Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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	5.11×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy	Background staining in controls (WT)

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

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

Anatomy	Background staining in controls(WT)
axial skeleton	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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

24 Images

View images

Eye Morphology

Images Ophthalmoscopy

7 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Human diseases caused by Dcc mutations

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

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

Human diseases associated with Dcc (7 diseases)
Human diseases predicted to be associated with Dcc (1650 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, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology...	ORPHA:238722
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Kallmann Syndrome	Tremor, Gait disturbance, Ataxia, Paraplegia	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, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia, Ab...	ORPHA:356
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Familial Congenital Mirror Movements	Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology...	ORPHA:238722
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Adult Krabbe Disease	Hoffmann sign, Abnormal medulla oblongata morphology, Ataxia, Abnormal pyramidal tract morphology...	ORPHA:206448
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Spastic Paraplegia 2, X-Linked	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morp...	OMIM:312920
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Tremor, Abnormal pyramidal tract morphology, Babinski si...	ORPHA:83629
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co...	ORPHA:171703
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Spastic tetraplegia, Hypoplasia of th...	OMIM:611603
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Lissencephaly 4	Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo...	OMIM:614019
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxi...	ORPHA:453521
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral pattern, Cerebral atr...	OMIM:618492
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess	OMIM:604416
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t...	OMIM:307000
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Masa Syndrome	Hemiplegia/hemiparesis, Spastic paraplegia, Agenesis of corpus callosum, Gait disturbance	ORPHA:2466
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Lissencephaly, X-Linked, 1	Ataxia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:182600
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Pe...	ORPHA:255182
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100989
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal ...	OMIM:604360
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oro...	ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar...	OMIM:617090
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Simplified gyral pat...	OMIM:619302
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat...	OMIM:607259
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Microcephaly, Impaired distal vibrati...	OMIM:619742
Spastic Paraplegia 8, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:603563
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypertonia, Inferior cerebellar ...	OMIM:618959
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainste...	OMIM:619301
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para...	ORPHA:444099
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Polymicrogyria, Microcephaly, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
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
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c...	OMIM:616540
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100999
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171612
Masa Syndrome	Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai...	OMIM:303350
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Appendicular spasticity, Inability to walk, Periventricular leukomalacia, Age...	OMIM:618324
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171863
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Abcd Syndrome	Polycythemia	OMIM:600501
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Myasthenic Syndrome, Congenital, 23, Presynaptic	Frequent falls, Agenesis of corpus callosum	OMIM:618197
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Ataxia	OMIM:551500
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Cirrhosis	OMIM:613280
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o...	OMIM:619466
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebellar hypo...	OMIM:304100
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Poor coordinat...	OMIM:617695
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor	OMIM:619389
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene...	OMIM:618286
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Glycine Encephalopathy 1	Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Agenesis of corp...	OMIM:605899
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp...	OMIM:613153
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spastic Paraplegia 4, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:182601
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog...	OMIM:600348
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ...	OMIM:613162
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:166024
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro...	OMIM:615095
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla...	OMIM:175100
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc...	ORPHA:2182
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Spastic gait, Progressive spastic paraplegia, Degeneration of the lateral ...	ORPHA:320355
