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Gene: Dcc MGI:94869

Gene Summary

Name:

deleted in colorectal carcinoma

Synonyms:

C030036D22Rik, Igdcc1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Dcc^{tm1b(NCOM)Mfgc}	HOM		Early adult	0.00
increased neutrophil cell number		Dcc^{tm1b(NCOM)Mfgc}	HET		Early adult	5.17×10^-05

Download data as: TSV XLS

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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	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
placenta	Ambiguous
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

24 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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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.

Human diseases associated with Dcc (7 diseases)
Human diseases predicted to be associated with Dcc (1695 diseases)

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

Disease	Matching phenotypes	Source
Familial Congenital Mirror Movements	Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,...	ORPHA:238722
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Hemiparesis, Hydroc...	OMIM:617542
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Kallmann Syndrome	Paraplegia, Gait disturbance, Tremor, Ataxia	ORPHA:478
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

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

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus...	ORPHA:401820
Retinitis Pigmentosa 42	Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu...	OMIM:612943
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Gerstmann-Straussler-Scheinker Syndrome	Acroparesthesia, Limb myoclonus, Abnormal cerebellum morphology, Gait ataxia, Paresthesia, Abnorm...	ORPHA:356
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:614039
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr...	OMIM:605259
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Tetraparesis, Hypoplasia of the brainstem, Polymicrogyria, Hypoplas...	OMIM:610031
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal...	OMIM:615771
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Familial Congenital Mirror Movements	Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,...	ORPHA:238722
Adult Krabbe Disease	Broad-based gait, Spasticity, Tetraparesis, Impaired tactile sensation, Abnormal pyramidal tract ...	ORPHA:206448
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos...	ORPHA:401830
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Leukoencephalopathy, Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Tremor, Hypoplasia of th...	ORPHA:83629
Dystonia 9	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Abnormal pyramidal tra...	OMIM:601042
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Abnormal pyramid...	OMIM:608768
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D...	OMIM:604213
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary...	ORPHA:171703
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Lissencephaly 3	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corp...	OMIM:611603
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Spastic Paraplegia 2, X-Linked	Spastic paraplegia, Abnormal cerebellum morphology, Dysmetria, Loss of ambulation, Babinski sign,...	OMIM:312920
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory...	OMIM:603516
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Lissencephaly 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sign, Colpocephaly, Primary microcep...	OMIM:614019
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
L-2-Hydroxyglutaric Aciduria	Leukoencephalopathy, Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal moto...	OMIM:236792
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Babinski sign,...	ORPHA:453521
Huntington Disease-Like 3	Spasticity, Chorea, Abnormality of extrapyramidal motor function, Caudate atrophy, Abnormal pyram...	OMIM:604802
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Parkinson-Dementia Syndrome	Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Abnormal pyramidal tract morphology	OMIM:260540
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Spasticity, Cerebral atrophy, Hypoplasia of the brainstem, Inability to walk, Absent septum pellu...	OMIM:618492
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis	OMIM:604416
Masa Syndrome	Spastic paraplegia, Gait disturbance, Hemiplegia/hemiparesis, Agenesis of corpus callosum	ORPHA:2466
Isolated Corpus Callosum Agenesis	Poor coordination, Agenesis of corpus callosum	ORPHA:200
Dystonia 16	Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Gait ...	OMIM:612067
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Sub-Cortical Nodular Heterotopia	Spasticity, Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morpholog...	ORPHA:101029
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Hydrocephalus, Congenital, X-Linked	Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi...	OMIM:307000
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy	OMIM:620569
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Lissencephaly, X-Linked, 1	Spasticity, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Lissencephaly	OMIM:300067
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Spastic Paralysis, Infantile-Onset Ascending	Spastic paraplegia, Abnormal corticospinal tract morphology, Abnormal lower motor neuron morpholo...	OMIM:607225
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autosomal Dominant Spastic Paraplegia Type 8	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:100989
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Tetraparesis, Periventricular cysts, Abnor...	ORPHA:255182
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib...	ORPHA:444099
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl...	ORPHA:300573
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Hemiparesis, Hydroc...	OMIM:617542
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar...	OMIM:608716
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Lower ...	OMIM:616948
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P...	OMIM:616394
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri...	OMIM:619742
Autosomal Dominant Spastic Paraplegia Type 37	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171612
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer...	ORPHA:157794
Autosomal Dominant Spastic Paraplegia Type 42	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Degeneration of ...	ORPHA:171863
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Paraplegia, Hypoplasia of th...	OMIM:182600
Developmental And Epileptic Encephalopathy 88	Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Hyperton...	OMIM:618959
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Loss of ambulation, Abnormal pyra...	OMIM:608627
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, H...	OMIM:619302
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Microcephaly 17, Primary, Autosomal Recessive	Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ca...	OMIM:617090
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Ventriculomegaly And Arthrogryposis	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:619501
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ...	OMIM:616053
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ...	OMIM:604360
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Spastic Paraplegia 7, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb hypertonia, Lower l...	OMIM:607259
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent falls, Simplified...	OMIM:616540
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Autosomal Dominant Spastic Paraplegia Type 19	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:100999
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Microcephaly, Polymicrogyria	OMIM:619602
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Retinopathy	OMIM:610951
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Masa Syndrome	Spastic paraplegia, Shuffling gait, Paraplegia, Agenesis of corpus callosum, Microcephaly, Lower ...	OMIM:303350
Spastic Paraplegia 8, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Degeneration of the lateral ...	OMIM:603563
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Inability to walk, Periventricular leukomalacia, Appendicular spasticity, Age...	OMIM:618324
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Abnormal pyramidal sign, Abnormal pyramidal tract morpholog...	OMIM:256600
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po...	OMIM:618276
Abcd Syndrome	Polycythemia	OMIM:600501
Myasthenic Syndrome, Congenital, 23, Presynaptic	Frequent falls, Agenesis of corpus callosum	OMIM:618197
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo...	ORPHA:250972
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Abnormal basal ganglia morphology, C...	OMIM:607483
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cysts, Periventricul...	ORPHA:255138
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta...	ORPHA:247798
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Lateral ventricle dilatation, Abnormal cerebellum morphology, Distal sensory ...	OMIM:256850
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Hypermanganesemia With Dystonia 1	Hepatomegaly, Cirrhosis, Polycythemia	OMIM:613280
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Ataxia	OMIM:551500
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Atrophy/Degeneration affect...	OMIM:620200
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Amyotrophic Lateral Sclerosis 1	Spasticity, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculations, Degeneration o...	OMIM:105400
