Gene Summary

Name:
deleted in colorectal carcinoma
Synonyms:
C030036D22Rik,  Igdcc1

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
preweaning lethality, complete penetrance Dcctm1b(NCOM)Mfgc HOM   Early adult 0.00
increased neutrophil cell number Dcctm1b(NCOM)Mfgc HET Early adult 5.11×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (5 of 5)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Immunophenotyping

Panel B FCS file(s)

3 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Human diseases caused by Dcc 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 Dcc by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign, Morphological abnormality of the pyramidal tract OMIM:301840
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Aplasia/Hypoplasia of the cerebellar vermis, Lower limb... ORPHA:401820
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Morph... ORPHA:356
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Lissencephaly 3
Lissencephaly, Spastic tetraplegia, Pachygyria, Cerebellar vermis hypoplasia, Hypoplasia of the b... OMIM:611603
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Morphological abnormality of t... OMIM:605259
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Familial Congenital Mirror Movements
Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Morphological abnormality of the corti... ORPHA:238722
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodi... OMIM:601042
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Ataxia, Inability to walk, Cerebell... OMIM:618174
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Lissencephaly 4
Simplified gyral pattern, Hypertonia, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus ca... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Hemiparesis, Pachygyria, Cerebellar hypoplasia, Hypopla... OMIM:610031
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Spasticity, Hypoplasia of the corpus ... OMIM:614039
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Adult Krabbe Disease
Clumsiness, Hemiplegia, Somatic sensory dysfunction, Gait disturbance, Acroparesthesia, Abnormali... ORPHA:206448
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressive cerebell... OMIM:603516
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... ORPHA:401830
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Gait disturbance, Babinski sign, Leukoencephalopathy, Tremor, Tip-toe gait, Morphological abnorma... ORPHA:83629
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Morphological abnormal... OMIM:608768
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... OMIM:604213
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Babinski sign, Abnormal pons morphology, Impaired vibration sensation in ... ORPHA:171622
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... ORPHA:453521
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Respiratory distress, Polymicrogyria, Cerebellar hypoplasia, Agenesis of co... ORPHA:171703
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Thrombocythemia 2
Thrombocytosis OMIM:601977
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormality of extrapyramidal motor function, Frontal cortical... OMIM:604802
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Attention deficit hyperac... OMIM:608716
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Simplified gyral pattern, Hypoplasia of the brainstem, Inability to wal... OMIM:618492
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Parkinson-Dementia Syndrome
Parkinsonism, Rigidity, Tremor, Morphological abnormality of the pyramidal tract, Abnormal pyrami... OMIM:260540
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Morphol... OMIM:613135
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Spastic Paraplegia 2, X-Linked
Babinski sign, Degeneration of the lateral corticospinal tracts, Dysmetria, Spastic gait, Lower l... OMIM:312920
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Masa Syndrome
Spastic paraplegia, Gait disturbance, Agenesis of corpus callosum, Hemiplegia/hemiparesis ORPHA:2466
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Optic Atrophy 5
Optic atrophy OMIM:610708
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Spasticity, Abnormality of the basal ganglia... ORPHA:101029
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, He... OMIM:617542
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of t... ORPHA:300573
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum ORPHA:85334
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Global brain atrophy, Leukoencephalopathy, Abnormality of extrapyramidal moto... OMIM:236792
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Spasticity, C... OMIM:304100
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Hydrocephalus, Spasticity, Agenesis of corpus callosum OMIM:600348
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Agyria, Spasticity, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic para... OMIM:307000
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... ORPHA:94122
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic tetraplegia, Tetraplegia, Morphological abnormality of the corticospinal t... OMIM:607225
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Spasti... ORPHA:255182
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia, Inability to walk, Tetraparesis... OMIM:618276
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Distal sensory impairment, Morphological abnormality of the pyramidal tract, Spast... OMIM:256850
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, M... OMIM:615771
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level, Ascites ORPHA:284227
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Dystonia, Simplified gyral pattern, Spastic tetraplegia,... OMIM:619302
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, S... ORPHA:100989
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Inferior vermis hypoplasia, Prog... OMIM:618959
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... ORPHA:444099
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Amyotrophic Lateral Sclerosis 8
Postural tremor, Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract,... OMIM:608627
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypoplasia of the pons, Myoclonus, Microcephaly, Spasticity, Agenesis of corpus callosu... OMIM:617669
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Spastic Paraplegia 8, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, Spastic g... OMIM:603563
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypoplasia of the pons, Simplified gyral pattern, Spastic tetraplegia, Hypoplasia of th... OMIM:619301
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Death in infancy, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spastic Paraplegia 3, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... OMIM:182600
Autosomal Dominant Spastic Paraplegia Type 37
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... ORPHA:171612
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of the pyramidal tract, Microcephaly OMIM:619602
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Morphological abnormality of the pyramidal tract... OMIM:256600
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... ORPHA:171863
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia, Lethargy OMIM:613163
Masa Syndrome
Paraplegia, Shuffling gait, Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Agenesis of... OMIM:303350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Lissencephaly, Respiratory distress, Abnormal mucociliary clearance, Hypoplasia o... OMIM:619466