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Poems Syndrome	Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis...	ORPHA:2905
Microcephaly 16, Primary, Autosomal Recessive	Simplified gyral pattern, Spastic tetraplegia, Primary microcephaly, Spasticity, Agenesis of corp...	OMIM:616681
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo...	OMIM:613101
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Thi...	OMIM:613647
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Ataxia, Babinski sign, Progressive gait ataxia, Cort...	ORPHA:644
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Optic Atrophy 6	Optic atrophy	OMIM:258500
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100993
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia...	OMIM:615934
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Tetraplegia, Hypertonia, Agenesis of corpus callosum	OMIM:274270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly, Dysphagia	OMIM:619025
Microhydranencephaly	Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:605013
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Poor gross motor co...	OMIM:245349
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum...	OMIM:616171
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, Agenesis of corpus callosum	OMIM:619548
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	ORPHA:171617
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Chiari malform...	OMIM:207950
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of the corpus callosum, O...	OMIM:619653
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypertonia, Nonprogressive cerebellar ataxia, Primary...	ORPHA:466688
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration, Central heterochromia	OMIM:275400
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Peripheral axonal neuropathy	OMIM:619090
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Coach Syndrome 2	Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Molar tooth sign on MRI, Agenesi...	OMIM:619111
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py...	OMIM:614833
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe...	ORPHA:98
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Microcephaly, Death in childhood, Parietal cortical atrophy, Frontal cortical a...	OMIM:618766
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia...	OMIM:616819
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Hypopl...	ORPHA:561854
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts	OMIM:193300
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Delpire-Mcneill Syndrome	Spasticity, Hypertonia, Agenesis of corpus callosum, Cortical dysplasia	OMIM:619083
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ...	ORPHA:370959
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Microcephaly, Tetraplegia, Spasticity, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:2508
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Microcephaly, Inability to walk, Cerebellar gliosis, Partial agenesis of the corpus callo...	ORPHA:79243
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cere...	ORPHA:168486
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity, Agenesis of corpus callosum	OMIM:618238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Agenesis of corpus callosum	OMIM:250620
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte...	OMIM:616212
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of...	OMIM:616342
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Joubert Syndrome 25	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydran...	OMIM:225790
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microl...	ORPHA:89844
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu...	OMIM:617977
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo...	OMIM:607196
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Spastic diplegia, Cerebra...	OMIM:600118
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Fumarase Deficiency	Intrahepatic cholestasis, Ascites, Polycythemia	OMIM:606812
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Abnormal dentate nucleus morphology, Microcephaly, Partial agenesis of the corpus c...	OMIM:619517
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Interstitial Lung And Liver Disease	Hepatomegaly, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic steatosis, Anemia	OMIM:615486
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Hypoplasia...	ORPHA:500144
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk...	ORPHA:20
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Babinski sign, Lissencephaly, Cerebellar hypoplasia, Pachygyria,...	OMIM:620316
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia	OMIM:616490
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Abnormal corpus striatum morphology, Respiratory insufficiency	ORPHA:238329
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Perching Syndrome	Respiratory distress, Dysphagia	OMIM:617055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph...	OMIM:253800
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia cysts, Myoclonus, Episodic...	OMIM:312170
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D...	OMIM:615122
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G...	ORPHA:220497
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:617562
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebell...	OMIM:617669
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Dysphagia, Cough	ORPHA:77260
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Fg Syndrome 3	Chiari type I malformation, Death in infancy, Hyperactivity, Agenesis of corpus callosum	OMIM:300406
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski si...	ORPHA:2524
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cerebral white matter atro...	OMIM:615042
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:1832
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walk...	OMIM:164180
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Loss of ...	OMIM:611390
