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Gene: Dcc MGI:94869

Gene Summary

Name:

deleted in colorectal carcinoma

Synonyms:

C030036D22Rik, Igdcc1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy	Background staining in controls (WT)

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

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

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

Associated Images

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

Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

24 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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Human diseases caused by Dcc mutations

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

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

Human diseases associated with Dcc (7 diseases)
Human diseases predicted to be associated with Dcc (1694 diseases)

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

Disease	Matching phenotypes	Source
Familial Congenital Mirror Movements	Poor fine motor coordination, Cerebral palsy, Agenesis of corpus callosum, Clumsiness, Abnormal c...	ORPHA:238722
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Hemiparesis, Unsteady gait, Agene...	OMIM:617542
Colorectal Cancer	Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran...	OMIM:114500
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Kallmann Syndrome	Paraplegia, Tremor, Ataxia, Gait disturbance	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	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Autosomal Recessive Spastic Paraplegia Type 67	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy...	ORPHA:401820
Retinitis Pigmentosa 42	Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar...	OMIM:612943
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Gerstmann-Straussler-Scheinker Syndrome	Abnormality of extrapyramidal motor function, Dysesthesia, Limb myoclonus, Abnormal pyramidal tra...	ORPHA:356
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti...	OMIM:614039
Spinocerebellar Ataxia 13	Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration...	OMIM:605259
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of th...	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	Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst...	OMIM:615771
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l...	OMIM:610245
Familial Congenital Mirror Movements	Poor fine motor coordination, Cerebral palsy, Agenesis of corpus callosum, Clumsiness, Abnormal c...	ORPHA:238722
Adult Krabbe Disease	Abnormal pyramidal tract morphology, Ataxia, Abnormal pons morphology, Acroparesthesia, Clumsines...	ORPHA:206448
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Autosomal Recessive Spastic Paraplegia Type 69	Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Agenesis of corpus callosum...	ORPHA:401830
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brains...	ORPHA:83629
Dystonia 9	Abnormal pyramidal tract morphology, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign...	OMIM:601042
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal tract morph...	OMIM:608768
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Autosomal Recessive Spastic Paraplegia Type 32	Hypoplasia of the corpus callosum, Babinski sign, Difficulty walking, Cerebellar cortical atrophy...	ORPHA:171622
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Cer...	OMIM:604213
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM...	OMIM:209950
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary...	ORPHA:171703
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar...	OMIM:615268
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Lissencephaly 3	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep...	OMIM:611603
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Spastic Paraplegia 2, X-Linked	Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Abnormal cerebellum morph...	OMIM:312920
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Spinocerebellar Ataxia 10	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis...	OMIM:603516
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Lissencephaly 4	Babinski sign, Hypertonia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, C...	OMIM:614019
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Abnorma...	OMIM:236792
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ...	ORPHA:453521
Huntington Disease-Like 3	Abnormality of extrapyramidal motor function, Chorea, Spasticity, Frontal cortical atrophy, Abnor...	OMIM:604802
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal tract morphology, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:260540
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Inability to walk, Spasticity, Microcephaly,...	OMIM:618492
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome...	ORPHA:3318
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia	OMIM:604416
Masa Syndrome	Spastic paraplegia, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Gait disturbance	ORPHA:2466
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum, Poor coordination	ORPHA:200
Dystonia 16	Bradykinesia, Retrocollis, Abnormal pyramidal tract morphology, Gait disturbance, Involuntary mov...	OMIM:612067
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Sub-Cortical Nodular Heterotopia	Hypoplasia of the corpus callosum, Polymicrogyria, Spasticity, Abnormal basal ganglia morphology,...	ORPHA:101029
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic paraplegi...	OMIM:307000
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy	OMIM:620569
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
X-Linked Neurodegenerative Syndrome, Bertini Type	Ataxia, Agenesis of corpus callosum	ORPHA:85334
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cerebellar Ataxia, Cayman Type	Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia...	ORPHA:94122
Lissencephaly, X-Linked, 1	Spasticity, Agyria, Ataxia, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300067
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Autosomal Spastic Paraplegia Type 30	Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax...	ORPHA:101010
Spastic Paralysis, Infantile-Onset Ascending	Babinski sign, Tetraplegia, Spastic paraplegia, Spastic tetraplegia, Abnormal lower motor neuron ...	OMIM:607225
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Adenomatous Polyposis 3	Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl...	OMIM:616415
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autosomal Dominant Spastic Paraplegia Type 8	Spastic gait, Babinski sign, Limb ataxia, Difficulty walking, Lower limb spasticity, Impaired vib...	ORPHA:100989
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa...	ORPHA:255182
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Impaired vibration sensat...	ORPHA:444099
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Oromotor apraxia, Cavum septum pellucidum, Polymicrogyria, Cor...	ORPHA:300573
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Muir-Torre Syndrome	Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be...	OMIM:158320
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons, Hemiparesis, Unsteady gait, Agene...	OMIM:617542
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl...	OMIM:608716
Pontocerebellar Hypoplasia, Type 14	Hypertonia, Hydrocephalus, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus c...	OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 22	Hypoplasia of the corpus callosum, Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Int...	OMIM:616948
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Retinitis Pigmentosa 71	Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence...	OMIM:616394
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Ascites, Increased hematocrit	ORPHA:284227
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici...	OMIM:619742
Autosomal Dominant Spastic Paraplegia Type 37	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Impaired vibration sensat...	ORPHA:171612
Hereditary Mixed Polyposis Syndrome	Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ...	ORPHA:157794
Autosomal Dominant Spastic Paraplegia Type 42	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	ORPHA:171863
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Spastic Paraplegia 3, Autosomal Dominant	Spastic gait, Babinski sign, Hypoplasia of the corpus callosum, Lower limb spasticity, Paraplegia...	OMIM:182600
Developmental And Epileptic Encephalopathy 88	Hypertonia, Inferior cerebellar vermis hypoplasia, Progressive microcephaly, Hypoplasia of the po...	OMIM:618959