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda...	OMIM:620317
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the corpus callosum, Cerebellar ...	OMIM:304100
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Pontocerebellar Hypoplasia, Type 11	Spasticity, Broad-based gait, Hypoplasia of the pons, Difficulty walking, Inability to walk, Limb...	OMIM:617695
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy	OMIM:619389
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness	OMIM:616389
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity...	OMIM:618286
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Glycine Encephalopathy 1	Death in infancy, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, ...	OMIM:605899
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ...	ORPHA:423275
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ...	ORPHA:284332
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Spasticity, Optic nerve hypoplasia, Dysgenesis of the basal ganglia...	ORPHA:171680
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad...	ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Craniotelencephalic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce...	OMIM:218670
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Autosomal Dominant Spastic Paraplegia Type 41	Spastic gait, Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Progressiv...	ORPHA:320355
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal...	ORPHA:1528
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Autosomal Dominant Spastic Paraplegia Type 38	Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ...	ORPHA:171617
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus ...	ORPHA:166024
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Spastic Paraplegia 45, Autosomal Recessive	Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,...	OMIM:613162
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemi...	OMIM:226300
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Retinitis Pigmentosa 26	Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:608380
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Cerebrooculofacioskeletal Syndrome 3	Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum	OMIM:616570
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis ...	OMIM:615095
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc...	ORPHA:2182
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Pe...	OMIM:248900
Band Heterotopia	Spasticity, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocepha...	OMIM:600348
Autosomal Dominant Spastic Paraplegia Type 12	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:100993
Microcephaly 16, Primary, Autosomal Recessive	Spasticity, Agenesis of corpus callosum, Primary microcephaly, Spastic tetraplegia, Simplified gy...	OMIM:616681
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Neuro...	ORPHA:275872
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe...	OMIM:613153
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Spastic Paraplegia 4, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Paraplegia, Degeneration of ...	OMIM:182601
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Periventricular white ma...	OMIM:613647
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619466
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Aicardi-Goutieres Syndrome 1	Leukoencephalopathy, Spasticity, Cerebral atrophy, Inability to walk, Basal ganglia calcification...	OMIM:225750
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Joubert Syndrome 30	Cerebellar atrophy, Polymicrogyria, Apnea, Agenesis of corpus callosum, Tachypnea, Molar tooth si...	OMIM:617622
Narp Syndrome	Ataxia, Cerebral cortical atrophy, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Cort...	ORPHA:644
Livedoid Vasculopathy	Anemia, Pancytopenia, Leukocytosis, Polycythemia	ORPHA:542643
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum	ORPHA:85179
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ...	OMIM:243150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly...	ORPHA:309854
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Partial agenesis of the corpus callosum, Dysphagia	OMIM:619025
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:605013
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Tetraplegia, Hypertonia	OMIM:274270
Optic Atrophy 14	Optic disc pallor	OMIM:620550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly...	OMIM:616171
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, Agenesis of corpus callosum	OMIM:619548
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Spastic paraplegia, Partial agenesis of the corpus callosum, Microcephaly, Ataxia, Unsteady gait,...	OMIM:245349
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:613163
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neopla...	OMIM:174900
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Inability to walk, Partial agenesis of the corpus callosum, Opisthotonus, Parkinsonis...	OMIM:619653
Oliver-Mcfarlane Syndrome	Peripheral axonal neuropathy, Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili...	OMIM:226990
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Limb hypertonia, Primary...	ORPHA:466688
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level	ORPHA:37748
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor, Agenesis of corpus callosum	OMIM:231950
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:619090
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Oculomotor apraxia, Hydrocephalus, Mol...	OMIM:619111
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Spasticity, Impaired vibratory sensation, Cerebellar atrophy, Parie...	ORPHA:98
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Foxg1 Syndrome	Abnormal corpus callosum morphology, Spasticity, Difficulty walking, Inability to walk, Myoclonus...	ORPHA:561854
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Opisthot...	OMIM:207950
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Death in childhood, Death in infancy, Agenesis of corpus callosum, Mic...	OMIM:618766
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P...	OMIM:616819
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Joubert Syndrome 25	Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia	OMIM:616781
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu...	ORPHA:33355
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia o...	ORPHA:370959
Delpire-Mcneill Syndrome	Cortical dysplasia, Spasticity, Hypertonia, Agenesis of corpus callosum	OMIM:619083
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Spasticity, Agenesis of corpus callosum, Microcephaly, Tetraplegia	ORPHA:2508
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas	OMIM:193300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Inability...	ORPHA:79243
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Agenesis of corpus callosum, Caudate atrophy, Spastic tetraplegia, Choreoathetosis	OMIM:618238
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia	OMIM:619751
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Dihydropyrimidinase Deficiency	Microcephaly, Abnormal pyramidal sign, Abnormal cerebral white matter morphology, Abnormal pyrami...	OMIM:222748
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus ca...	OMIM:614833
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Spinocerebellar Ataxia 29	Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C...	OMIM:117360
Lissencephaly 6 With Microcephaly	Spasticity, Cerebellar atrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, ...	OMIM:616212
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hypoplasia of the brainstem, Polymicrogyria, Akinesia, Agenesis of corpus callos...	OMIM:225790
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Neonatal death, Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephal...	OMIM:616342
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, Cerebral calcification, Hypoplasia of the corpus callos...	ORPHA:89844
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Microcephaly, ...	OMIM:618736
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Myoclonus, Cerebellar hypoplasia, Limb hypertonia, Primary microcep...	OMIM:607196
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Cerebral hypoplasia, Reduced cerebral white matter volume, Respiratory distress, Hypoplasia of th...	OMIM:617977
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Truncal ataxia	OMIM:250620
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:600118
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade...	OMIM:603909
Fumarase Deficiency	Ascites, Intrahepatic cholestasis, Polycythemia	OMIM:606812
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebral hypoplasia, Cerebellar atrophy, Neuronal loss in the cerebral cortex, Agenes...	ORPHA:168486
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Death in childhood, Abnormal dentate nucleus morphology, Microcepha...	OMIM:619517
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Interstitial Lung And Liver Disease	Hepatic fibrosis, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytosis, Anemia	OMIM:615486
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ...	ORPHA:229717
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Microcephaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum	ORPHA:1496
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia	ORPHA:108
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Thrombocytosis	ORPHA:134
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s...	OMIM:616204
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal medulla oblongata morphology, Incoordination, Babinski sig...	OMIM:601992