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts	ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ...	ORPHA:86822
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Spasticity, Agenesis of corpus callosum, Microcephaly	OMIM:615286
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Cerebellar hypoplasia	OMIM:615228
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A...	OMIM:616362
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Leukoencephalopathy With Ataxia	Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malfo...	OMIM:618476
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydrocephalus, G...	ORPHA:220493
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Protra...	ORPHA:100079
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi...	OMIM:212065
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Inability to walk, Hypoplasia of the brainstem, Progressive microcephaly, Difficulty walk...	ORPHA:481152
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300934
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Succinic Acidemia	Respiratory distress	OMIM:600335
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Polycythe...	ORPHA:116
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Microcephaly, Respiratory distress, Death in childhood	OMIM:615597
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos...	OMIM:618603
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Craniofacial Dyssynostosis With Short Stature	Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus ...	OMIM:218350
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Hypertonia, Spasticity, Microcephaly	OMIM:618346
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Ogden Syndrome	Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, Macrovesicular ...	OMIM:300855
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab...	ORPHA:47612
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl...	ORPHA:424016
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Polymicrogyria	OMIM:616974
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia	OMIM:606764
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c...	OMIM:618986
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea...	ORPHA:905
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, ...	OMIM:300887
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Agenesis of corpus callosum, Respiratory...	ORPHA:990
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi...	OMIM:620352
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal flecks, Yellow/white lesions of the...	ORPHA:100996
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Alobar holoprosencephaly	OMIM:615433
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Death in infancy, Respiratory distress, Neuronal loss in basal ganglia, Cereb...	OMIM:604377
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Recurren...	OMIM:214150
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Agenesis of corpus ca...	OMIM:218000
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Lissencephaly, X-Linked, 2	Spasticity, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly	OMIM:615637
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior	OMIM:237310
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia, Clumsiness	OMIM:619320
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho...	OMIM:617591
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Birk-Landau-Perez Syndrome	Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Pachygyria, A...	OMIM:617595
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera...	ORPHA:1145
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corp...	OMIM:616239
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphadenopathy, Anem...	ORPHA:540
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
4Q21 Microdeletion Syndrome	Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocep...	OMIM:613150
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Nipah Virus Disease	Respiratory distress, Anorexia, Cough	ORPHA:99825
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Spastic paraplegia, Cerebral atrophy, Lower limb hyperto...	OMIM:617296
Ritscher-Schinzel Syndrome 4	Ataxia, Chorea, Athetosis, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malfo...	OMIM:619435
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Frontotemporal cerebral atrophy, Apnea, Respiratory distress	ORPHA:79097
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Agenesis of corpus ...	ORPHA:1446
Leigh Syndrome	Chorea, Choreoathetosis, Encephalomalacia, Focal T2 hyperintense basal ganglia lesion, Agenesis o...	ORPHA:506
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal cerebellum mor...	OMIM:211530
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough	ORPHA:142
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos...	OMIM:603553
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Stt3B-Cdg	Cerebellar atrophy, Respiratory distress, Microcephaly	ORPHA:370924
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Sialidosis Type 2	Splenomegaly, Ascites, Hepatomegaly	ORPHA:87876
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Frontonasal Dysplasia 1	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph...	OMIM:136760
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Agnathia-Otocephaly Complex	Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia	OMIM:202650
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial a...	OMIM:614643
Cronkhite-Canada Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:2930
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
X-Linked Lissencephaly With Abnormal Genitalia	Spasticity, Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Unsteady gait, Hypoplasia of the corpus callosum, Gait a...	OMIM:618109
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Muckle-Wells Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:575
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Syringomyelia, Agenesis of corpus callosum, Hypoplasia of the corpus ...	OMIM:613735
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Smith-Magenis Syndrome	Microcephaly, Impaired pain sensation, Aplasia/Hypoplasia of the corpus callosum, Gait disturbanc...	ORPHA:819