Amyotrophic Lateral Sclerosis 8	Fasciculations, Abnormal pyramidal tract morphology, Loss of ambulation, Abnormal pyramidal sign,...	OMIM:608627
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Pontocerebellar Hypoplasia, Type 15	Hypertonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Spastic tetrapl...	OMIM:619302
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Hypertonia, Microlissencephaly, Spasticity, Hypoplasia of the ...	OMIM:617090
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Ventriculomegaly And Arthrogryposis	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:619501
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre...	OMIM:616053
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Abnormal pyramidal tract morpho...	OMIM:613135
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Babinski sign, Hypoplasia of the corpus callosum, Lower limb spastici...	OMIM:604360
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Spastic Paraplegia 7, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Degeneration of the lateral corticospinal tra...	OMIM:607259
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Epilepsy, Progressive Myoclonic, 9	Frequent falls, Action myoclonus, Gait ataxia, Simplified gyral pattern, Agenesis of corpus callo...	OMIM:616540
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Autosomal Dominant Spastic Paraplegia Type 19	Spastic gait, Babinski sign, Impaired proprioception, Difficulty walking, Limb ataxia, Lower limb...	ORPHA:100999
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Microcephaly, Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Masa Syndrome	Lower limb spasticity, Hydrocephalus, Paraplegia, Shuffling gait, Spastic paraplegia, Microcephal...	OMIM:303350
Spastic Paraplegia 8, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:603563
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Inability to walk, Appendicular spasticity, Cerebellar atrophy, Age...	OMIM:618324
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Abnormal pyramidal tract morphology, Cerebellar atrophy, Abnormal pyramidal sig...	OMIM:256600
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria	OMIM:617584
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Tongue fasciculations, Spast...	OMIM:618276
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Abcd Syndrome	Polycythemia	OMIM:600501
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum, Frequent falls	OMIM:618197
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor...	ORPHA:250972
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Abnormal basal ganglia ...	OMIM:607483
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ...	ORPHA:255138
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden...	ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ...	ORPHA:247798
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Distal sensory impairment, Abnormal pyramidal tract morphology, Spastic paraplegia...	OMIM:256850
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Hypermanganesemia With Dystonia 1	Polycythemia, Hepatomegaly, Cirrhosis	OMIM:613280
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Corticospinal tract atrophy	OMIM:551500
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Atrophy/Degeneration affecting the brainstem, Microcephaly, Cerebral cortic...	OMIM:620200
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Amyotrophic Lateral Sclerosis 1	Fasciculations, Spasticity, Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, D...	OMIM:105400
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Sickle Cell Anemia	Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,...	OMIM:276300
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He...	OMIM:614470
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Dysplastic corpus callosum, Secondary microcephaly, Inability to walk, Spasticity, Reduced cerebr...	OMIM:620317
Corpus Callosum, Partial Agenesis Of, X-Linked	Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Spastici...	OMIM:304100
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Pontocerebellar Hypoplasia, Type 11	Limb ataxia, Hypoplasia of the corpus callosum, Difficulty walking, Inability to walk, Broad-base...	OMIM:617695
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Spinocerebellar Ataxia, Autosomal Recessive 29	Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor	OMIM:616389
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr...	ORPHA:98769
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Macrocephaly, Acquired, With Impaired Intellectual Development	Thin corpus callosum, Impulsivity, Probst bundles, Agenesis of corpus callosum, Attention deficit...	OMIM:618286
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell...	OMIM:613908
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Glycine Encephalopathy 1	Hyperactivity, Impulsivity, Death in infancy, Restlessness, Agenesis of corpus callosum, Aggressi...	OMIM:605899
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns...	ORPHA:423275
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Lissencephaly Due To Tuba1A Mutation	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Opti...	ORPHA:171680
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Poly...	ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Craniotelencephalic Dysplasia	Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fronta...	OMIM:218670
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai...	OMIM:615957
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Autosomal Dominant Spastic Paraplegia Type 41	Spastic gait, Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Progressiv...	ORPHA:320355
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Craniotelencephalic Dysplasia	Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, C...	ORPHA:1528
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Autosomal Dominant Spastic Paraplegia Type 38	Spastic gait, Babinski sign, Frontotemporal cerebral atrophy, Lower limb spasticity, Impaired vib...	ORPHA:171617
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:166024
Spastic Paraplegia 45, Autosomal Recessive	Spastic gait, Babinski sign, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lower...	OMIM:613162
Spinocerebellar Ataxia Type 12	Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell...	ORPHA:98762
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Decreased circulating ...	OMIM:226300
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb...	ORPHA:276193
Retinitis Pigmentosa 26	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor	OMIM:608380
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca...	ORPHA:79501
Spinocerebellar Ataxia Type 37	Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Gait dis...	ORPHA:363710
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:616570
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Hypertonia, Spasticity, Cerebellar hemisphere hypoplasia, Cerebellar atrophy, R...	OMIM:615095
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Spasticity, Hemiplegia/hemiparesis, Holoprosencephaly, Agenes...	ORPHA:2182
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Thin corpus callosum, Periventricular white matter h...	OMIM:248900
Autosomal Dominant Spastic Paraplegia Type 12	Spastic gait, Babinski sign, Impaired proprioception, Difficulty walking, Limb ataxia, Lower limb...	ORPHA:100993
Band Heterotopia	Hydrocephalus, Polymicrogyria, Spasticity, Agenesis of corpus callosum, Lateral ventricle dilatat...	OMIM:600348
Microcephaly 16, Primary, Autosomal Recessive	Spasticity, Simplified gyral pattern, Agenesis of corpus callosum, Spastic tetraplegia, Primary m...	OMIM:616681
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor...	ORPHA:275872
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo...	ORPHA:314978
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar cyst, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypopla...	OMIM:613153
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Spastic Paraplegia 4, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Paraplegia, Impaired vibration sensation in t...	OMIM:182601
Spastic Paraplegia 48, Autosomal Recessive	Spastic gait, Tip-toe gait, Hypoplasia of the corpus callosum, Thin corpus callosum, Periventricu...	OMIM:613647
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia	OMIM:613977
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum, Respiratory distress	OMIM:619466
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Aicardi-Goutieres Syndrome 1	Cerebral atrophy, Inability to walk, Deep white matter hypodensities, Abnormality of extrapyramid...	OMIM:225750