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Spinocerebellar Ataxia Type 17	Blepharospasm, Ataxia, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, P...	ORPHA:98759
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sig...	OMIM:620316
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, Thrombocytosis, Anemia...	ORPHA:20
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Spasticity, Hypoplasia of the pons, Hypoplasia of the optic tract, Sec...	ORPHA:500144
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Perching Syndrome	Respiratory distress, Dysphagia	OMIM:617055
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ...	OMIM:600224
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Leukoencephalopathy, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventricle, Pontocerebel...	OMIM:620428
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea, Apnea	OMIM:616490
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Autosomal Recessive Primary Microcephaly	Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum	ORPHA:2512
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Basal ganglia ...	OMIM:312170
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea	ORPHA:141152
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Acroparesthesia, Limb myoclonus, Polymicrogyria, Occipital encephalocel...	ORPHA:101030
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum,...	ORPHA:220497
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Spasticity, Abnormal cortical gyration, Upper limb hypertonia, Hypo...	ORPHA:2524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Hypoplasia of the pons, Myoclonus, Appendicular spasticity, Agenesis o...	OMIM:617669
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Meckel Syndrome 13	Occipital encephalocele, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia	OMIM:617562
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega...	OMIM:616050
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Fg Syndrome 3	Chiari type I malformation, Hyperactivity, Death in infancy, Agenesis of corpus callosum	OMIM:300406
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, D...	OMIM:222470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Holoprosencephaly, Hypoplasia of the brainstem, Type II lissencephaly, Polymicrogyria, Encephaloc...	OMIM:253800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop...	ORPHA:816
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Hepat...	ORPHA:1304
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Leukoencephalopathy, Spasticity, Hemiplegia, Cerebral calcification, Tremor, Abnormality of extra...	OMIM:612199
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Joubert Syndrome 18	Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp...	OMIM:614815
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,...	ORPHA:98772
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog...	ORPHA:300570
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Abnormal corpus striatum morphology	ORPHA:238329
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Orbital encephalocele, Dandy-Walker malformation, Agenesis of ...	OMIM:164180
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Spastic Ataxia 3, Autosomal Recessive	Leukoencephalopathy, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis...	OMIM:611390
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:615249
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves...	OMIM:609033
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Protracted diarrhea, Mechanical ileus, Constipation, Ileal adenocarc...	ORPHA:100079
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Cerebellar hypoplasia, Apnea, Neonatal death	OMIM:615228
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Microcephaly, Spasticity, Agenesis of corpus callosum	OMIM:615286
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Houge-Janssens Syndrome 2	Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, M...	OMIM:616362
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor...	ORPHA:86822
Von Hippel-Lindau Disease	Pancreatic cysts, Pancreatic islet cell adenoma, Polycythemia, Neoplasm of the pancreas	ORPHA:892
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Retinoschisis, Optic neuropathy, Chorioretinal atrophy	OMIM:615651
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym...	ORPHA:397596
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin...	OMIM:616602
Gaucher Disease Type 2	Respiratory distress, Dysphagia, Abnormal pattern of respiration	ORPHA:77260
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A...	ORPHA:1451
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:604804
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum,...	ORPHA:220493
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Secondary microcephaly, Death in infancy, Cerebellar hypoplasia, Cerebral w...	OMIM:615042
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Spasticity, Difficulty walking, Cerebral calcification, Rigidity, Cerebellar hypoplasia, Chiari t...	OMIM:618476
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Spasticity, Global brain atrophy, Hypoplasia of the brainstem, Difficulty walking, Inability to w...	ORPHA:481152
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Decreased circulating IgG level, Decreased circulating IgA level, Hepatic steat...	OMIM:212065
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Microcephaly, Dyspnea	ORPHA:1832
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum	OMIM:300934
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ...	ORPHA:44890
Succinic Acidemia	Respiratory distress	OMIM:600335
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:218350
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Cerebellar atrophy, Death in childhood	OMIM:615597
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Spl...	ORPHA:116
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Spasticity, Microcephaly, Hypertonia	OMIM:618346
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618577
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:617914
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618603
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Gastrointestinal Stromal Tumor	Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia	OMIM:606764
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Ogden Syndrome	Polycythemia, Microvesicular hepatic steatosis, Cardiomegaly, Iron deficiency anemia, Thrombocyto...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Limb hypertonia, Spina b...	ORPHA:99742
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu...	OMIM:620189
Pleural Mesothelioma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:50251
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Polymicrogyria	OMIM:616974
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424016
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Immunodeficiency 95	Respiratory distress	OMIM:619773
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Prolidase Deficiency	Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Hepatomegaly, Th...	OMIM:170100
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity	ORPHA:440727
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus...	ORPHA:990
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal...	ORPHA:100996
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Dysphagia	OMIM:614399
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Kawasaki Disease	Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis, Jaundice	ORPHA:2331
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Reduced cerebral white matter volume, Secondary microcephaly, Myoclonus, A...	OMIM:620352
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:300887
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Inability to walk, Tremor, Agenesis of corpus callosum, Limb ...	OMIM:218000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m...	ORPHA:5
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ...	OMIM:620156
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Alobar holoprosencephaly, Agenesis of corpus callosum	OMIM:615433
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Lissencephaly, X-Linked, 2	Pachygyria, Spasticity, Lissencephaly, Agenesis of corpus callosum	OMIM:300215
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells	OMIM:256550
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T...	OMIM:617591
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia	OMIM:619320
Anal Fistula	Leukocytosis	ORPHA:228113
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum	OMIM:614583
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Cerebellar atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, M...	OMIM:616239
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Roifman Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic paraplegia, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Limb hypertonia...	OMIM:617296
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Tremor, Agenesis of corpus callosum	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Agenesis...	OMIM:613150
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, ...	ORPHA:540
Birk-Landau-Perez Syndrome	Difficulty walking, Limb ataxia, Agenesis of corpus callosum, Microcephaly, Oculomotor apraxia, L...	OMIM:617595
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, He...	OMIM:617388
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia	ORPHA:60032
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Ring Chromosome 22 Syndrome	Impaired pain sensation, Gait ataxia, Absent septum pellucidum, Agenesis of corpus callosum, Micr...	ORPHA:1446
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar hypoplas...	OMIM:214150
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:600376