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Polymicrogyria...	ORPHA:899
Alexander Disease	Cerebral calcification, Ataxia, Clonus, Megalencephaly, Aqueductal stenosis, Tremor, Chorea, Hydr...	ORPHA:58
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy...	OMIM:619272
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atrophy, Hypertonia, Hypoplas...	OMIM:615802
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hy...	ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se...	ORPHA:88628
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ...	OMIM:610377
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ...	ORPHA:2004
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Adrenomyeloneuropathy	Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, Pr...	ORPHA:139399
Malaria	Respiratory distress	ORPHA:673
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Leukoenceph...	OMIM:619244
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men...	OMIM:236670
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iij	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:613489
Choanal Atresia	Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit...	ORPHA:137914
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Acanthocytosis	OMIM:300842
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Restlessness, Respiratory distress, Microcephaly, Hypoplasia of the corpus ca...	ORPHA:544503
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Abnormal cerebral white matter morphology, Respiratory f...	ORPHA:330021
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Microcephaly, Cough	ORPHA:86812
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk...	ORPHA:292
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Niemann-Pick Disease, Type C1	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Thin corpus callosum, Spa...	OMIM:619720
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Halperin-Birk Syndrome	Inability to walk, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Colpocephaly, Agenesi...	OMIM:618651
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Hepatomegaly	ORPHA:834
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Mic...	ORPHA:209905
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma...	ORPHA:97286
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Hemiplegia/hemiparesis, ...	ORPHA:3157
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Gait disturbance	ORPHA:1812
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Partial agenesis of the corpus callosum, Apraxia, Oculomotor apraxia, Ag...	OMIM:620250
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Myotonic Dystrophy 1	Respiratory distress, Obsessive-compulsive trait, Cerebral atrophy, Dysphagia	OMIM:160900
Temtamy Syndrome	Hypertonia, Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Spastic tetraplegia, Tetraplegia, Microcephaly	OMIM:300004
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the...	ORPHA:314679
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Wolfram Syndrome 1	Pigmentary retinopathy, Neurogenic bladder, Optic atrophy	OMIM:222300
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ...	OMIM:620073
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Renal Coloboma Syndrome	Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys...	OMIM:614576
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation...	OMIM:609053
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia	ORPHA:99812
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Spastic diplegia, Microcephaly	OMIM:619980
Immunodeficiency 49	Eosinophilia, Agenesis of corpus callosum, Spastic tetraplegia, Reduced cerebral white matter volume	OMIM:617237
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Abnormal midbrain morphology, Microcephaly, Hypoplasia of o...	ORPHA:314621
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Macrovesicular h...	OMIM:617303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Abnormal substantia nig...	ORPHA:79139
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Hepatomegaly	OMIM:612852
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:252920
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Pseudo-Torch Syndrome 1	Splenomegaly, Jaundice, Thrombocytopenia, Hepatomegaly	OMIM:251290
Macrocephaly/Autism Syndrome	Splenomegaly, Decreased circulating antibody level, Lymphopenia, Hepatomegaly	OMIM:605309
Chromosome 5P13 Duplication Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Compulsive ...	OMIM:613174
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Radio-Tartaglia Syndrome	Ataxia, Microcephaly, Tremor, Gait imbalance, Agenesis of corpus callosum	OMIM:619312
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Agitation, Abnormal repetitive mannerisms, Microcephaly	ORPHA:927
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Hypoplas...	OMIM:616482
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Emanuel Syndrome	Microcephaly, Hydrocephalus, Dysphagia, Cerebral atrophy, Abnormal cerebral white matter morpholo...	ORPHA:96170
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Pontocerebellar atrophy, Secondary microcephaly	OMIM:608799
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Spina bifida occult...	OMIM:617360
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Cerebral cortical atrophy, Microcephaly	OMIM:618201
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Death in infancy, Apnea,...	OMIM:618426
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Upper airway obstruction, Hypoplasia of the olfactory bulb, Retrocere...	ORPHA:1827
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy	OMIM:610651
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Anorexia, Cerebellar gliosis, Tachypnea, Hyperintensity of cerebra...	ORPHA:3008
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Rigidity, Hydrocephalus, Macr...	ORPHA:35107
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites	OMIM:235200
Typhoid	Splenomegaly, Hepatomegaly	ORPHA:99745
