...	OMIM:164400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Ileal Neuroendocrine Tumor	Iron deficiency anemia	ORPHA:100078
Shwachman-Diamond Syndrome 2	Normocytic anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617941
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Piebald Trait	Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh...	OMIM:172800
Isolated Atp Synthase Deficiency	Cataract, Ataxia, Optic atrophy, Dystonia, Rod-cone dystrophy	ORPHA:254913
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Optic atrop...	ORPHA:52368
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Peroxisome Biogenesis Disorder 9B	Rod-cone dystrophy, Ataxia, Cataract	OMIM:614879
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Ataxia	ORPHA:2289
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Low anterior hairlin...	OMIM:615663
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Hand tremor, Gait disturbance, Shuffling gait, Dystonia, Motor axonal neuropathy	ORPHA:289560
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia	ORPHA:1947
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Alopecia of scalp...	OMIM:615280
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance,...	ORPHA:812
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Multiple c...	ORPHA:100
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Short stature, Persistence of hemoglobin F, Anemia, Neutrop...	OMIM:260400
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Hypocalcemic seizures, Hyperphosphatem...	ORPHA:93325
Warburg Micro Syndrome 3	Cataract, Inability to walk, Optic atrophy, Low anterior hairline, Developmental cataract, Microc...	OMIM:614222
Spastic Paraplegia Type 2	Optic atrophy, Spastic gait, Ataxia	ORPHA:99015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Chorea, Optic atrophy, Dystonia	ORPHA:289916
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Adenohypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95512
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Revesz Syndrome	Ataxia, Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Exudative retinopat...	OMIM:268130
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Cataract, Corneal opacity, Ataxia	ORPHA:309288
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy	ORPHA:263516
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia	OMIM:618249
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Cach Syndrome	Cataract, Optic atrophy, Dysmetria, Limb ataxia, Optic neuritis, Truncal ataxia	ORPHA:135
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Iron deficiency anemia	ORPHA:261584
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia	OMIM:617664
Arts Syndrome	Optic atrophy, Ataxia	OMIM:301835
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o...	OMIM:105650
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Ataxia	ORPHA:401866
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma	OMIM:610125
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma	ORPHA:207
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray hair, Tremor, ...	OMIM:214500
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Adams-Oliver Syndrome 2	Alopecia, Optic atrophy, Low anterior hairline, Developmental cataract, Small nail	OMIM:614219
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea	ORPHA:70472
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Tremor, Unsteady gait, Optic atrophy, Difficulty walking, Retinal degeneration	ORPHA:442835
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroide...	ORPHA:2719
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Loss of ambulation	OMIM:607371
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A...	ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Blepharonasofacial Malformation Syndrome	Abnormal eyelash morphology, Optic atrophy, Torsion dystonia, Low posterior hairline, Sparse late...	ORPHA:1252
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Short stature, Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Intrauterine growth retardation	ORPHA:79351
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy, Long eyelashes	OMIM:617276
Panhypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95513
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Ogden Syndrome	Short stature, Postnatal growth retardation, Growth delay, Iron deficiency anemia, Hyperbilirubin...	OMIM:300855
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Facial palsy, Impaired distal proprioception, Impaired distal vibration sensation, Optic atrophy,...	OMIM:258450
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Severe short stature, Short stature, Hyperphosphatemia, Hypocalcemia,...	OMIM:127000
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Intention tr...	OMIM:614381
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,...	ORPHA:411511
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Cataract 47	Microcornea, Cataract	OMIM:612018
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Ataxia, Impaired pain sensation, Abnormal pupil morphol...	ORPHA:1764
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Pituitary Apoplexy	Hyponatremia, Normochromic anemia	ORPHA:95613
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Optic atrophy, Dysmetria	OMIM:618233
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Short stature, Growth delay, Polysplenia, Intrauterine growth retardation	OMIM:614294
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi...	OMIM:617302
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Dysmetria, Athetosis, Dystonia, Rod-cone dystrophy	OMIM:617710
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Cataract, Ataxia, Optic atrophy, Long eyelashe...	OMIM:619833
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Decreased serum zinc, Short stature	OMIM:201100
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor...	ORPHA:1493
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
H Syndrome	Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Delayed puberty, Hist...	ORPHA:168569