Spinocerebellar Ataxia 11	Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G...	OMIM:604432
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno...	OMIM:615934
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Joubert Syndrome 30	Molar tooth sign on MRI, Superior cerebellar dysplasia, Dandy-Walker malformation, Polymicrogyria...	OMIM:617622
Narp Syndrome	Babinski sign, Abnormal basal ganglia MRI signal intensity, Corticospinal tract atrophy, Myocloni...	ORPHA:644
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Livedoid Vasculopathy	Polycythemia, Anemia, Leukocytosis, Pancytopenia	ORPHA:542643
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Developmental And Epileptic Encephalopathy 30	Death in infancy, Motor stereotypy, Respiratory distress	OMIM:616341
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Portal hypertension, Polycythemia, Copper accumulation in liver, Splenome...	ORPHA:309854
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 50	Microcephaly, Partial agenesis of the corpus callosum, Dysphagia	OMIM:619025
Microhydranencephaly	Hydranencephaly, Athetosis, Microcephaly, Agenesis of corpus callosum, Pachygyria, Spastic tetrap...	OMIM:605013
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Hypertonia, Tetraplegia, Microcephaly, Agenesis of corpus callosum	OMIM:274270
Optic Atrophy 14	Optic disc pallor	OMIM:620550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Simplified gyral patt...	OMIM:616171
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Hypoplasia of the corpus callosum, Global brain atrophy, Aplasia of the inferior half of the cere...	OMIM:610185
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, Agenesis of corpus callosum	OMIM:619548
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Poor gross motor coordination, Poor fine motor coordination, Spastic paraplegia, Microcephaly, At...	OMIM:245349
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Agenesis of corpus callosum	OMIM:613163
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Colon cancer, Hematochezia, Intussusception, ...	OMIM:174900
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Thin corpus callosum, Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Opisthotonus,...	OMIM:619653
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:275400
Hydrolethalus Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Hypertonia, Limb hypertonia, Cerebellar vermis hypoplasia, Microcephaly, Nonprogressive cerebella...	ORPHA:466688
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen...	OMIM:226990
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor, Agenesis of corpus callosum	OMIM:231950
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Peripheral axonal neuropathy, Pigmentary retinopathy	OMIM:619090
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ...	ORPHA:79435
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Coach Syndrome 2	Molar tooth sign on MRI, Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesi...	OMIM:619111
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Hypoplasia of the corpus callosum, Babinski sign, Difficulty walking, Progressive cerebellar atax...	ORPHA:98
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Difficulty walking, Hyperkinetic movements, Inability to walk,...	ORPHA:561854
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Opisthotonus, Agenesi...	OMIM:207950
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in childhood, Frontal cortical atrophy, Death in infancy, Microcephaly, Parietal cortical a...	OMIM:618766
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Irvan Syndrome	Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm...	ORPHA:209943
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus cal...	OMIM:616819
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia, Oculomotor apraxia	OMIM:616781
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Optic nerve hypoplasia, Type II lissence...	ORPHA:370959
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Delpire-Mcneill Syndrome	Cortical dysplasia, Hypertonia, Spasticity, Agenesis of corpus callosum	OMIM:619083
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Tetraplegia, Spasticity, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:2508
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Polycythemia, Neoplasm of the pancreas, Pancreatic cysts	OMIM:193300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebellar cys...	ORPHA:79243
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc...	OMIM:615688
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut...	ORPHA:870
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait	ORPHA:284271
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Agenesis of corpus callosum, Spastic tetraplegia, Choreoathetosis, Caudate atrophy	OMIM:618238
Stuve-Wiedemann Syndrome 2	Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Dysphagia	OMIM:619751
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Dihydropyrimidinase Deficiency	Abnormal pyramidal tract morphology, Microcephaly, Extrapyramidal dyskinesia, Abnormal cerebral w...	OMIM:222748
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Spasticity, Polymicrogyria, Cerebellar atroph...	OMIM:614833
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Limb hypertonia, Polymicrogyria, Spasticity, Microlissencephal...	OMIM:616212
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly...	OMIM:225790
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Death in infancy, Microcephaly, Neonatal death, Agenesis of corpus callosum, Cerebellar h...	OMIM:616342
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplasia of the corpus callosum, Respiratory distress, Cerebral calcification, Microlissencepha...	ORPHA:89844
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Muscular Hypertonia, Lethal	Death in infancy, Respiratory distress	OMIM:254120
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hypoplasia...	OMIM:618736
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Microcephaly, Amish Type	Limb hypertonia, Cerebellar vermis hypoplasia, Myoclonus, Cerebellar hypoplasia, Primary microcep...	OMIM:607196
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Hypoplasia of the corpus callosum, Respiratory distress, Reduced cerebral white matter volume, Ce...	OMIM:617977
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Head titubation, Ataxia, Agenesis of corpus callosum, Myoclonus, Dysmetria	OMIM:250620
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ...	OMIM:618213
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Warburg Micro Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Microcephaly, ...	OMIM:600118
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:603909
Fumarase Deficiency	Polycythemia, Intrahepatic cholestasis, Ascites	OMIM:606812
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, P...	ORPHA:168486
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind...	OMIM:619130
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin corpus callosum, Death in childhood, Abnormal dentate nucleus morphology, Microcephaly, Late...	OMIM:619517
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase...	OMIM:615559
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Hepatic fibrosis, Thrombocytosis, Hepatic steatosis	OMIM:615486
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a...	ORPHA:324636
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum	ORPHA:1496
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Caspase 8 Deficiency	Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ...	OMIM:607271
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Babesiosis	Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Spinocerebellar Ataxia, Autosomal Recessive 18	Babinski sign, Oculomotor apraxia, Incoordination, Truncal ataxia, Dysdiadochokinesis, Cerebellar...	OMIM:616204
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Friedreich Ataxia 2	Babinski sign, Incoordination, Abnormal pyramidal tract morphology, Abnormal medulla oblongata mo...	OMIM:601992
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Chorea, Spasticity, Generalized cerebral atrophy/...	ORPHA:98759
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Babinski sign, Limb hypertonia, Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cer...	OMIM:620316
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Leukopenia, Thrombocytosis, Lip...	ORPHA:20
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Secondary microcephaly, Hyperintensity of cerebral white matter on MRI, Spasticity, Vocal cord pa...	ORPHA:500144
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Myasthenic Syndrome, Congenital, 6, Presynaptic	Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi...	OMIM:254210