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Purine Nucleoside Phosphorylase Deficiency	Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B cell physiology, A...	OMIM:613179
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Cerebellar atrophy, Frontotemporal cerebral atrophy	ORPHA:79097
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice	ORPHA:91547
Ritscher-Schinzel Syndrome 4	Chorea, Agenesis of corpus callosum, Cerebellar hypoplasia, Ataxia, Athetosis, Dandy-Walker malfo...	OMIM:619435
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Neuronal loss in basal ganglia, Cerebellar atrophy, Focal cortical dysplasia, Cerebral atrophy, R...	OMIM:604377
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Leigh Syndrome	Spasticity, Neuronal loss in basal ganglia, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:506
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Greig Cephalopolysyndactyly Syndrome	Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:175700
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:619074
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Stt3B-Cdg	Respiratory distress, Microcephaly, Cerebellar atrophy	ORPHA:370924
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Meckel Syndrome 12	Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agenesis o...	OMIM:616258
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anem...	OMIM:620565
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Microcephaly, Spasticity, Agenesis of corpus callosum	ORPHA:452
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Pericallosal lipoma, Agenesis of corpus c...	OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Unsteady gait, Gait ataxia, Hypoplasia of the corpus cal...	OMIM:618109
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Leukocytosis, Ascites	ORPHA:2070
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly	OMIM:230650
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Hypoplasia of the brainstem, Type II lissencephaly, Polymicrogyria, Death in child...	OMIM:614643
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal periventricular white matter morphology, Abnormal anterior horn ce...	ORPHA:1145
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi...	OMIM:232800
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
6Q25 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:251056
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:2930
Laryngomalacia	Respiratory distress	OMIM:150280
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co...	OMIM:613244
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Dysphagia	OMIM:613561
Muckle-Wells Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:102700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618142
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Syringomyelia, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:613735
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula...	ORPHA:1493
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Spasticity, Cerebral atrophy, Hypoplasia of the corpus callosum, Ag...	OMIM:615802
Agnathia-Otocephaly Complex	Respiratory distress, Holoprosencephaly, Agenesis of corpus callosum	OMIM:202650
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Alexander Disease	Spasticity, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Abnormal pyramid...	ORPHA:58
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosu...	ORPHA:468631
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal...	ORPHA:88628
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Juvenile Glaucoma	Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu...	ORPHA:98977
Malaria	Respiratory distress	ORPHA:673
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Spasticity, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Communic...	OMIM:615287
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Ret...	OMIM:618278
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia	OMIM:187300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly, Restle...	ORPHA:544503
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:613489
Walker-Warburg Syndrome	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of ...	ORPHA:899
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Head-banging, Cerebellar atrophy, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corp...	OMIM:619103
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha...	OMIM:613001
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Nipah Virus Disease	Respiratory distress, Anorexia	ORPHA:99825
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar malformat...	OMIM:236670
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Agenesis of corpus callosum,...	OMIM:619244
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ...	OMIM:608233
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly	OMIM:300842
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L...	OMIM:260920
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha...	ORPHA:1572
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum	ORPHA:228390
Microcephaly 13, Primary, Autosomal Recessive	Cerebellar hypoplasia, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:616051
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Agenesis of corpus callosum,...	OMIM:619720
Congenital Enterovirus Infection	Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ...	ORPHA:292
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Agenesis of corpus callos...	OMIM:618651
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis	ORPHA:676
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Dysphagia	ORPHA:254875
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Microcepha...	OMIM:619272
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Myotonic Dystrophy 1	Respiratory distress, Dysphagia, Obsessive-compulsive trait, Cerebral atrophy	OMIM:160900
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Ascites	ORPHA:834
Temtamy Syndrome	Thick corpus callosum, Hypertonia, Agenesis of corpus callosum	OMIM:218340
Septo-Optic Dysplasia Spectrum	Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Aplasia/Hypoplasia...	ORPHA:3157
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Spastic tetraparesis, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:614924
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Brain-Lung-Thyroid Syndrome	Involuntary movements, Falls, Cavum septum pellucidum, Incoordination, Chorea, Myoclonus, Intenti...	ORPHA:209905
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Agenesis of corpus callosum, Apraxia, Oculomotor apraxia, Partial agenes...	OMIM:620250
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Microcephaly, Spastic tetraplegia, Tetraplegia, Agenesis of corpus callosum	OMIM:300004
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation	ORPHA:585
Smith-Magenis Syndrome	Corticospinal tract hypoplasia, Impaired pain sensation, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:819
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis...	OMIM:620073
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa...	ORPHA:97286
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden...	OMIM:615895
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Microcephaly, Dyspnea	ORPHA:86812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan...	OMIM:614576
Fanconi Anemia, Complementation Group I	Chiari malformation, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpoce...	OMIM:609053
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Braddock-Carey Syndrome 1	Microcephaly, Agenesis of corpus callosum, Spastic diplegia	OMIM:619980
Immunodeficiency 49	Eosinophilia, Reduced cerebral white matter volume, Spastic tetraplegia, Agenesis of corpus callosum	OMIM:617237
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Hypoplasia of olfactory tract, Encephalocele, Agenesis of corpus ca...	ORPHA:314621
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Neurogenic bladder	OMIM:222300
Adrenomyeloneuropathy	Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Babinski sign, Spastic ga...	ORPHA:139399
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Splenomegaly, Thrombocytopenia	OMIM:251290
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum, ...	OMIM:248700
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropeni...	OMIM:617303
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:139471
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n...	OMIM:274150
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Abnormal cerebellum morphology, Death in childho...	OMIM:211530
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communicating hydrocephal...	OMIM:615219
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Hepatomegaly, Lymphaden...	ORPHA:33226
Japanese Encephalitis	Abnormal midbrain morphology, Abnormality of the internal capsule, Abnormal pattern of respiratio...	ORPHA:79139
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Motor stereotypy, Compulsive behaviors	OMIM:613174
Radio-Tartaglia Syndrome	Gait imbalance, Tremor, Agenesis of corpus callosum, Microcephaly, Ataxia	OMIM:619312
Alfadhel Syndrome	Aggressive behavior, Nasal flaring, Microcephaly	OMIM:620655
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly, Motor stereotypy, Agitation	ORPHA:927
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Hydrolethalus	Hydrocephalus, Anencephaly, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2189
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu...	OMIM:251880
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Acute Lung Injury	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:178320
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Secondary microcephaly, Pontocerebellar atrophy	OMIM:608799
