Gene Summary

Name:
dystrobrevin binding protein 1
Synonyms:
sdy,  Bloc1s8,  5430437B18Rik,  dysbindin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal coat/hair pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 4.28×10-14
increased leukocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 4.89×10-08
abnormal iris pigmentation Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.20×10-18
decreased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.09×10-07
increased lymphocyte cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 2.32×10-05
increased circulating phosphate level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.22×10-05
increased circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM   Early adult 1.99×10-05
impaired glucose tolerance Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 8.06×10-05
increased neutrophil cell number Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 3.10×10-12
decreased grip strength Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 7.26×10-05
increased fasting circulating glucose level Dtnbp1tm1b(EUCOMM)Hmgu HOM Early adult 6.49×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Combined SHIRPA and Dysmorphology

Images

15 Images

X-ray

XRay Images Hind Leg and Hip

15 Images

Gross Pathology and Tissue Collection

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

10 Images

Eye Morphology

Images Slit Lamp

4 Images

Histopathology

Images

4 Images

Human diseases caused by Dtnbp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dtnbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 7
Ocular albinism, Epistaxis, Albinism, Abnormal bleeding, Impaired platelet aggregation, Bruising ... OMIM:614076

The table below shows human diseases predicted to be associated to Dtnbp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Prolonged bleeding time, Giant platelets, Abnormal bleeding, T... OMIM:600208
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... OMIM:615707
Hermansky-Pudlak Syndrome 6
Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Abnormal platelet granules, Prolonged b... OMIM:614075
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Hermansky-Pudlak Syndrome 7
Ocular albinism, Epistaxis, Albinism, Abnormal bleeding, Impaired platelet aggregation, Bruising ... OMIM:614076
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of t... OMIM:619172
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Fechtner syndrome
Menorrhagia, Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage... OMIM:153640
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hermansky-Pudlak Syndrome 5
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Prolonged bleeding ti... OMIM:614074
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Glanzmann Thrombasthenia
Ecchymosis, Macroscopic hematuria, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistax... ORPHA:849
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Nephronophthisis
Anemia, Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hair, Abnormal number of den... OMIM:614072
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleedi... OMIM:155100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myh9-Related Disease
Menorrhagia, Increased mean platelet volume, Neutrophil inclusion bodies, Nephritis, Spontaneous,... ORPHA:182050
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity OMIM:300830
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Alopecia, Impaired platelet aggregation OMIM:617443
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... OMIM:601399
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thromboc... OMIM:314050
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis, Bruising susceptibility OMIM:188000
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Hermansky-Pudlak Syndrome 8
Menorrhagia, Optic disc pallor, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Epis... OMIM:614077
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Falls, Apathy, Shuffling gait, Bradykinesi... ORPHA:412066
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral ca... OMIM:300400
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Silver-gray hair, Hypopigmentation of the skin, Reduced delayed h... OMIM:607624
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Bernard-Soulier Syndrome
Macroscopic hematuria, Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein... ORPHA:274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Hypoglycemia, Cataract ORPHA:67048
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Hermansky-Pudlak Syndrome 9
Leukopenia, Ocular albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Thromb... OMIM:614171
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Hermansky-Pudlak Syndrome 1
Abnormal hair morphology, Gingival bleeding, Ocular albinism, Freckling, Epistaxis, Albinism, Mel... OMIM:203300
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Homocarnosinosis
Abnormality of skin pigmentation, Carnosinuria, Abnormality of retinal pigmentation OMIM:236130
Oliver-Mcfarlane Syndrome
Retinal degeneration, Hypoplasia of penis, Alopecia, Long eyelashes, Central heterochromia, Pigme... OMIM:275400
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Aberrant melanosome maturation, Reduced natural killer cell activit... OMIM:608233
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Immunodeficiency 8
Lymphopenia OMIM:615401
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Abnormal bleeding, Thrombocytopenia, Glomerulonephritis OMIM:314000
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Reduced natural killer cell act... OMIM:619374
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Griscelli Syndrome Type 2
Partial albinism, Neutropenia, Hyperlipidemia, Splenomegaly, Iris hypopigmentation, Pancytopenia,... ORPHA:79477
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Familial Drusen
Hypoautofluorescent macular lesion, Abnormality of retinal pigmentation, Macular atrophy, Granula... ORPHA:75376
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... OMIM:619165
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... ORPHA:401901
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614158
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell act... OMIM:619281
Tietz Albinism-Deafness Syndrome
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes OMIM:103500
Gray Platelet Syndrome
Abnormality of thrombocytes, Epistaxis, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Bruisi... ORPHA:721
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia OMIM:185050