Idiopathic Hypereosinophilic Syndrome	Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati...	ORPHA:3260
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Perching Syndrome	Dysphagia, Respiratory distress	OMIM:617055
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Pontocerebellar atrophy, Cerebe...	OMIM:620428
Spinocerebellar Ataxia 5	Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Upper motor neuron dysfunction...	OMIM:600224
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia	ORPHA:98827
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of thrombocytes	ORPHA:172
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia	OMIM:616490
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Autosomal Recessive Primary Microcephaly	Microcephaly, Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum	ORPHA:2512
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Basal ganglia cysts, Tremor, Episodic ataxia, Microcephaly, Agenesis of corpus ...	OMIM:312170
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Respiratory distress	ORPHA:141152
Colorectal Cancer	Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran...	OMIM:114500
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Spinocerebellar Ataxia 44	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria	OMIM:617691
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Limb myoclonus, ...	ORPHA:101030
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le...	OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ...	OMIM:301074
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased mean plate...	ORPHA:84064
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E...	OMIM:601775
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Oculomotor apraxia, Encephalocele, Hydrocephalus, Cerebellar vermis hypo...	ORPHA:220497
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Iris transillumination defect, Macular hypopigmentation, Hyp...	ORPHA:79432
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi...	OMIM:605809
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Abnormal cortical g...	ORPHA:2524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Cerebral cortical atrophy, Simplif...	OMIM:617669
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:617562
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:620010
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy, Cerebellar atrophy, Gait disturbance, Ataxia	OMIM:614229
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ...	OMIM:616050
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Pigmentary retinopathy	ORPHA:3363
Fg Syndrome 3	Hyperactivity, Chiari type I malformation, Agenesis of corpus callosum, Death in infancy	OMIM:300406
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m...	OMIM:222470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l...	ORPHA:158057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cerebellar cyst, Encephalocele, Lissencephaly, Hydrocephalus, Polymicrogyria, Type II lissencepha...	OMIM:253800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Sjögren-Larsson Syndrome	Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera...	ORPHA:816
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Brucellosis	Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev...	ORPHA:1304
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Abnormality of extrapyramidal motor function, Cerebral calcification, Spasticity, Tremor, Abnorma...	OMIM:612199
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr...	ORPHA:381
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Macrocytic anemia	OMIM:615578
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor...	ORPHA:897
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circula...	ORPHA:3392
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Oculomotor apraxia, Optic nerve hypoplasia, Type II lissencephaly, Lateral ventricle dilatation, ...	ORPHA:300570
Spinocerebellar Ataxia Type 19/22	Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca...	ORPHA:98772
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia	OMIM:246000
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Abnormal corpus striatum morphology	ORPHA:238329
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Orbita...	OMIM:164180
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Spastic Ataxia 3, Autosomal Recessive	Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy...	OMIM:611390
Leukocyte Adhesion Deficiency	Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Impaired platelet aggregation, L...	ORPHA:2968
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:611590
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Microcephaly, Agenesis of...	OMIM:615249
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Neuroendocrine Neoplasm Of Appendix	Ovarian neoplasm, Midgut malrotation, Mechanical ileus, Adenocarcinoma of the colon, Constipation...	ORPHA:100079
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Cerebellar hypoplasia, Apnea, Neonatal death	OMIM:615228
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Microcephaly, Spasticity, Agenesis of corpus callosum	OMIM:615286
Leukoencephalopathy With Ataxia	Retinoschisis, Chorioretinal atrophy, Choroidal neovascularization, Optic neuropathy	OMIM:615651
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Inability to walk, Hydrocephalus, Gait ataxia, Microcephaly, A...	OMIM:616362
Von Hippel-Lindau Disease	Polycythemia, Neoplasm of the pancreas, Pancreatic cysts, Pancreatic islet cell adenoma	ORPHA:892
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal basal ganglia morphology, Atrophy of the spinal cord, Neuronal loss in the cerebral cort...	ORPHA:86822
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Abnormality...	ORPHA:1451
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Craniosynostosis 6	Spina bifida occulta, Dandy-Walker malformation, Cerebellar atrophy, Microcephaly, Agenesis of co...	OMIM:616602
Gaucher Disease Type 2	Abnormal pattern of respiration, Dysphagia, Respiratory distress	ORPHA:77260
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary microcephaly, Partial agen...	OMIM:604804
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu...	OMIM:600638
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Oculomotor apraxia, Encephalocele, Hydrocephalus, Cerebellar vermis hypo...	ORPHA:220493
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Respiratory distress, Cerebral white matter atrophy, Death in infancy, Ce...	OMIM:615042
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hyperintensity of cerebral white matter on MRI, Difficulty walking, Chiari type I malformation, H...	OMIM:618476
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the corpus callosum, Global brain atrophy, Difficulty walking, Inability to walk, L...	ORPHA:481152
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Agenesis of corpus callosum	OMIM:610498
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Decreased circulating IgG level, Hepatic fibrosis, Thrombocytosis, Hepatic steatosi...	OMIM:212065
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre...	ORPHA:891
Lethal Osteosclerotic Bone Dysplasia	Microcephaly, Dyspnea, Respiratory distress	ORPHA:1832
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iy	Microcephaly, Respiratory distress, Hypoplasia of the corpus callosum	OMIM:300934
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax...	OMIM:609270
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal hemorrhage...	ORPHA:44890
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ...	ORPHA:398124
Succinic Acidemia	Respiratory distress	OMIM:600335
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Gist-Plus Syndrome	Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor	OMIM:175510
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Spinocerebellar Ataxia 6	Progressive cerebellar ataxia, Incoordination, Truncal ataxia, Cerebellar atrophy, Frequent falls...	OMIM:183086
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus ...	OMIM:218350
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Congenital Disorder Of Glycosylation, Type Ix	Microcephaly, Death in childhood, Cerebellar atrophy, Respiratory distress	OMIM:615597
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Polycyt...	ORPHA:116
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Microcephaly, Hypertonia, Spasticity, Partial agenesis of the corpus callosum	OMIM:618346
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microlissencephaly, Small cerebral cor...	OMIM:617914
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the...	OMIM:618603