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:617360
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling, Decreased nerve conduction velocity	OMIM:610651
Acromelic Frontonasal Dysplasia	Hypoplasia of the olfactory bulb, Encephalocele, Agenesis of corpus callosum, Meningocele, Retroc...	ORPHA:1827
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Isolated Exencephaly	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice	ORPHA:90051
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Anorexia	ORPHA:330021
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Abnormal pattern of respiration, Increased caudate lactate level, Periv...	ORPHA:3008
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Dysphagia	OMIM:620375
Typhoid	Hepatomegaly, Splenomegaly	ORPHA:99745
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Hypoplasia of the pons, Frequent temper tantrums, Agenesis of corpus cal...	OMIM:619512
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior, Tachypnea, Anorexia	OMIM:237310
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:142
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Cerebellar vermis hypoplasia, Respiratory distress, Hypoplasia of the corpus callosum, Attention ...	OMIM:619383
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Intellectual Disability-Strabismus Syndrome	Spasticity, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gait di...	ORPHA:363528
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly	ORPHA:261304
Moebius Syndrome	Respiratory distress, Dysphagia, Hypoplasia of the brainstem	OMIM:157900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Hemochromatosis, Type 1	Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma	OMIM:235200
Isolated Atp Synthase Deficiency	Respiratory distress, Cerebral cortical atrophy, Cerebellar atrophy, Microcephaly	ORPHA:254913
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Weiss-Kruszka Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:618619
Desmosterolosis	Spasticity, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of cor...	ORPHA:35107
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar ...	OMIM:301056
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Respiratory distress, Probst bundles, Agenesis of corpus callosum, ...	OMIM:612863
Curry-Jones Syndrome	Polymicrogyria, Hemimegalencephaly, Agenesis of corpus callosum, Chiari type I malformation, Lipo...	OMIM:601707
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec...	OMIM:612301
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ...	OMIM:216550
Emanuel Syndrome	Chiari malformation, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Abnormal cerebr...	ORPHA:96170
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an...	ORPHA:51636
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Anorexia	ORPHA:79242
Baraitser-Winter Syndrome 1	Pachygyria, Microcephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:243310
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cholestasis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:615630
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ...	OMIM:613385
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Pediatric-Onset Graves Disease	Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegal...	ORPHA:525731
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy...	OMIM:115310
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp...	ORPHA:157
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly	OMIM:231005
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Holoprosencephaly 14	Alobar holoprosencephaly, Cerebellar atrophy, Absent septum pellucidum, Microcephaly, Hydrocephal...	OMIM:619895
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Stromme Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, H...	OMIM:243605
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis	ORPHA:91138
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mic...	OMIM:616449
Trisomy 1Q	Cerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:261344
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Hypoplasia of the corpus callosum, Neonatal death, Central apnea, Hydroceph...	OMIM:616482
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly	OMIM:252900
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Splenomegaly	OMIM:239200
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Ce...	ORPHA:329178
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Motor stereotypy, Agenesis of corpus callosum	ORPHA:261144
Episodic Ataxia Type 1	Respiratory distress, Cerebellar atrophy	ORPHA:37612
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Cerebral calcification, Abse...	ORPHA:2396
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Polymicrogyria, Partial agenesis of the corpus callosum, Thin corpu...	OMIM:619775
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Global brain atrophy, Hypopnea, Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Apnea...	OMIM:618426
Nizon-Isidor Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum,...	OMIM:618872
Intellectual Developmental Disorder, Autosomal Dominant 22	Bruxism, Agenesis of corpus callosum, Microcephaly, Stereotypical hand wringing	OMIM:612337
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Pigmentary retinopathy	OMIM:613154
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ...	OMIM:264480
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Neoplasm of the gallbladder, Ulcera...	ORPHA:171
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Sea-blue histiocytosis	OMIM:230600
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
1Q44 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:238769
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Microcephaly, Cerebral atrophy	OMIM:250940
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Ab...	ORPHA:264580
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Mosaic Variegated Aneuploidy Syndrome 1	Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Tetraplegi...	OMIM:257300
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Impulsivity, Agenesis of corpu...	OMIM:618929
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Amoebiasis Due To Entamoeba Histolytica	Anemia, Leukocytosis, Lung abscess, Liver abscess	ORPHA:67
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	OMIM:222700
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Avian Influenza	Myelitis, Respiratory distress, Tachypnea, Dyspnea, Miscarriage	ORPHA:454836
Gm1-Gangliosidosis, Type I	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly	OMIM:230500
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Retinal pigment epithelial mottling, Decreased amplitude of sensory ac...	OMIM:618733
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Difficulty walking, Inability to walk...	ORPHA:464738
Autoimmune Hepatitis	Viral hepatitis, Increased circulating IgG level, Ascites, Splenomegaly, Sclerosing cholangitis, ...	ORPHA:2137
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Necrotizing Enterocolitis	Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia	ORPHA:391673
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpoceph...	OMIM:620113
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Kleefstra Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Self-mutilation, Agenesis of corpus callosum,...	ORPHA:261494
Oromandibular Dystonia	Respiratory distress, Bruxism, Dysphagia	ORPHA:93958
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Chromosome 14Q11-Q22 Deletion Syndrome	Spasticity, Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mi...	OMIM:613457
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:214110
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis	ORPHA:188
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
8P Inverted Duplication/Deletion Syndrome	Progressive spastic paraplegia, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypertonia, S...	ORPHA:96092
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Hepatocellular adenoma, Hepatoce...	ORPHA:79240
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Decreased circulating IgA level, Leukocytosis,...	OMIM:620376
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:217980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Polymicrogyria, Intracerebral periventricular calcifications, Cereb...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,...	ORPHA:77261
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Secondary microcephaly, Cerebellar hypoplasia, Lissencephaly	ORPHA:50810
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Dysphagia	OMIM:620166
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Whipple Disease	Anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:3452
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:36238
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
8P11.2 Deletion Syndrome	Hemolytic anemia, Spherocytosis, Splenomegaly	ORPHA:251066
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Microcephaly, Compulsive behaviors, Holopro...	ORPHA:261236
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Doors Syndrome	Thrombocytosis	ORPHA:79500
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypochromic anemia, Leukocytosis, Splenomegaly	ORPHA:289157
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Hyperactivity, Ane...	OMIM:619148
Bohring-Opitz Syndrome	Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr...	OMIM:605039
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Intracerebral periventricular calcifications, Apnea, Death in infancy, Agenesis o...	OMIM:608836
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy	ORPHA:96180
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:222448
Melas	Aplasia/Hypoplasia of the cerebral white matter, Cerebral cortical atrophy, Abnormal central moto...	ORPHA:550