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Reticulocytosis, Chroni... OMIM:210250
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Sea-Blue Histiocyte Disease
Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentation of the retina, Retinopathy, ... OMIM:180210
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Malaria
Thrombocytopenia, Acute kidney injury, Anemia, Retinopathy ORPHA:673
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormality of the optic nerve, Intracranial hemorrhage, Acute leukemia, Bone marro... ORPHA:3226
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Hematuria, Spontaneous, recurrent epistaxis, Cephalohe... ORPHA:98879
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, P... OMIM:603585
Griscelli Syndrome
Hypopigmented skin patches, Leukopenia, Silver-gray hair, Abnormal circulating lipid concentratio... ORPHA:381
Fanconi Anemia, Complementation Group G
Neutropenia, Leukemia, Anemia, Multiple cafe-au-lait spots, Thrombocytopenia OMIM:614082
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Hematuria, Nephrolithiasis, Macular ... ORPHA:2196
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:859
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia, Pigmentary retino... OMIM:266130
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Laurence-Moon Syndrome
Micropenis, Pigmentary retinopathy OMIM:245800
Forsythe-Wakeling Syndrome
Thrombocytopenia, Nephrotic syndrome OMIM:613606
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:613554
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Recurrent otitis media, Recurrent infections, Alopecia, Rec... OMIM:615559
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... ORPHA:3318
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... ORPHA:177910
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hypospadias, Diabetes mellitus, Cryptorchidism, Fair hair, Red hair OMIM:614613
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Acquired Partial Lipodystrophy
Lymphocytosis, Generalized hirsutism, Insulin resistance ORPHA:79087
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Sea-Blue Histiocytosis
Petechiae, Hyperpigmentation of the skin, Hypopigmentation of the skin, Splenomegaly, Retinopathy... ORPHA:158029
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Spontaneous hematomas, Abnormal bleeding, Macrothrombocytopenia OMIM:616176
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Eosinophilia ORPHA:517
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Decreased circulating antibody level, Impaired collagen-induced ... OMIM:604928
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent sin... OMIM:613101
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Bone marrow hypocellularity, Nail dysplasia, Reticulated skin pigmentation, Pancy... OMIM:613987
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Immunodeficiency 19
Lymphopenia OMIM:615617
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... OMIM:609913
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Phenylketonuria
Blue irides, Hyperphenylalaninemia, Cataract, Maternal hyperphenylalaninemia, Generalized hypopig... OMIM:261600
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritabil... ORPHA:248111
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Eosinophilia, Familial
Thrombocytopenia, Eosinophilia, Leukocytosis, Anemia OMIM:131400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy, Stage 5 chronic kidney ... ORPHA:3156
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Polycystic ovaries, Alopecia, Abnormal testis morphology, Multiple caf... ORPHA:457059
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Acquired Idiopathic Sideroblastic Anemia
Thrombocytosis, Leukocytosis, Neutropenia, Pancytopenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Long penis, Insulin-resistant diabetes mellit... OMIM:262190
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Methionine Malabsorption Syndrome
Blue irides, White hair, Positive ferric chloride test OMIM:250900
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Ocular albinism, Silver-gray hair, Abnormal dense granules, Giant neutro... OMIM:214500
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Hepatosplenomegaly, Iris hypopigmentation,... ORPHA:167
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocy... OMIM:598500
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar... ORPHA:1433
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Increased ci... OMIM:600903
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Conjunctiv... ORPHA:36913
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Absent eyebrow, Retinopathy, Sparse scalp... ORPHA:1897
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Diabetes ... ORPHA:100
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tole... OMIM:147630
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... ORPHA:324636
Hermansky-Pudlak Syndrome 4
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Abnormal platelet gra... OMIM:614073
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Bone Marrow Failure Syndrome 2
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia ORPHA:858
Klippel-Trénaunay Syndrome
Hematuria, Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Internal hemo... ORPHA:90308
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:612462
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Irregular hyperpigmentation, Pancytopenia, Thrombocytopenia OMIM:194350
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hyperpigmentation of the skin, Hypogonadotropic hypogonadism, ... OMIM:604250
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, R... ORPHA:906
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Optic atrophy OMIM:615597
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hypospadias, Hypogonadism, Diabetes mellitus, Hypocalcemia, Cryptorchidism, Hyperpho... ORPHA:280651
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Conjunctiv... ORPHA:94089
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Cognitive impairment, Vitiligo, Abnormal eyebrow morphology... ORPHA:3437
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, White forelock, ... OMIM:148820
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:103580
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Hyperpi... OMIM:606069
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, White hair, Hypochromic anemia, Iris hypopigmentation, Cataract, Abnormality of ... ORPHA:2720