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia, Neurofibroma	OMIM:606764
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Septooptic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone marrow hypocellularit...	ORPHA:86839
Amish Lethal Microcephaly	Limb hypertonia, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus cal...	ORPHA:99742
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multiple enchondr...	OMIM:620189
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Pleural Mesothelioma	Dyspnea, Dysphagia, Respiratory distress	ORPHA:50251
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Polymicrogyria, Respiratory distress	OMIM:616974
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Neoplasm of the rectum, Neoplasm of the lung, Neoplasm of the ske...	ORPHA:424016
Spinocerebellar Ataxia Type 8	Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ...	ORPHA:98760
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Immunodeficiency 95	Respiratory distress	OMIM:619773
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Neuroleptic Malignant Syndrome	Thrombocytosis, Thrombocytopenia, Leukocytosis	ORPHA:94093
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaundice, Thromboc...	OMIM:170100
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome...	ORPHA:905
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Autosomal Recessive Spastic Paraplegia Type 15	Peripheral axonal neuropathy, Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the...	ORPHA:100996
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Respiratory...	ORPHA:990
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Congenital Myopathy 10A, Severe Variant	Dysphagia, Respiratory distress	OMIM:614399
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum	OMIM:619955
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis	ORPHA:2331
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Thin corpus callosum, Appendicular spasticity, Reduced cerebral white mat...	OMIM:620352
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:300887
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Inability to walk, Tremor, Limb tremor, Diffuse white matter abnormalities, Agenesis of corpus ca...	OMIM:218000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb...	OMIM:620156
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Lissencephaly, X-Linked, 2	Pachygyria, Lissencephaly, Spasticity, Agenesis of corpus callosum	OMIM:300215
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly	OMIM:256550
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Respiratory distress	ORPHA:240085
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Microcephaly, Agenesis of corpus callosum	OMIM:619989
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly...	OMIM:606003
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Pigmentary retinopathy	ORPHA:370968
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:617591
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Anal Fistula	Leukocytosis	ORPHA:228113
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus	OMIM:619320
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum	OMIM:614583
Combined Oxidative Phosphorylation Deficiency 24	Hypoplasia of the corpus callosum, Spasticity, Cerebellar atrophy, Microcephaly, Agenesis of corp...	OMIM:616239
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Short Chain Acyl-Coa Dehydrogenase Deficiency	Microcephaly, Respiratory distress	ORPHA:26792
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Dyspnea, Respiratory distress	OMIM:267450
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic gait, Tip-toe gait, Cerebral atrophy, Limb hypertonia, Spastic paraplegia, Lower limb hyp...	OMIM:617296
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Tremor, Agenesis of corpus callosum	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar cyst, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, Cerebellar dy...	OMIM:613150
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen...	ORPHA:77259
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Dec...	ORPHA:540
Birk-Landau-Perez Syndrome	Limb ataxia, Difficulty walking, Limb hypertonia, Oculomotor apraxia, Microcephaly, Agenesis of c...	OMIM:617595
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating...	OMIM:617388
Recurrent Respiratory Papillomatosis	Respiratory distress, Dyspnea, Choking episodes, Dysphagia, Tachypnea	ORPHA:60032
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Ring Chromosome 22 Syndrome	Impaired pain sensation, Gait ataxia, Microcephaly, Agenesis of corpus callosum, Absent septum pe...	ORPHA:1446
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Microcephaly, Diffuse cerebral atrophy, Basal ganglia calcification, Agenesis...	OMIM:214150
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation, Anemia, Polycythemia, Brain abscess	OMIM:600376
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Relapsing Fever	Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Apnea, Cerebellar atrophy, Respiratory distress	ORPHA:79097
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Ritscher-Schinzel Syndrome 4	Chorea, Dandy-Walker malformation, Athetosis, Ataxia, Agenesis of corpus callosum, Cerebellar hyp...	OMIM:619435
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Neuronal loss in basal ganglia, Respiratory distress, Cerebellar atrophy, Death...	OMIM:604377
Leigh Syndrome	Chorea, Cerebellar atrophy, Ataxia, Diffuse spongiform leukoencephalopathy, Hyperkinetic movement...	ORPHA:506
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:175700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a...	ORPHA:77297
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cavum septum pellucidum	OMIM:619074
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ...	OMIM:267700
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Mitochondrial Pyruvate Carrier Deficiency	Progressive microcephaly, Respiratory distress	OMIM:614741
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti...	OMIM:615986
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L...	OMIM:617099
Sialidosis Type 2	Ascites, Hepatomegaly, Splenomegaly	ORPHA:87876
Stt3B-Cdg	Microcephaly, Cerebellar atrophy, Respiratory distress	ORPHA:370924
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Maternal Uniparental Disomy Of Chromosome X	Microcephaly, Agenesis of corpus callosum	ORPHA:261519
Meckel Syndrome 12	Cerebral hypoplasia, Microcephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Ce...	OMIM:616258
Leigh Syndrome	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating...	OMIM:620565
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Pachygyria, Spasticity, Agenesis of corpus callosum	ORPHA:452
Laryngotracheal Angioma	Apnea, Intercostal retractions, Respiratory distress	ORPHA:137935
Frontonasal Dysplasia 1	Pericallosal lipoma, Cranium bifidum occultum, Anterior basal encephalocele, Agenesis of corpus c...	OMIM:136760
Eosinophilic Gastroenteritis	Eosinophilia, Ascites, Anemia, Leukocytosis	ORPHA:2070
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypoplasia of the corpus callosum, Unsteady gait, Partial agenesis of the corpus callosum, Gait a...	OMIM:618109
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly	OMIM:230650
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Death in childhood, Encephalocele, Lissencephaly, Hydrocephalu...	OMIM:614643
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Respiratory distress, Abnormal anterior horn cell morphology...	ORPHA:1145
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
6Q25 Microdeletion Syndrome	Microcephaly, Agenesis of corpus callosum	ORPHA:251056
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Cronkhite-Canada Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:2930
Laryngomalacia	Respiratory distress	OMIM:150280
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co...	OMIM:613244
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Dysphagia, Respiratory distress	OMIM:613561
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Syringomyelia, Chiari type I malformation, Agenesis of corpus ...	OMIM:613735
Vici Syndrome	Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation...	ORPHA:1493
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618142
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Babinski sign, Hypertonia, Hypoplasia of the corpus callosum, Cerebellar vermis...	OMIM:615802
Agnathia-Otocephaly Complex	Holoprosencephaly, Agenesis of corpus callosum, Respiratory distress	OMIM:202650
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper...	ORPHA:2481
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,...	OMIM:610377