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysphagia	ORPHA:98805
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, C...	ORPHA:96147
Toriello-Carey Syndrome	Abnormal corpus callosum morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesi...	ORPHA:3338
Urachal Cyst	Abdominal mass, Peritonitis, Leukocytosis, Abscess	ORPHA:488
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi...	ORPHA:90038
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Polymicrogyria, Agenesis of corpus callosum...	OMIM:620305
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
21Q22.11Q22.12 Microdeletion Syndrome	Self-injurious behavior, Bruxism, Stereotypical body rocking, Agenesis of corpus callosum, Microc...	ORPHA:261323
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Abscess, Peritonitis, Splenic absce...	ORPHA:810
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ...	ORPHA:3243
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea	ORPHA:2759
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Compulsive behaviors, Aggressive behavior, Hyperactivity, Agenesis of corpus callosum	OMIM:309520
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Choanal Atresia	Respiratory distress, Choking episodes	ORPHA:137914
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Enlarged kidney, Hepa...	OMIM:232220
Pyomyositis	Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron defic...	ORPHA:37042
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Impaired T cell function	OMIM:201100
Trichothiodystrophy	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Spasticity, Gait ataxia, Periventricular l...	ORPHA:33364
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MR...	OMIM:277170
Achondroplasia	Brain stem compression, Respiratory distress, Death in infancy, Hydrocephalus, Megalencephaly	OMIM:100800
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia	ORPHA:3309
Apert Syndrome	Hydrocephalus, Chiari malformation, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:87
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ...	ORPHA:193
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Spasticity, Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callo...	OMIM:618500
Endocrine-Cerebroosteodysplasia	Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia o...	OMIM:612651
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Polymicrogyria, Cerebellar vermis atrophy, Agenesis of corpus callosum, Cereb...	OMIM:614866
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Poor coordination	ORPHA:420794
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Chiari malformation, Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Anterior Segment Dysgenesis 8	Iris transillumination defect, Optic nerve dysplasia	OMIM:617319
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Desmosterolosis	Spasticity, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Partial agene...	OMIM:602398
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Olivopontocerebell...	ORPHA:457284
Dyskeratosis Congenita	Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocytopenia, Anemia, Abn...	ORPHA:1775
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Trichothiodystrophy 4, Nonphotosensitive	Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly	OMIM:234050
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum	ORPHA:261476
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Microform Holoprosencephaly	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:280200
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Agenesis of c...	OMIM:610828
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca...	ORPHA:1692
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Werner Syndrome	White forelock, Abnormality of retinal pigmentation, Premature graying of hair	ORPHA:902
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Pachydermoperiostosis	Anemia, Hepatomegaly, Splenomegaly	ORPHA:2796
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal...	ORPHA:139411
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Dysphagia, Microcephaly, Agenesis of corpus callosum	OMIM:300000
Marshall-Smith Syndrome	Cerebral atrophy, Apnea, Cervical cord compression, Death in childhood, Agenesis of corpus callos...	OMIM:602535
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pachygyria, Neonatal death	OMIM:231680
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Pancreatitis, Thrombocytopenia	ORPHA:36426
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum	ORPHA:2519
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ...	ORPHA:699
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:617260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Absent brainst...	ORPHA:90321
Genitopatellar Syndrome	Microcephaly, Apnea, Agenesis of corpus callosum	ORPHA:85201
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea	ORPHA:2707
Semilobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal brainstem morphology, Abnormal central motor function, Ag...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal brainstem morphology, Abnormal central motor function, Ag...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Inability to walk, Abnormal brainstem morphology, Abnormal central motor function, Ag...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Inability to walk, Abnormal brainstem morphology, Abnormal central motor function, Ag...	ORPHA:93924
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Chiari malformation, Hydrocephalus	ORPHA:93259
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Cerebral atrophy, Respiratory distress, Hypo...	ORPHA:404448
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:394
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:602782
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Increased circulating antibody level, H...	OMIM:615846
Chitayat Syndrome	Respiratory distress	OMIM:617180
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:556955
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Genitourinary And/Or Brain Malformation Syndrome	Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o...	OMIM:618820
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly	ORPHA:565612
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Microcephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:616271
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Tyrosinemia, Type I	Ascites, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrhosis, Anemia, Enlarg...	OMIM:276700
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum	ORPHA:96168
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cerebellar atrophy, Cerebral atrophy	OMIM:620306
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Peritonitis, Leukocytosis, Splenomegaly, Lymphadenopathy	ORPHA:32960
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Death in infancy, Agenesis of corpus callosum...	ORPHA:847
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Dysphagia, Death in childhood, Death in infancy	OMIM:620278
Bohring-Opitz Syndrome	Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, ...	ORPHA:97297
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum	ORPHA:93317
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
15Q Overgrowth Syndrome	Syringomyelia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:314585
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Acromelic Frontonasal Dysostosis	Calcification of falx cerebri, Tubulonodular pericallosal lipoma, Hypoplasia of the corpus callos...	OMIM:603671
Apert Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Chiari type I malfo...	OMIM:101200
Sotos Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Partial agenesis of the corpus cal...	OMIM:117550
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Exertional dyspnea, Dysphagia, Hypoventilation	ORPHA:98915
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Infantile Krabbe Disease	Respiratory distress, Abnormal periventricular white matter morphology, Hypointensity of cerebral...	ORPHA:206436
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching	ORPHA:367
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Aicardi Syndrome	Cerebellar vermis hypoplasia, Chiari malformation, Lateral ventricle dilatation, Polymicrogyria, ...	OMIM:304050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Respiratory distress, Hypoplasia of the corpus callosum, Cerebellar h...	OMIM:300968
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea, Myelopathy	ORPHA:79241
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Orofaciodigital Syndrome I	Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Porencephalic cyst, Agenesis of c...	OMIM:311200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Sensory axonal neuropathy, Abnormal motor nerve conduction velocity, Abnormality of retinal pigme...	ORPHA:466768
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Mogs-Cdg	Respiratory distress, Apnea, Hypoventilation, Hypoplasia of the corpus callosum	ORPHA:79330
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:301043
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
1Q21.1 Microdeletion Syndrome	Microcephaly, Attention deficit hyperactivity disorder, Hydrocephalus, Agenesis of corpus callosum	ORPHA:250989
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Cerebral cortical atrophy, Head-banging, Lateral ventricle dilatation, ...	ORPHA:177907
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Microphthalmia, Syndromic 3	Spastic diplegia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, S...	OMIM:206900
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio...	ORPHA:191