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the...	OMIM:619512
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Intellectual Disability-Strabismus Syndrome	Microcephaly, Gait disturbance, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corpus...	ORPHA:363528
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Attention ...	OMIM:619383
Moebius Syndrome	Respiratory distress, Hypoplasia of the brainstem, Dysphagia	OMIM:157900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly	ORPHA:261304
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Cerebral cortical atrophy, Respiratory distress, Microcephaly	ORPHA:254913
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Microcephaly, Cerebellar hypoplasia, Tracheo...	OMIM:217980
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hepatomegaly	OMIM:239200
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co...	OMIM:612863
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Chiari type I malformation, Occipital m...	OMIM:601707
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Hepatic fibrosis, Cholestasis, Hepatomegaly	OMIM:615630
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalu...	ORPHA:157
Pediatric-Onset Graves Disease	Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm...	ORPHA:525731
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Anorexia	ORPHA:79242
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma	ORPHA:2510
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Holoprosencephaly 14	Cerebellar atrophy, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Micr...	OMIM:619895
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Intracerebral periventricular calcifications, Ap...	OMIM:608836
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce...	OMIM:243605
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Dysphagia	OMIM:620166
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spast...	OMIM:616449
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Cerebral white matter atrophy, Cerebellar hypoplasia, Abnormal periventricu...	ORPHA:329178
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d...	OMIM:618872
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy...	OMIM:264480
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress	ORPHA:37612
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo...	OMIM:115310
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,...	OMIM:619775
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Aicardi-Goutieres Syndrome 1	Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Hepatomegaly	OMIM:225750
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease...	OMIM:613385
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Hepatomegaly	OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Stereotypical hand wringing, Bruxism	OMIM:612337
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I...	OMIM:618929
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Q Fever	Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o...	ORPHA:781
Kleefstra Syndrome	Aggressive behavior, Microcephaly, Dyspnea, Agenesis of corpus callosum, Self-injurious behavior,...	ORPHA:261494
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Tetraplegia, Cerebral hypoplas...	OMIM:257300
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Tetraplegia, Cerebral atro...	ORPHA:2396
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Anterior Segment Dysgenesis 8	Iris transillumination defect, Optic nerve dysplasia	OMIM:617319
Gm1-Gangliosidosis, Type I	Splenomegaly, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
American Trypanosomiasis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Inability to walk, Hypertonia, Hypoplasia of the corpus callosum, Spasticity, Pachy...	OMIM:613457
Oromandibular Dystonia	Respiratory distress, Dysphagia, Bruxism	ORPHA:93958
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombocytopenia	OMIM:608013
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walki...	ORPHA:464738
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Liver abscess, Lung abscess, Anemia	ORPHA:67
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibrosis, Cirrhosis, Hepatocellular c...	ORPHA:79240
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
8P Inverted Duplication/Deletion Syndrome	Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker...	ORPHA:96092
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Intracerebra...	ORPHA:228308
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the...	ORPHA:171
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:50918
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress	OMIM:271225
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly	ORPHA:50810
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Whipple Disease	Splenomegaly, Mediastinal lymphadenopathy, Anemia, Hepatomegaly	ORPHA:3452
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Upper airway obstructio...	OMIM:603671
Doors Syndrome	Thrombocytosis	ORPHA:79500
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Aspiration, Agenesis of corpus callosum	OMIM:300000
16P13.11 Microdeletion Syndrome	Microcephaly, Self-injurious behavior, Holoprosencephaly, Compulsive behaviors, Agenesis of corpu...	ORPHA:261236
Achondroplasia	Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction, ...	OMIM:100800
Pudendal Neuralgia	Neoplasm of the genitourinary tract, Constipation, Anal canal adenocarcinoma, Genital neoplasm	ORPHA:60039
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Melas	Abnormal central motor function, Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal g...	ORPHA:550
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hyperactivity, Aggressive behavior, Microcephaly, Anencephaly, Agenesis of corpus ...	OMIM:619148
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Resp...	OMIM:220110
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
Toriello-Carey Syndrome	Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus callosum, Cerebral at...	ORPHA:3338
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Urachal Cyst	Leukocytosis, Peritonitis, Abdominal mass, Abscess	ORPHA:488