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100999
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... OMIM:604360
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Cirrhosis OMIM:613280
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Hypopla... ORPHA:255138
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the brainstem, Po... ORPHA:250972
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Spastic Paraplegia 7, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Dysmetria, S... OMIM:607259
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Dihydropyrimidinase Deficiency
Extrapyramidal dyskinesia, Morphological abnormality of the pyramidal tract, Abnormal cerebral wh... OMIM:222748
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Spastic Paraplegia 45, Autosomal Recessive
Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Spastic paraplegi... OMIM:613162
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum OMIM:616494
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Pro... OMIM:617862
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... OMIM:105400
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Simplified gyral pa... OMIM:616051
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Lissencephaly Type Iii And Bone Dysplasia
Microlissencephaly, Agenesis of cerebellar vermis, Hypoplasia of the brainstem, Akinesia, Agenesi... OMIM:601160
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebella... OMIM:225790
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:117210
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Impaired vibratory sensation, Morphological abnormality of the pyramid... OMIM:238970
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Hyperactivity, Progressive microcephaly, Ataxia, Hy... OMIM:613402
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hyperactivity, Hypertonia, Cerebral atrophy, Agenesis of corpus callosum, Microcepha... OMIM:274270
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... ORPHA:85179
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum, Chiari type I malformation ORPHA:459074
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Generalized dystonia, Microcephaly OMIM:619025
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Spastic tetraplegia, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral... ORPHA:166024
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy, Hyp... OMIM:617916
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... OMIM:618090
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Death in childhood OMIM:211200
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hemiplegia/hemiparesis, Absent septum pellucidum, Hydrocephalus, Spasticity, A... ORPHA:2182
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Poems Syndrome
Thrombocytosis, Ascites, Polycythemia, Lymphadenopathy, Increased circulating antibody level, Vis... ORPHA:2905
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Degeneration of the lateral corticospinal tracts, Progressive spastic paraplegia, L... ORPHA:320355
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... OMIM:218670
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Aplasia/Hypoplasia of the cerebellar vermis, Hydrocephalus, Dilation of lateral ventricles... OMIM:300864
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Corticospinal tract pallor, Cerebral atrophy OMIM:600333
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Dystonia, Opisthotonus, Choreoathetosis, Spastic tetrapa... OMIM:619653
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Autosomal Dominant Spastic Paraplegia Type 38
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... ORPHA:171617
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Optic Atrophy 6
Optic atrophy OMIM:258500
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lissencephaly, Agen... ORPHA:1528
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Glycine Encephalopathy
Hyperactivity, Myoclonus, Agenesis of corpus callosum, Lethargy OMIM:605899
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Microhydranencephaly
Athetosis, Hydranencephaly, Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Cerebel... OMIM:605013
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... OMIM:600116
Aicardi-Goutieres Syndrome 1
Deep white matter hypodensities, Dystonia, Leukoencephalopathy, Abnormality of extrapyramidal mot... OMIM:225750
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Ataxia, Agenesis of corpus callosum OMIM:250620
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Dystonia, Poor gross motor coordination, Spastic paraple... OMIM:245349
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Autosomal Dominant Spastic Paraplegia Type 12
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100993
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Spastic Paraplegia 4, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... OMIM:182601
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Optic neuritis OMIM:165200
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Fumarase Deficiency
Polycythemia, Cholestasis OMIM:606812
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Cerebellar atrophy, Apnea, Neuronal loss in the cerebral cortex, C... ORPHA:168486
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Polycythemia, Anemia ORPHA:542643
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Choreoathetosis, Episodic ataxia, Basal ganglia cysts, Cerebral atrophy, Agenesis of co... OMIM:312170
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Jaberi-Elahi Syndrome
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, ... OMIM:617988
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:616342
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hepatomegaly, Ascites, Iron deficiency anemia, Decreased circulating antibody level OMIM:226300
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Abnormality of the liver, Porta... ORPHA:309854
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Progressive microcephaly, Limb hypertonia, Cerebellar hy... OMIM:607196
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Limb hypertonia, Primary microcephaly, Cerebellar vermis hypoplasia, Hypertonia, Nonprogressive c... ORPHA:466688
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Spasticity OMIM:619548
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Abnormal corpus callosum morphology, Stereotypy, Pachygyria... ORPHA:561854
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Oculomotor apraxia, Hypoplasia of the brainstem, Inability to walk, Ataxia, Cerebellar hypoplasia... OMIM:618273
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Partial agenesis of the corpus callosum, Primary microcephaly, Cerebellar vermis hypoplasia, Atax... OMIM:616819
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Narp Syndrome
Babinski sign, Myoclonic spasms, Corticospinal tract atrophy, Progressive gait ataxia, Ataxia, Ab... ORPHA:644
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... OMIM:174900
Coach Syndrome 2
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Agenesi... OMIM:619111
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... OMIM:308240
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Spasticit... OMIM:614833
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Peripheral axonal neuropathy, Pigmentary retinopathy OMIM:619090
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Spastic Paraplegia 48, Autosomal Recessive