Alexander Disease	Aqueductal stenosis, Megalencephaly, Hydrocephalus, Chorea, Tetraplegia, Tremor, Spasticity, Cere...	ORPHA:58
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Cerebellar atrophy, Abnormal periventricular white matter morphology, Mic...	ORPHA:468631
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Abnormal peripheral nerve morphology by anatomical site,...	ORPHA:88628
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ...	ORPHA:231214
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Malaria	Respiratory distress	ORPHA:673
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Spasticity, Type ...	OMIM:615287
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis	ORPHA:83601
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation, Anemia, Polycythemia, Brain abscess	OMIM:187300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypoplasia of the corpus callosum, Respiratory distress, Cerebellar atrophy, Microcephaly, Restle...	ORPHA:544503
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:613489
Walker-Warburg Syndrome	Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyr...	ORPHA:899
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Head-banging, Cerebellar atrophy, Frequent temper tantrums, Microceph...	OMIM:619103
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Cortical dysplasia, ...	OMIM:613001
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Nipah Virus Disease	Anorexia, Respiratory distress	ORPHA:99825
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia...	OMIM:236670
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Corpus callosum atrophy, Microcephaly, Simplified gyral pattern, Lateral ventri...	OMIM:619244
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Pigmentary retinopathy	OMIM:613156
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:259700
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Respiratory distress	ORPHA:240103
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Mcleod Syndrome	Acanthocytosis, Hepatomegaly, Splenomegaly	OMIM:300842
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ...	ORPHA:1572
Diaphanospondylodysostosis	Myelomeningocele, Respiratory distress	ORPHA:66637
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of corpus callosum, Agenesis of cerebellar vermis, Encephalocele	ORPHA:228390
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Primary microcephaly, Partial agen...	OMIM:616051
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Thin corpus callosum, Chiari type I malformation, Cerebellar vermis hypoplasia, Spasticity, Micro...	OMIM:619720
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Leukopenia, Thrombocytopenia, ...	ORPHA:292
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Hereditary Chronic Pancreatitis	Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Hypertonia, Inability to walk, Colpocephaly, Agenesis of corpus call...	OMIM:618651
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Dysphagia, Respiratory distress	ORPHA:254875
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral atrophy, Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy, Microcephaly...	OMIM:619272
Free Sialic Acid Storage Disease	Ascites, Hepatomegaly, Splenomegaly	ORPHA:834
Thyroid Lymphoma	Dyspnea, Dysphagia, Respiratory distress	ORPHA:97285
Myotonic Dystrophy 1	Cerebral atrophy, Obsessive-compulsive trait, Dysphagia, Respiratory distress	OMIM:160900
Temtamy Syndrome	Hypertonia, Thick corpus callosum, Agenesis of corpus callosum	OMIM:218340
Septo-Optic Dysplasia Spectrum	Optic nerve hypoplasia, Septo-optic dysplasia, Hemiplegia/hemiparesis, Agenesis of corpus callosu...	ORPHA:3157
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Gait disturbance	ORPHA:1812
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
Brain-Lung-Thyroid Syndrome	Apraxia, Falls, Cavum septum pellucidum, Chorea, Incoordination, Intention tremor, Involuntary mo...	ORPHA:209905
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Apraxia, Oculomotor apraxia, Appendicular spasticity, Agenesis of corpus callosum, Partial agenes...	OMIM:620250
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Spast...	OMIM:614924
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Spastic tetraplegia, Tetraplegia, Microcephaly, Agenesis of corpus callosum	OMIM:300004
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Smith-Magenis Syndrome	Corticospinal tract hypoplasia, Impaired pain sensation, Gait disturbance, Microcephaly, Aplasia/...	ORPHA:819
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	ORPHA:585
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Motor st...	OMIM:620073
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, Pa...	ORPHA:97286
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Micr...	ORPHA:314679
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He...	OMIM:615895
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Renal Coloboma Syndrome	Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma	ORPHA:1475
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis	ORPHA:2902
Immunodeficiency 49	Spastic tetraplegia, Eosinophilia, Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Pancytopenia, Cho...	OMIM:614576
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Microcephaly, Dyspnea, Respiratory distress	ORPHA:86812
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Braddock-Carey Syndrome 1	Microcephaly, Agenesis of corpus callosum, Spastic diplegia	OMIM:619980
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Chiari malformat...	OMIM:609053
Chronic Pneumonitis Of Infancy	Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress	ORPHA:91359
Duplication Of The Pituitary Gland	Lower limb spasticity, Encephalocele, Abnormal midbrain morphology, Microcephaly, Agenesis of cor...	ORPHA:314621
Wolfram Syndrome 1	Optic atrophy, Neurogenic bladder, Pigmentary retinopathy	OMIM:222300
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Cerebral dysmyelination, Distal sensory impairment, Spasticity, Dyse...	ORPHA:139399
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Pseudo-Torch Syndrome 1	Jaundice, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:251290
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni...	OMIM:612541
Bronchopulmonary Dysplasia	Dyspnea, Central apnea, Respiratory distress	ORPHA:70589
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corpu...	OMIM:248700
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellular...	OMIM:617303
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ...	OMIM:615994
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Hepatomegaly	OMIM:612852
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:459061
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:139471
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathic hemoly...	OMIM:274150
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Abnormal cerebellum...	OMIM:211530
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified gyral pattern,...	OMIM:615219
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Monoclonal immunoglobulin M prote...	ORPHA:33226
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:85414
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Compulsive behaviors, Agenesis of corpus callosum, Motor stereotypy	OMIM:613174
Japanese Encephalitis	Anorexia, Hyperintensity of MRI T2 signal of the spinal cord, Respiratory distress, Abnormality o...	ORPHA:79139
Radio-Tartaglia Syndrome	Gait imbalance, Tremor, Microcephaly, Ataxia, Agenesis of corpus callosum	OMIM:619312
Alfadhel Syndrome	Microcephaly, Nasal flaring, Aggressive behavior	OMIM:620655
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Microcephaly, Agitation, Motor stereotypy, Respiratory distress	ORPHA:927
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Developmental And Epileptic Encephalopathy 68	Microcephaly, Cerebral cortical atrophy, Respiratory distress	OMIM:618201
Hydrolethalus	Hydrocephalus, Absent septum pellucidum, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:252920
Acute Lung Injury	Tachypnea, Addictive alcohol use, Dyspnea, Respiratory distress	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ie	Secondary microcephaly, Pontocerebellar atrophy, Respiratory distress	OMIM:608799
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Spina bifida occulta, Small cere...	OMIM:617360
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet...	OMIM:614350
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ...	OMIM:607765
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy	OMIM:610651
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi...	OMIM:251880
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Retrocerebellar cyst, Agenesis of corpus callosum, Hypoplasia of the ...	ORPHA:1827