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysphagia	ORPHA:98805
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arteri...	ORPHA:3309
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Marshall-Smith Syndrome	Apnea, Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogy...	OMIM:602535
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia	OMIM:263700
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati...	OMIM:232220
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce...	ORPHA:810
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin...	ORPHA:261323
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior	OMIM:309520
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Molar tooth sign on MRI, Occipital meningocele,...	OMIM:277170
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Respiratory insufficiency, Chiari malformation, Agenesis...	ORPHA:87
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agene...	OMIM:614866
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Abnormal pyramida...	ORPHA:33364
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Microform Holoprosencephaly	Asthma, Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce...	ORPHA:2519
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function, Hepatomegaly	OMIM:201100
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ...	ORPHA:93317
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2707
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:123790
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE...	ORPHA:37042
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum	ORPHA:261476
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Poor coordination	ORPHA:420794
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Tracheomalacia	ORPHA:93259
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Respiratory insufficiency, Colpocephaly, Hypoplasia of the corpus callosum, Agenesi...	OMIM:617260
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Pneumothorax, Respiratory distress, Cerebral atrophy	OMIM:620306
Wolfram Syndrome 2	Neurogenic bladder, Optic atrophy, Optic neuropathy	OMIM:604928
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Adnp Syndrome	Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Microcephaly, Cerebral atro...	ORPHA:404448
15Q Overgrowth Syndrome	Hydrocephalus, Syringomyelia, Pulmonary arterial hypertension, Agenesis of corpus callosum, Dandy...	ORPHA:314585
Pachydermoperiostosis	Splenomegaly, Anemia, Hepatomegaly	ORPHA:2796
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Semilobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Microcephaly, Hydrocephalus, Abnormal brainstem morphology, Neural tube defect, As...	ORPHA:93924
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pachygyria, Neonatal death	OMIM:231680
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Respiratory insufficiency	ORPHA:367
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr...	ORPHA:699
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Stridor, Hypoplasia of the corpus call...	ORPHA:2745
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Respiratory distress, Microcephaly, Recurrent pneumonia, Cerebral atrophy	OMIM:616271
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep...	OMIM:602782
Genitopatellar Syndrome	Agenesis of corpus callosum, Apnea, Microcephaly	ORPHA:85201
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom...	OMIM:276700
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Diarrhea, Leiomyosarcoma, Adrenocorti...	ORPHA:139411
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Pancreatitis, Abnormality of neutrophils	ORPHA:36426
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Infantile Krabbe Disease	Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re...	ORPHA:206436
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Agenesis of corpus callosum, Recurrent aspiration pneumonia	OMIM:300472
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly	ORPHA:565612
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar...	OMIM:618820
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti...	OMIM:615846
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Multifocal hyperintensi...	ORPHA:308552
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Bohring-Opitz Syndrome	Microcephaly, Inability to walk, Lower limb hypertonia, Hypoplasia of the corpus callosum, Agenes...	ORPHA:97297
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Microcephaly, Self-injurious behavior, Agenesis of corpus callosum, Cerebral co...	ORPHA:847
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Chiari type I malformation, Cerebellar h...	OMIM:101200
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Attention deficit hyperactivity...	OMIM:117550
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Diaphanospondylodysostosis	Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Chiari malformation, Respiratory distress, Tracheomalacia	ORPHA:93260
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit...	ORPHA:2131
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical ...	OMIM:210710
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Abnormal cortical gyration, Cerebellar hypoplasia, Hypoplasia of the corpus...	OMIM:300968
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Hyperintensity of cerebral white matter on MRI, Pulmonary arterial...	ORPHA:363705
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia	ORPHA:100050
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Wilson Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Atypical or prolonged hepatitis, Jaundice, Anemia, ...	OMIM:277900
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Microcephaly, Head-banging, Lateral ventricle dilatation, Abnormal temper t...	ORPHA:177907
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:250989
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Biotinidase Deficiency	Respiratory distress, Myelopathy, Apnea, Hyperventilation	ORPHA:79241
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Spastic tetraplegia, Spastic diplegia, Hypoplasia of the co...	OMIM:206900