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Cataract, Alopecia totalis	ORPHA:1366
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Short stature, Delayed puberty, Microcytic anemia	ORPHA:2959
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp...	ORPHA:508542
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor, Thick eyebrow, Dystonia	OMIM:617762
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Progressive cerebellar ataxia, Optic atrophy, Dystonia	OMIM:618868
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Optic atrophy, Dystonia	OMIM:614739
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cold Agglutinin Disease	Pallor	ORPHA:56425
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme...	OMIM:267750
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
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem...	OMIM:619488
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Inability to walk, Astigmatism, Retinal coloboma, Horizontal eyebrow, Gait disturbance,...	OMIM:618571
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Thick hair, Tremor, Dysmetria, Pigmentary retinop...	ORPHA:502423
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Dystonia, P...	OMIM:250100
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Astigmatism, Optic atrophy, Low anterior hairline, Dystonia	OMIM:616875
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Marinesco-Sjögren Syndrome	Cataract, Optic atrophy, Ataxia	ORPHA:559
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Ataxia, Nail dysplasia, Retinopathy	ORPHA:773
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Angelman Syndrome	Keratoconus, Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atroph...	ORPHA:72
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Tremor, Optic atrophy, Gait...	OMIM:614298
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Gait imbalance, Hypopigmentation of t...	ORPHA:98794
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Ataxia, Optic atrophy, Head tremor	ORPHA:314404
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Optic atrophy, Dystonia	ORPHA:79312
Charcot-Marie-Tooth Disease Type 1E	Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Abnormal ...	ORPHA:90658
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Thick eyebrow, Fundus atrophy, Synophrys, Optic atrophy, Broad nail, Hirsutism	ORPHA:1970
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat...	ORPHA:2969
Dravet Syndrome	Pallor	ORPHA:33069
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Pelizaeus-Merzbacher Disease	Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia	ORPHA:702
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Dystonic gait, Optic atrophy, Low anterior hairline, Astigmatism, Vitiligo	ORPHA:480898
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a...	OMIM:229300
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Growth delay, Intrauterine growth retardation, Decreased serum zinc, Hepatosplenomegaly	ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 7	Ataxia, Optic atrophy, Distal sensory impairment, Facial diplegia, Facial paralysis	OMIM:613559
Incontinentia Pigmenti	Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, ...	ORPHA:464
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Ataxia, Vestibular areflexia, Astigmatism	ORPHA:886
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Ataxia, Unsteady gait, Optic atrophy, Gait disturbance, Diffuse axo...	ORPHA:35069
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Tr...	OMIM:619259
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Impaired distal vibration sensation, Cataract, Gait disturbance	OMIM:616586
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Gene...	ORPHA:2510
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Ataxia, Abnormal retinal vascular morphology, Tremor, Unst...	ORPHA:354
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Ifap Syndrome 2	Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat...	OMIM:227645
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism	OMIM:618727
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia	OMIM:256600
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea	OMIM:614225
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Oculocerebrofacial Syndrome, Kaufman Type	Absent eyebrow, Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphol...	ORPHA:2707
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Leukemia, Abnormality of neutrophils	ORPHA:33226
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Ataxia, Hypermelanotic macule, Tremor, Optic atrop...	ORPHA:90321
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract	OMIM:620185
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Ataxia, Inability to walk, Optic atrophy, Dysmetria, Astigmatism	OMIM:619576
Tay-Sachs Disease	Pallor	OMIM:272800
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Sheehan Syndrome	Hyponatremia, Normochromic anemia	ORPHA:91355
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Intrauterine growth retardation	OMIM:615190
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Optic atrophy, Ataxia, Gait ataxia	ORPHA:543470
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Generalized hypopigmentation	OMIM:617306
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:612291
Oculodentodigital Dysplasia	Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Ataxia, Op...	ORPHA:2710
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Short stature, Microcytic anemia, Leukocytosis, Intrauterine growth retardation, An...	ORPHA:99843
Waardenburg Syndrome, Type 1	Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur...	OMIM:193500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, I...	ORPHA:466768
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy	ORPHA:496756
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor	OMIM:609053
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Squalene Synthase Deficiency	Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Abnormal hemoglobin, Anemia	ORPHA:847