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Histiocytoid Cardiomyopathy	Hydrocephalus, Cerebellar malformation, Hemiplegia, Agenesis of corpus callosum	ORPHA:137675
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cerebellar cyst, Agenesis of corpus callosum	OMIM:613091
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Respiratory distress, Apnea, Aggressive behavior, Anorexia, Dysphagia,...	ORPHA:2131
Biotinidase Deficiency	Hepatomegaly, Splenomegaly	OMIM:253260
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, Chiari malformation	ORPHA:93260
Fryns Syndrome	Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2059
Holoprosencephaly 1	Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo...	OMIM:236100
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum	OMIM:605376
Craniofaciofrontodigital Syndrome	Respiratory distress, Hyperintensity of cerebral white matter on MRI, Dyspnea	ORPHA:363705
Marden-Walker Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydro...	ORPHA:2461
Presynaptic Congenital Myasthenic Syndromes	Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Choking ...	ORPHA:98914
Congenital Myasthenic Syndrome	Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Choking ...	ORPHA:590
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Peripheral demyelinat...	ORPHA:79282
Phace Syndrome	Hemiplegia/hemiparesis, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Dandy-W...	ORPHA:42775
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Splenomegaly	OMIM:610717
Orofaciodigital Syndrome V	Microcephaly, Overfriendliness, Agenesis of corpus callosum	OMIM:174300
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Opitz Gbbb Syndrome	Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:2745
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased circulating total IgG, Hepatitis, Decreased proporti...	OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle ...	OMIM:210710
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Hypoplasia of the corpus c...	OMIM:615948
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat...	ORPHA:580
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Microcephaly, Progressive microcephaly	OMIM:610536
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro...	ORPHA:77293
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Segmental peripheral demyelination/remyelination, Rod-cone...	ORPHA:255210
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:209900
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith...	OMIM:216400
Meckel Syndrome, Type 1	Cerebral hypoplasia, Chiari malformation, Occipital encephalocele, Dilated fourth ventricle, Agen...	OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus	OMIM:309801
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Progressive microcephaly	OMIM:607143
Diaphanospondylodysostosis	Respiratory distress, Polymicrogyria	OMIM:608022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mic...	ORPHA:508498
Coffin-Siris Syndrome	Oral aversion, Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Hyperactivity, Dan...	ORPHA:1465
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Abnor...	ORPHA:186
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ...	ORPHA:355
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dysphagia	ORPHA:100050
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Cervical myelopathy	OMIM:183900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Leukoencephalopathy, Cerebral atrophy, Respiratory distress, Apnea, Aggressive behavior, Microcep...	ORPHA:17
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Chiari type...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Inappropriate laughter, Overfriendliness, Agenesis of corpus callosum, Chiari type...	ORPHA:363958
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,...	OMIM:615465
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Difficulty walking, Agenesis of corpus callosum	OMIM:618748
Vici Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Schizencephaly, Dysphagia	OMIM:242840
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Microcephaly	ORPHA:438216
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea	ORPHA:26793
Kniest Dysplasia	Respiratory distress	OMIM:156550
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Attention deficit h...	OMIM:227646
Wolf-Hirschhorn Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia	ORPHA:280
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,...	OMIM:151050
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Cone/cone-rod dystrophy, Axonal loss, Optic disc pallor	ORPHA:404454
Neu-Laxova Syndrome 1	Lissencephaly, Hydranencephaly, Neonatal death, Cerebellar hypoplasia, Agenesis of corpus callosu...	OMIM:256520
Jacobsen Syndrome	Cerebral atrophy, Death in infancy, Agenesis of corpus callosum, Attention deficit hyperactivity ...	ORPHA:2308
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:667
Orofaciodigital Syndrome Type 1	Tremor, Agenesis of corpus callosum, Dandy-Walker malformation, Ataxia	ORPHA:2750
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Wilson Disease	Portal fibrosis, Ascites, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Atypical or p...	OMIM:277900
Williams Syndrome	Cerebral cortical atrophy, Spasticity, Involuntary movements, Chiari malformation, Gait imbalance...	ORPHA:904
Neuroblastoma	Respiratory distress, Spinal cord compression	ORPHA:635
Toriello-Lacassie-Droste Syndrome	Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:3339
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217085
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Microcytic anemia, Hepatic steatosis, Splenomegaly, Prolonged neo...	OMIM:619525
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Hardikar Syndrome	Hepatic fibrosis, Portal inflammation, Intrahepatic bile duct cysts, Cholestasis, Hepatosplenomeg...	OMIM:301068
Orofaciodigital Syndrome Type 14	Open operculum, Dilated fourth ventricle, Hypoplasia of the corpus callosum, Microcephaly, Molar ...	ORPHA:434179
Tuberous Sclerosis Complex	Self-injurious behavior, Respiratory distress, Aggressive behavior, Attention deficit hyperactivi...	ORPHA:805
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Impaired pain sensation, Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:453504
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus	ORPHA:1555
Smith-Lemli-Opitz Syndrome	Global brain atrophy, Cerebellar atrophy, Self-mutilation, Death in infancy, Chiari type I malfor...	OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Impaired pain sensation, Inability to walk, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:352665
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, C...	ORPHA:99827
Camurati-Engelmann Disease	Anemia, Hepatomegaly, Leukopenia, Splenomegaly	ORPHA:1328
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217093
Neurofibromatosis Type 1	Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera...	ORPHA:636
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration	ORPHA:581
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Spasticity, Hydrocephalus	OMIM:305450
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Abetalipoproteinemia	Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy	ORPHA:14
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve...	OMIM:181000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Sensory axonal neuropathy, Retinal pigment epithelial mottling	OMIM:607459
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Death in infancy	OMIM:617478
Ramos-Arroyo Syndrome	Respiratory distress, Primary microcephaly, Self-mutilation	ORPHA:1051
Cryptococcosis	Cerebral cortical atrophy, Respiratory distress, Hydrocephalus, Dyspnea, Cerebral edema	ORPHA:1546
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Spasticity, Dysmetria, Tremor, Microcephaly, Ataxia, Truncal ataxia...	OMIM:220111
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the corpus callosum, Hypertonia, Agenesis of corpus callosum	OMIM:619194
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Peripheral dysmyelina...	OMIM:133540
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:304110
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Mgat2-Cdg	Respiratory distress, Progressive microcephaly, Stereotypical hand wringing	ORPHA:79329
Lujo Hemorrhagic Fever	Respiratory distress, Cerebral edema, Dysphagia	ORPHA:319213
Chromosome 13Q14 Deletion Syndrome	Holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpu...	OMIM:613884
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Respiratory distress, Impaired oral bolus formation, Microcephaly, Res...	OMIM:615273
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Partial agenesis of the corpus callosum, Apnea, Hydrocephalus	OMIM:300373
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration	OMIM:234200
Trisomy 8P	Microcephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:264450
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly, Elevated hemoglobin A1c, Acute pancreat...	OMIM:269700
Rodrigues Blindness	Nasal flaring	OMIM:268320
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Monosomy 22Q13.3	Bruxism, Agenesis of corpus callosum, Hair-pulling, Hyperactivity, Cerebellar cortical atrophy	ORPHA:48652
Coffin-Siris Syndrome 4	Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:614609
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Gabriele-De Vries Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Tremor, Abnormal cerebral white m...	ORPHA:506358
Osteogenesis Imperfecta, Type X	Respiratory distress, Death in childhood	OMIM:613848
Rubinstein-Taybi Syndrome 1	Respiratory distress, Self-mutilation, Agenesis of corpus callosum, Microcephaly, Hyperintensity ...	OMIM:180849
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Episodic respiratory distress, Addictive alcohol use, Tachypnea,...	ORPHA:31826