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic...	ORPHA:1546
Biotinidase Deficiency	Splenomegaly, Hepatomegaly	OMIM:253260
Histiocytoid Cardiomyopathy	Hydrocephalus, Tachypnea, Cough, Cerebellar malformation, Agenesis of corpus callosum	ORPHA:137675
Coffin-Siris Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Aspiration pneumonia,...	ORPHA:1465
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy	OMIM:203800
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Hypoplasia of the corpus callosum	ORPHA:79330
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Microcephaly, Atrophy of the spinal cord, Hydrocephalus...	ORPHA:79282
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Pigmentary retinopathy	OMIM:214100
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci...	ORPHA:77293
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect	OMIM:183900
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Cerebellar cyst	OMIM:613091
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Agenesis of ...	ORPHA:42775
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum, Overfriendliness	OMIM:174300
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Progressive microcephaly	OMIM:607143
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip...	ORPHA:191
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cere...	OMIM:249000
Williams Syndrome	Ataxia, Involuntary movements, Atrophy/Degeneration involving the corticospinal tracts, Tremor, M...	ORPHA:904
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Progressive microcephaly, Microcephaly	OMIM:610536
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Cerebral edema	ORPHA:319213
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Hydrocephalus, Dural ectasia, Chiari type I malformation, Inappropria...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Dural ectasia, Chiari type I malformation, Inappropria...	ORPHA:363958
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Mgat2-Cdg	Respiratory distress, Progressive microcephaly, Cerebellar hypoplasia, Stereotypical hand wringing	ORPHA:79329
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:505248
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/rem...	ORPHA:255210
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
Cockayne Syndrome A	Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ...	OMIM:216400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Hypoplasia of th...	ORPHA:508498
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic fibros...	ORPHA:2072
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Abnormal basal ganglia MRI signal intensity, Apnea, Aggressive behavior, Mi...	ORPHA:17
Hartsfield Syndrome	Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem...	OMIM:615465
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum, Difficulty walking	OMIM:618748
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly	ORPHA:667
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum	OMIM:242840
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Fanconi Anemia, Complementation Group D2	Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d...	OMIM:227646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Microcephaly	ORPHA:438216
Hardikar Syndrome	Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Sple...	OMIM:301068
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Ischemic stroke, Cough, Hyper...	ORPHA:90068
Jacobsen Syndrome	Death in infancy, Spina bifida, Cerebral atrophy, Attention deficit hyperactivity disorder, Pachy...	ORPHA:2308
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Neu-Laxova Syndrome 1	Spina bifida, Stillbirth, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Primary microceph...	OMIM:256520
Orofaciodigital Syndrome Type 1	Tremor, Ataxia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Camurati-Engelmann Disease	Splenomegaly, Leukopenia, Anemia, Hepatomegaly	ORPHA:1328
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t...	ORPHA:453504
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Death in infancy, Hyperactivity, Diffuse cerebral atrophy, Aggressive behavio...	OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t...	ORPHA:352665
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Restrictive ventilatory defect, Dysphagia, Polydipsia	ORPHA:537
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia, Microcephaly	ORPHA:280
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus	ORPHA:1555
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ...	OMIM:619525
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Axonal loss	ORPHA:404454
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity	OMIM:305450
Osteopathia Striata With Cranial Sclerosis	Apnea, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Spina bifida occulta	OMIM:300373
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Ramos-Arroyo Syndrome	Respiratory distress, Self-mutilation, Primary microcephaly	ORPHA:1051
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus callos...	OMIM:220111
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Sensory axonal neuropathy	OMIM:607459
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias...	OMIM:181000
Chromosome 13Q14 Deletion Syndrome	Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu...	OMIM:613884
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Epistaxis, Aggr...	OMIM:619841
Mucopolysaccharidosis Type 3	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:581
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypertonia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin	OMIM:234200
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Cirrhosis, Hepatic steat...	OMIM:269700
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of respiration,...	ORPHA:31826
Cockayne Syndrome B	Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ...	OMIM:133540
Rodrigues Blindness	Nasal flaring	OMIM:268320
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Microcephaly, Impaired oropharynge...	OMIM:615273