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Ataxia, Difficulty walking, Abnormality of central somatosensory evo...	OMIM:213700
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Hyperhomocystine...	ORPHA:79282
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Postnatal growth retardation, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc...	OMIM:617093
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence...	OMIM:240300
Pontocerebellar Hypoplasia, Type 2A	Chorea, Dystonia, Optic atrophy, Opisthotonus	OMIM:277470
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Fine hair, Premature graying of hair, Exud...	OMIM:612199
Vipoma	Normochromic anemia, Hypokalemia, Hypercalcemia	ORPHA:97282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia	OMIM:253800
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Birk-Landau-Perez Syndrome	Optic atrophy, Limb ataxia, Choreoathetosis, Long eyelashes, Difficulty walking, Dystonia	OMIM:617595
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Tremor, Optic disc pallor, Ataxia, Dysmetria	OMIM:618527
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non...	ORPHA:227990
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
De Sanctis-Cacchione Syndrome	Ataxia, Hypermelanotic macule, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Chore...	OMIM:278800
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613266
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Dr...	ORPHA:90324
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacolon, Atax...	OMIM:209900
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ...	OMIM:619539
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
American Trypanosomiasis	Pallor	ORPHA:3386
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Pearson Syndrome	Reticulocytosis, Pancytopenia, Postnatal growth retardation, Splenomegaly, Hypomagnesemia, Hypoph...	ORPHA:699
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Optic atrophy, Progressive gait ataxia, Falls, Loss of ambulation	ORPHA:329308
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe...	ORPHA:309256
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non...	ORPHA:227982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Werner Syndrome	Alopecia of scalp, Cataract, Retinal degeneration	OMIM:277700
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Letterer-Siwe Disease	Pallor	OMIM:246400
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ...	OMIM:614863
Congenital Tufting Enteropathy	Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract	ORPHA:92050
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Facial palsy, Retinal arteriolar tortuosity, Sparse eyeb...	OMIM:230740
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Elevated circulating creatine kinase concentrati...	ORPHA:2388
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensory dysfunction, Ataxi...	ORPHA:167
Obesity And Hypopigmentation	Red hair	OMIM:620195
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Intention tremor	OMIM:610217
Cockayne Syndrome	Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Lentiglobus, Retinal degenera...	ORPHA:191
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Chops Syndrome	Curly hair, Cataract, Thick hair, Synophrys, Optic atrophy, Coarse hair, Long eyelashes, Thick ey...	OMIM:616368
Biotinidase Deficiency	Conjunctivitis, Alopecia, Optic atrophy, Ataxia	OMIM:253260
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Agel Amyloidosis	Cataract, Ataxia, Facial palsy, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Lattice ...	ORPHA:85448
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Galloway-Mowat Syndrome 1	Cataract, Dystonia, Ataxia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal s...	OMIM:251300
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal...	OMIM:278730
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
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
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Short stature, Anemia	ORPHA:438213
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Halperin-Birk Syndrome	Inability to walk, Long eyelashes, Optic atrophy, Developmental cataract	OMIM:618651
Hereditary Hemorrhagic Telangiectasia	Microcytic anemia	ORPHA:774
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, Small nail	OMIM:201180
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Ataxia, Highly arched eyebrow, Optic disc coloboma, Retinal...	OMIM:213300
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Cockayne Syndrome B	Dry hair, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased...	OMIM:133540
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape	ORPHA:45358
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Cockayne Syndrome A	Dry hair, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoked po...	OMIM:216400
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Ataxia, Hypermelanotic macule, Keratitis, Optic ...	ORPHA:910
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Ataxia, Dystonia	OMIM:619167
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm...	OMIM:175780
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Sparse scalp hair, Ectopia len...	ORPHA:394
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri...	OMIM:617827
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Developmental cat...	OMIM:242840
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Dystonia, Intention ...	ORPHA:309263
Slc39A8-Cdg	Hypomanganesemia, Abnormal blood zinc concentration, Short stature, Disproportionate short-limb s...	ORPHA:468699
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph...	ORPHA:2526
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigment...	ORPHA:163746
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Optic atrophy, Ataxia, Abnormality of somatosensory ev...	ORPHA:1187
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Craniolenticulosutural Dysplasia	Brittle hair, Punctate cataract, Optic atrophy, Coarse hair, Forehead hyperpigmentation, Posterio...	OMIM:607812