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress	ORPHA:45452
Isolated Exencephaly	Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:90051
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Interstitial Pneumonitis, Desquamative, Familial	Tachypnea, Respiratory distress	OMIM:263000
Mercury Poisoning	Anorexia, Dyspnea, Abnormal cerebral white matter morphology, Respiratory distress	ORPHA:330021
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Cerebral white matter atrophy, Recurrent hand flapping, Compu...	ORPHA:3008
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Dysphagia, Respiratory distress	OMIM:620375
Typhoid	Hepatomegaly, Splenomegaly	ORPHA:99745
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Thin corpus callosum, Elongated superior cerebellar peduncle, Hydrocephalus,...	OMIM:619512
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
N-Acetylglutamate Synthase Deficiency	Anorexia, Tachypnea, Aggressive behavior, Respiratory distress	OMIM:237310
Caroli Syndrome	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatome...	ORPHA:480520
Anaplastic Thyroid Carcinoma	Dyspnea, Dysphagia, Respiratory distress	ORPHA:142
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Respiratory distress, Cerebellar vermis hypoplasia, Cavum sept...	OMIM:619383
Familial Nasal Acilia	Dyspnea, Respiratory distress	ORPHA:922
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Intellectual Disability-Strabismus Syndrome	Hypoplasia of the corpus callosum, Spasticity, Gait disturbance, Microcephaly, Agenesis of corpus...	ORPHA:363528
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Microcephaly, Respiratory distress	ORPHA:261304
Moebius Syndrome	Hypoplasia of the brainstem, Dysphagia, Respiratory distress	OMIM:157900
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly	OMIM:235200
Isolated Atp Synthase Deficiency	Microcephaly, Cerebral cortical atrophy, Cerebellar atrophy, Respiratory distress	ORPHA:254913
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, Respiratory distress	OMIM:620011
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Severe Acute Respiratory Syndrome	Dyspnea, Respiratory distress	ORPHA:140896
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Desmosterolosis	Hypertonia, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Spasticity, Microcephaly, ...	ORPHA:35107
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypoplasia of the corpus callosum, Global brain atrophy, Optic nerve hypoplasia, Microcephaly, Ag...	OMIM:301056
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Hydrocephalus, Probst bundles, Agenesis of corpus callosum, Lateral ventric...	OMIM:612863
Curry-Jones Syndrome	Megalencephaly, Chiari type I malformation, Polymicrogyria, Lipomyelomeningocele, Hemimegalenceph...	OMIM:601707
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ...	OMIM:612301
Whim Syndrome	Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia,...	ORPHA:51636
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:235400
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Emanuel Syndrome	Cerebral atrophy, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Abnormal cerebral white...	ORPHA:96170
Holocarboxylase Synthetase Deficiency	Anorexia, Tachypnea, Respiratory distress	ORPHA:79242
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Decreased circulating IgA level, H...	OMIM:613385
Baraitser-Winter Syndrome 1	Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum	OMIM:243310
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Pediatric-Onset Graves Disease	Jaundice, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, S...	ORPHA:525731
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para...	OMIM:115310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Cerebral calcification, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal bas...	ORPHA:157
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Holoprosencephaly 14	Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebell...	OMIM:619895
Stromme Syndrome	Stillbirth, Hydrocephalus, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Microcephaly, Ag...	OMIM:243605
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Trisomy 1Q	Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:261344
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spasticity, Microce...	OMIM:616449
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly	OMIM:252900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Megalencephaly, Respiratory distress, Hydrocephalus, Neonatal ...	OMIM:616482
Odontochondrodysplasia	Death in infancy, Respiratory distress	ORPHA:166272
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly	OMIM:239200
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Progressive microcephaly, Cerebral white matter atrophy, Abnormal periventr...	ORPHA:329178
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Motor stereotypy, Agenesis of corpus callosum	ORPHA:261144
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress	ORPHA:37612
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Hypertonia, Cerebral calcification, Tetraplegia, Spasticity, Subcortical cerebr...	ORPHA:2396
Congenital Disorder Of Deglycosylation 2	Thin corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Dysphagia, Partial agenesis o...	OMIM:619775
Nizon-Isidor Syndrome	Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Agenesis of corpus c...	OMIM:618872
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebral atrophy, Global brain atrophy, Death in childhood, Respiratory distress, Cerebellar atro...	OMIM:618426
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Bruxism, Stereotypical hand wringing, Agenesis of corpus callosum	OMIM:612337
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Granuloma, Hepatospl...	ORPHA:781
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia	OMIM:613154
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Microcephaly, Holoprosencephaly, Agenesis of corpus...	OMIM:264480
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Cho...	ORPHA:171
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly	OMIM:230600
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Tachypnea, Respiratory distress	OMIM:614299
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Microcephaly, Cerebral atrophy, Respiratory distress	OMIM:250940
1Q44 Microdeletion Syndrome	Hydrocephalus, Microcephaly, Agenesis of corpus callosum	ORPHA:238769
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Neonatal death, Respiratory distress	OMIM:300219
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Abnormal erythrocyte en...	ORPHA:264580
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Tetraplegia, Cerebral hypoplasia, Microcephaly, Hypodys...	OMIM:257300
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Attention deficit hyperactivity disorder, Self-injurious behavior, Impulsivity, Agenesis of corpu...	OMIM:618929
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:612582
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Apnea, Neonatal death, Tachy...	OMIM:610921
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis	ORPHA:67
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:222700
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230500
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Avian Influenza	Myelitis, Respiratory distress, Miscarriage, Dyspnea, Tachypnea	ORPHA:454836
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Decre...	OMIM:618733
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Difficulty walking, Inability to walk, Cavum...	ORPHA:464738
Necrotizing Enterocolitis	Ascites, Leukocytosis, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Autoimmune Hepatitis	Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti...	ORPHA:2137
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo...	OMIM:620113
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Microcephaly, Agenesis of corpus callosum	OMIM:612940
Kleefstra Syndrome	Dyspnea, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Motor stereotypy, ...	ORPHA:261494
Oromandibular Dystonia	Bruxism, Dysphagia, Respiratory distress	ORPHA:93958
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress	OMIM:271225
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Hypertonia, Thin corpus callosum, Inability to walk, Spasticit...	OMIM:613457
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis	ORPHA:188
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots	OMIM:214110
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
8P Inverted Duplication/Deletion Syndrome	Hypertonia, Dandy-Walker malformation, Agenesis of corpus callosum, Spastic tetraplegia, Cerebell...	ORPHA:96092