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal cerebellum morphology, Optic nerve hypoplasia, Agenesis of corpus callosum	ORPHA:226307
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Communicating hydrocephalus, Agenesis of corpus callosum, Microceph...	OMIM:619841
Oculopharyngodistal Myopathy 1	Respiratory distress, Dysphagia, Abnormal cerebral white matter morphology	OMIM:164310
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Cocaine Intoxication	Respiratory distress, Ischemic stroke, Tachypnea, Hyperventilation, Agitation	ORPHA:90068
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Stillbirth, An...	OMIM:236680
Toxic Epidermal Necrolysis	Respiratory distress, Polydipsia, Dysphagia	ORPHA:537
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum, Tethered cord, Spina bifida	OMIM:619480
Esophageal Atresia	Respiratory distress, Dysphagia, Oral aversion, Episodic respiratory distress	ORPHA:1199
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Fryns Syndrome	Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Stillb...	OMIM:229850
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus	OMIM:618188
Wiedemann-Rautenstrauch Syndrome	Spasticity, Polymicrogyria, Abnormal corpus striatum morphology, Action tremor, Tremor, Agenesis ...	ORPHA:3455
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Leukoencephalopathy	OMIM:620369
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy...	OMIM:157170
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Opp...	OMIM:607872
Farber Disease	Respiratory distress	ORPHA:333
Monosomy 9P	Microcephaly, Hypertonia, Agenesis of corpus callosum	ORPHA:261112
Bacterial Toxic-Shock Syndrome	Respiratory distress, Tachypnea	ORPHA:36234
Radio-Renal Syndrome	Respiratory distress, Dyspnea	ORPHA:3015
Alstrom Syndrome	Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy	OMIM:203800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Multifocal hyperintensity of cerebral white matter on MRI	ORPHA:308552
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Nijmegen Breakage Syndrome	Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Blau Syndrome	Anemia, Abnormality of the liver, Splenomegaly, Lymphadenopathy	ORPHA:90340
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Microgastria-Limb Reduction Defect Syndrome	Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2538
Wiedemann-Rautenstrauch Syndrome	Chiari malformation, Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Truncal ataxia, Inte...	OMIM:264090
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Holoprosencephaly 9	Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Holoprosenceph...	OMIM:610829
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2658
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, ...	ORPHA:261537
Wolf-Hirschhorn Syndrome	Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Hydro...	OMIM:194190
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea	ORPHA:3342
Acrocallosal Syndrome	Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:200990
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Hydrocephalus	OMIM:261740
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Respiratory distress, Hypoplasia of the corpus callosum, Chiari type I...	ORPHA:798
Meier-Gorlin Syndrome 1	Respiratory distress, Microcephaly, Death in infancy	OMIM:224690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Hydrocephalus	ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Exertional dyspnea, Orthopnea, Dysphagia	ORPHA:365
Listeriosis	Respiratory distress, Miscarriage, Abnormal brainstem MRI signal intensity	ORPHA:533
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Nasal fla...	ORPHA:466943
1P36 Deletion Syndrome	Self-injurious behavior, Cerebral cortical atrophy, Agenesis of corpus callosum, Polyphagia, Micr...	ORPHA:1606
8Q24.3 Microdeletion Syndrome	Global brain atrophy, Respiratory distress, Secondary microcephaly, Hypoplasia of the corpus call...	ORPHA:508488
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Agenesis of corpus callosum, Primary micr...	ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, Aqueductal stenosis	OMIM:306955
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Retino...	OMIM:219800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Spasticity, Broad-based gait, Hypoplastic anterior commissure, Lateral ventricle dilatation, Seco...	ORPHA:261552
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cerebral cortical atrophy, Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypo...	ORPHA:2273
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy	OMIM:256810
Combined Pituitary Hormone Deficiencies, Genetic Forms	Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Septo-optic dysplasia, ...	ORPHA:95494
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Baller-Gerold Syndrome	Chiari malformation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occ...	OMIM:218600
Arboleda-Tham Syndrome	Respiratory distress, Microcephaly, Primary microcephaly, Dysphagia, Motor stereotypy	OMIM:616268
Simpson-Golabi-Behmel Syndrome	Death in infancy, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:373
Campomelic Dysplasia	Spinal dysraphism, Respiratory distress, Apnea, Hydrocephalus, Spina bifida	OMIM:114290
Atypical Werner Syndrome	Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat...	ORPHA:79474
Degcags Syndrome	Microcephaly, Choking episodes, Oral-pharyngeal dysphagia, Agenesis of corpus callosum	OMIM:619488
Ear-Patella-Short Stature Syndrome	Respiratory distress, Microcephaly, Dyspnea	ORPHA:2554
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Coffin-Siris Syndrome 1	Gait ataxia, Hypoplasia of the corpus callosum, Microcephaly, Spina bifida occulta, Partial agene...	OMIM:135900
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Focal cortical dysplasia, Impaired pa...	ORPHA:2152
Focal Dermal Hypoplasia	Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, ...	OMIM:305600
Gitelman Syndrome	Respiratory distress, Salt craving, Cerebral calcification, Polydipsia	ORPHA:358
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea, Agitation	ORPHA:340
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia...	ORPHA:744
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the brainstem, Respirator...	ORPHA:480880
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Cleidocranial Dysplasia 1	Respiratory distress, Syringomyelia	OMIM:119600
Coccidioidomycosis	Respiratory distress, Eosinophilia, Hydrocephalus	ORPHA:228123
17Q11 Microdeletion Syndrome	Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro...	ORPHA:97685
Nocardiosis	Respiratory distress, Dyspnea, Anorexia	ORPHA:31204
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions	ORPHA:1329
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Thin corpus callosum, Dysphagia	OMIM:606170
Mowat-Wilson Syndrome	Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ...	OMIM:235730
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Femoral-Facial Syndrome	Encephalocele, Spina bifida, Agenesis of corpus callosum	OMIM:134780
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Congenital Tracheomalacia	Dyspnea, Apnea, Intercostal retractions	ORPHA:95430
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:93271
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Scimitar Syndrome	Respiratory distress	ORPHA:185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Microcephaly, Diffuse cerebral atrophy	ORPHA:83617
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Dyspnea	ORPHA:79404
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum	OMIM:261540
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebellar dysplasia, Abnormal septum pellucidum morphology, Cerebral white...	ORPHA:99646
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea	ORPHA:141127
Dermatomyositis	Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Dysphagia, Breast carcinoma	ORPHA:221
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Townes-Brocks Syndrome	Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cer...	OMIM:216340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Oral-pharyngeal dysphagia, Anorexia	ORPHA:95455
Leptospirosis	Respiratory distress, Anorexia	ORPHA:509
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Microcephaly	OMIM:614748
Plague	Respiratory distress, Anorexia	ORPHA:707
Craniofacial Microsomia 1	Hydrocephalus, Chiari malformation, Occipital encephalocele, Agenesis of corpus callosum	OMIM:164210
Kallmann Syndrome	Paraplegia, Gait disturbance, Tremor, Ataxia	ORPHA:478
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea	ORPHA:97214
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cerebral calcification, Encephalomalacia	ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy	ORPHA:99125
Ulbright-Hodes Syndrome	Respiratory distress	ORPHA:3404
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cerebellar hypoplasia	ORPHA:79318
Alström Syndrome	Respiratory distress, Polyphagia	ORPHA:64
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

Histopathology

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

There is no histopathology data for Dcc

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dcc.

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

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MGI Allele	Allele Type	Produced
Dcc^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dcc^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dcc MGI:94869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

Gross Pathology and Tissue Collection

X-ray

X-ray

Immunophenotyping

X-ray

Eye Morphology

X-ray

Immunophenotyping

MicroCT E14.5-E15.5

Human diseases caused by Dcc mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data