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes	OMIM:615877
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Sepsis In Premature Infants	Pallor, Petechiae, Purpura	ORPHA:90051
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Difficulty w...	ORPHA:309271
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Biotinidase Deficiency	Alopecia, Ataxia, Optic neuropathy, Optic atrophy, Conjunctivitis	ORPHA:79241
Carney Complex, Type 1	Schwannoma, Pheochromocytoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin le...	OMIM:160980
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin...	OMIM:256040
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked ...	ORPHA:909
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop...	ORPHA:3322
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Distal sensory impairment, Decreased sensory nerve conduction ve...	ORPHA:320375
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Ataxia, Tremor, Unsteady gait, Optic atrophy	OMIM:614947
Dent Disease 1	Hypophosphatemia	OMIM:300009
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Ataxia, Reticulated skin pigmentat...	OMIM:305000
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Developmental cataract, Astigmatism, ...	ORPHA:86309
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Onychogryposis	OMIM:603671
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Ataxia, Tremor, Abnormal autonomic nervous system physiology	OMIM:146500
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Astigmatism	OMIM:619471
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Optic atrophy, Dysmetria, Dystonia, Intention tremor	OMIM:619708
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn...	OMIM:186580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Numerous pigmented freckles, Optic atrophy, Ataxia	ORPHA:220295
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Ataxia	OMIM:604121
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Small nail	ORPHA:250999
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Sparse hair	OMIM:619869
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Broad-based gait, Optic atrophy	OMIM:609037
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Abnormality of hair texture	ORPHA:96169
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Periphera...	ORPHA:171629
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Pig...	ORPHA:255210
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne...	OMIM:219800
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Prolactinoma	Pallor	ORPHA:2965
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi...	ORPHA:534
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Fumarase Deficiency	Pallor	OMIM:606812
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Short stature, Thrombocytopenia, Growth delay, Leukop...	ORPHA:84
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Raine Syndrome	Hypophosphatemia	OMIM:259775
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Cataract, Optic atrophy	OMIM:617913
7Q11.23 Microduplication Syndrome	Sparse anterior scalp hair, Unsteady gait, Dysmetria, Abnormal optic disc morphology, Astigmatism...	ORPHA:96121
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired ...	ORPHA:398079
Proboscis Lateralis	Abnormal eyebrow morphology, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnormal location...	ORPHA:141099
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,...	ORPHA:508498
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy	OMIM:259900
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Cataract, Tip-toe gait, Astigmatism, Hyperpigmentation of the skin	OMIM:619268
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Prader-Willi Syndrome	Hypopigmentation of hair, Impaired pain sensation, Frontal upsweep of hair, Generalized hypopigme...	OMIM:176270
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy	OMIM:604928
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Collagenoma, Familial Cutaneous	Iris atrophy, Congenital posterior occipital alopecia	OMIM:115250
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired ...	ORPHA:398069
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo...	ORPHA:98754
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphol...	ORPHA:818
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy...	ORPHA:564
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Impaired temperature sensation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypo...	ORPHA:177901
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
African Trypanosomiasis	Papilledema, Alopecia, Somatic sensory dysfunction, Akinesia, Keratitis, Tremor, Impaired proprio...	ORPHA:3385
Esophageal Atresia	Pallor	ORPHA:1199
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:304150
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple	ORPHA:397715
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Wrinkly Skin Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Short stature, High nonceruloplasm...	ORPHA:2834
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Impaired temperature sensation	ORPHA:739
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair, Chorea	ORPHA:565
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Goodpasture Syndrome	Pallor	OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

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 Trf

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 Trf.

No publications found that use IMPC mice or data for Trf.

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

MGI Allele	Allele Type	Produced
Trf^{tm43021(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Trf^em1(IMPC)J	Exon Deletion	Mice
Trf^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trf^{em1(IMPC)Rbrc}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trf MGI:98821

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

MicroCT E18.5

Eye Morphology

X-ray

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Trf mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data