Fryns Syndrome	Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Chylothorax, Agenesis o...	OMIM:229850
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict...	ORPHA:536467
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callos...	ORPHA:506358
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hyperactivity, Spina bifida, Impulsivity, Microcephaly, Hyperintensity of c...	OMIM:180849
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Bruxism, Agenesis of corpus callosum, Cerebellar cortical atrophy	ORPHA:48652
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:157170
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Leukoencephalopathy	OMIM:620369
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Tethered cord, Thin corpus callosum, Spina bifida	OMIM:619480
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis...	OMIM:610829
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur...	ORPHA:340
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Microcephaly, Hydrocephalus, Polymicrogyria, Polyphagia, Leukoencephalopathy...	OMIM:607872
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus	OMIM:618188
Monosomy 9P	Hypertonia, Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intensity, Respirator...	ORPHA:533
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d...	OMIM:114290
Degcags Syndrome	Pneumonia, Oral-pharyngeal dysphagia, Microcephaly, Asthma, Rhinitis, Choking episodes, Tracheoma...	OMIM:619488
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Wiedemann-Rautenstrauch Syndrome	Ataxia, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hypertonia, Cerebellar ...	ORPHA:3455
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Blau Syndrome	Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy	ORPHA:90340
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo	OMIM:251260
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema, Microcephaly	OMIM:224690
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Dand...	OMIM:264090
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv...	ORPHA:466943
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Hydrocephalus	OMIM:261740
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Chiari type I malformation, Neural tube defect, Hypopl...	ORPHA:798
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Wolf-Hirschhorn Syndrome	Tethered cord, Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Agen...	OMIM:194190
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensit...	ORPHA:261537
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Dysphagia, Primary microcephal...	OMIM:616268
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Coccidioidomycosis	Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p...	ORPHA:228123
8Q24.3 Microdeletion Syndrome	Respiratory distress, Hyperactivity, Optic nerve hypoplasia, Tics, Secondary microcephaly, Hypopl...	ORPHA:508488
Yunis-Varon Syndrome	Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pach...	ORPHA:3472
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2554
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
1P36 Deletion Syndrome	Microcephaly, Polyphagia, Self-injurious behavior, Agenesis of corpus callosum, Dysphagia, Abnorm...	ORPHA:1606
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm...	OMIM:219800
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus...	ORPHA:261552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Chiari malformation, Spina bifida occulta, Agenesis of cor...	OMIM:218600
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy	OMIM:256810
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina...	ORPHA:744
Simpson-Golabi-Behmel Syndrome	Death in infancy, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Syringomyelia	OMIM:119600
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Coffin-Siris Syndrome 1	Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus call...	OMIM:135900
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesi...	OMIM:305600
Mowat-Wilson Syndrome	Focal cortical dysplasia, Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar ...	ORPHA:2152
Gitelman Syndrome	Respiratory distress, Polydipsia, Salt craving, Cerebral calcification	ORPHA:358
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Respiratory distress, Cerebellar vermis hypoplasia, Abnormal cortical g...	ORPHA:480880
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene...	ORPHA:95494
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Ascites	ORPHA:75565
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malfo...	ORPHA:93271
Dermatomyositis	Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma	ORPHA:221
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Microcephaly	OMIM:614748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Microcephaly	ORPHA:83617
Leptospirosis	Respiratory distress, Pleural effusion, Anorexia, Cough	ORPHA:509
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre...	ORPHA:99646
Simpson-Golabi-Behmel Syndrome, Type 1	Neonatal respiratory distress, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydroce...	OMIM:312870
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Townes-Brocks Syndrome	Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Aspiration pneumonia, Hypoplas...	OMIM:216340
Plague	Respiratory distress, Acute infectious pneumonia, Anorexia	ORPHA:707
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Kallmann Syndrome	Tremor, Gait disturbance, Ataxia, Paraplegia	ORPHA:478
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cerebral calcification, Encephalomalacia	ORPHA:51608
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aspiration pneumonia, ...	ORPHA:79318
Alström Syndrome	Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Restrictive ventilatory...	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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dcc MGI:94869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Eye Morphology

X-ray

X-ray

X-ray

MicroCT E14.5-E15.5

Immunophenotyping

Gross Pathology and Tissue Collection

Immunophenotyping

Human diseases caused by Dcc mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data