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, G... OMIM:263300
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Bone marrow hypocellularity, Anemia, Acute myeloi... OMIM:619041
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Micropenis, Hypocalcemia, Cryptorchidism, Hyperphosphatemia OMIM:241410
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Hyperpigmentation of the skin, Anemia, Sple... ORPHA:75563
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thromb... ORPHA:290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612926
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat... OMIM:301000
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Anemia, Retic... ORPHA:88
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Alopecia, Autoimmune hemolytic anemia OMIM:616576
Mental Retardation, Buenos Aires Type
Blue irides, Hypospadias, Curly eyelashes, Long eyelashes, Hyperconvex thumb nails, Fair hair OMIM:249630
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:616435
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Preeclampsia
Acute kidney injury, Chronic kidney disease, Thrombocytopenia, Proteinuria, Abnormality of the ki... ORPHA:275555
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Astigmatism, Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia ORPHA:2323
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Wolfram Syndrome 1
Optic atrophy, Hydronephrosis, Megaloblastic anemia, Sideroblastic anemia, Pigmentary retinopathy... OMIM:222300
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Chron... OMIM:258360
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal tubular dysfunction, Neutropenia, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:289916
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Generalized hyperpigmentation, Aplasia/Hypoplasia ... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes mellitus, Enlarged ovaries, Fasting h... ORPHA:2298
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Persistent ble... OMIM:300367
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Hematuria, Melena, Spontaneous hematomas, Cephalo... ORPHA:853
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Nail dystrophy, Bone marrow hypocellularity, Nail dysplasia, Reticulated skin pigment... OMIM:613989
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Mental deterioration, Ataxia OMIM:615924
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocy... OMIM:611490
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Amed Syndrome, Digenic
Leukopenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Acute myeloid leu... OMIM:619151
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Thrombocytopenia, Renal hypoplasia/aplasia, Anemia ORPHA:2123
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Abnormality of the urinary system, Hematuri... ORPHA:91547
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Tufted Angioma
Hypertrichosis, Petechiae, Anemia, Purpura, Thrombocytopenia ORPHA:1063
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Thiamine-responsive megaloblastic anemia, Sideroblastic anem... OMIM:249270
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Cerebel... OMIM:243500
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Hirsutism, Insulin-resistant diabetes... OMIM:604367
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Fine hair, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic... OMIM:242900
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Frontal balding, Early balding, External genital hypoplasia, Hypogonadism, Micropeni... ORPHA:3041
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Mixed Connective Tissue Disease
Leukopenia, Alopecia, Splenomegaly, Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura... ORPHA:809
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Immunodeficiency 10
Thrombocytopenia, Nail dysplasia, Hypoplasia of the iris, Autoimmune hemolytic anemia OMIM:612783
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Optic atrophy, Splenomegaly OMIM:615085
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus, Hypogonadism, Cryptorchidism, Hyperphosphatemia OMIM:101800
Edinburgh Malformation Syndrome
Hirsutism, Brushfield spots, Generalized hirsutism, Low posterior hairline, Synophrys ORPHA:1895
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Nephrotic syndrome, Splenomegaly OMIM:615846
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, Hypoplastic nipples, Decre... ORPHA:79329
Macs Syndrome
Urethral stenosis, Alopecia, Prolonged bleeding time, Sparse and thin eyebrow, Sparse hair, Bruis... OMIM:613075
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy OMIM:520000
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, H... OMIM:613266
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Rhabdoid Tumor
Thrombocytopenia, Hematuria, Anemia, Renal neoplasm, Internal hemorrhage ORPHA:69077
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Jeune Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Renal insufficiency, Nephropathy ORPHA:474
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... ORPHA:3440
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Sparse scalp hair, Iris coloboma, Cataract, Abnormal cornea morphology ORPHA:2611
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia OMIM:127000
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Leber Congenital Amaurosis 1
Hyperthreoninuria, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig... ORPHA:3214
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly OMIM:610539
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopla... ORPHA:791
Autosomal Dominant Hypocalcemia
Alopecia, Hypomagnesemia, Irregular hyperpigmentation, Abnormality of the nail, Hypocalcemia, Abn... ORPHA:428
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Optic atrophy, Leukopenia, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:27
Leigh Syndrome With Leukodystrophy
Hypertrichosis, Optic atrophy, Anemia, Pigmentary retinopathy ORPHA:255241
X-Linked Recessive Ocular Albinism
Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Giant ... ORPHA:54
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, White eyelashes... OMIM:611584
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Aplasia of the vagina, Hypoplastic iris stroma, White eyelashes, H... OMIM:193500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Alopecia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocy... ORPHA:169154
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Retinal Cone Dystrophy 4