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, ...	ORPHA:79240
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,...	ORPHA:50918
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leukocytosis, Increased T ce...	OMIM:620376
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Respiratory distress	OMIM:217980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Cerebral calcification, Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal bas...	ORPHA:228308
Gaucher Disease Type 3	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen...	ORPHA:77261
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin...	ORPHA:90041
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Lissencephaly, Respiratory distress, Cerebellar hypoplasia	ORPHA:50810
Muscular Dystrophy, Congenital, With Or Without Seizures	Dysphagia, Respiratory distress	OMIM:620166
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Whipple Disease	Mediastinal lymphadenopathy, Anemia, Splenomegaly, Hepatomegaly	ORPHA:3452
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Tetanus	Tachypnea, Dysphagia, Respiratory distress	ORPHA:3299
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Staphylococcal Necrotizing Pneumonia	Tachypnea, Addictive alcohol use, Dyspnea, Respiratory distress	ORPHA:36238
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
8P11.2 Deletion Syndrome	Spherocytosis, Splenomegaly, Hemolytic anemia	ORPHA:251066
16P13.11 Microdeletion Syndrome	Compulsive behaviors, Microcephaly, Holoprosencephaly, Agenesis of corpus callosum, Self-injuriou...	ORPHA:261236
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Hepatomegaly, Leukocytosis, Splenomegaly	ORPHA:289157
Doors Syndrome	Thrombocytosis	ORPHA:79500
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Respiratory distress	ORPHA:264675
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Hyperactivity, Dandy-Walker malformation, Microcephaly, Agenesis of c...	OMIM:619148
Bohring-Opitz Syndrome	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microcephaly, Agenesis of corpus ca...	OMIM:605039
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Basal ganglia cysts, Polymicrogyria, Intracerebral periventricular calcifications, Death in infan...	OMIM:608836
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Neurogenic bladder, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Donnai-Barrow Syndrome	Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum, Agenesis of c...	OMIM:222448
Melas	Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Gait disturba...	ORPHA:550
Primary Dystonia, Dyt4 Type	Dysphagia, Respiratory distress	ORPHA:98805
Kleefstra Syndrome Due To 9Q34 Microdeletion	Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	ORPHA:96147
Urachal Cyst	Abdominal mass, Abscess, Leukocytosis, Peritonitis	ORPHA:488
Toriello-Carey Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Abnormal corpus c...	ORPHA:3338
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemo...	ORPHA:90038
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Respiratory distress	ORPHA:411703
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Neurooculorenal Syndrome	Aqueductal stenosis, Thin corpus callosum, Hydrocephalus, Cerebellar vermis hypoplasia, Polymicro...	OMIM:620305
Shigellosis	Splenic abscess, Cholestasis, Leukocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemol...	ORPHA:810
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
21Q22.11Q22.12 Microdeletion Syndrome	Tongue thrusting, Hyperactivity, Microcephaly, Stereotypical body rocking, Agenesis of corpus cal...	ORPHA:261323
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Dyspnea, Respiratory distress	ORPHA:2759
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Compulsive behaviors, Agenesis of corpus callosum, Aggressive behavior	OMIM:309520
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Choanal Atresia	Choking episodes, Respiratory distress	ORPHA:137914
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic f...	OMIM:232220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Trichothiodystrophy	Periventricular leukomalacia, Hypertonia, Cerebral dysmyelination, Spasticity, Gait ataxia, Inten...	ORPHA:33364
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Polymicrogyria, Porencephalic cyst, Occipi...	OMIM:277170
Achondroplasia	Megalencephaly, Respiratory distress, Hydrocephalus, Death in infancy, Brain stem compression	OMIM:100800
Tetrasomy 5P	Hydrocephalus, Cerebellar hypoplasia, Respiratory distress, Pericallosal lipoma	ORPHA:3309
Apert Syndrome	Hydrocephalus, Absent septum pellucidum, Chiari malformation, Agenesis of corpus callosum	ORPHA:87
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Impaired T cell function	OMIM:201100
Cohen Syndrome	Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Hypoplasia of the corpus callosum, Semilobar holoprosencephaly, Spasticity, Microcephaly, Lobar h...	OMIM:618500
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Focal polymicrogyria, Aplasia/Hypo...	OMIM:612651
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polymicrogyria, Cerebellar vermis atrophy, Athetosis, Cerebellar atrophy, Colpocephaly, Pachygyri...	OMIM:614866
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Poor coordination	ORPHA:420794
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Respiratory distress	OMIM:123790
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect	OMIM:617319
Odontochondrodysplasia 1	Death in infancy, Respiratory distress	OMIM:184260
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Acquired Methemoglobinemia	Dyspnea, Respiratory distress	ORPHA:464453
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi...	ORPHA:348
Desmosterolosis	Hydrocephalus, Spasticity, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Partial agene...	OMIM:602398
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Bone marrow hypocellularity, Thrombocy...	ORPHA:1775
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Olivopontocerebellar hy...	ORPHA:457284
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Cerebral cortical atrophy, Partial agenesis of the corpus callosum	OMIM:234050
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum	ORPHA:261476
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Microform Holoprosencephaly	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:280200
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Microcephaly, Lobar holopro...	OMIM:610828
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dila...	ORPHA:1692
Aicardi Syndrome	Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme...	ORPHA:50
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Hyperlipoproteinemia, Type I	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Pachydermoperiostosis	Hepatomegaly, Anemia, Splenomegaly	ORPHA:2796
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Diarrhea, ...	ORPHA:139411
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor...	ORPHA:2526
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Opitz Gbbb Syndrome	Microcephaly, Cerebellar vermis hypoplasia, Dysphagia, Agenesis of corpus callosum	OMIM:300000
Marshall-Smith Syndrome	Hypoplasia of the corpus callosum, Cerebral atrophy, Death in childhood, Hydrocephalus, Optic ner...	OMIM:602535
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pachygyria, Respiratory distress	OMIM:231680
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
Stevens-Johnson Syndrome	Thrombocytopenia, Abnormality of neutrophils, Anemia, Pancreatitis	ORPHA:36426
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Respiratory distress, Hypoplasia of the corpus callosum	ORPHA:2519
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci...	ORPHA:699
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:617260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe...	ORPHA:90321
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Dyspnea, Respiratory distress	ORPHA:2707
Genitopatellar Syndrome	Microcephaly, Apnea, Agenesis of corpus callosum	ORPHA:85201
Semilobar Holoprosencephaly	Neural tube defect, Inability to walk, Oromotor apraxia, Hydrocephalus, Abnormal brainstem morpho...	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Inability to walk, Oromotor apraxia, Hydrocephalus, Abnormal brainstem morpho...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Inability to walk, Oromotor apraxia, Hydrocephalus, Abnormal brainstem morpho...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Inability to walk, Oromotor apraxia, Hydrocephalus, Abnormal brainstem morpho...	ORPHA:93924
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis, Chiari malformation, Respiratory distress	ORPHA:93259
Leukocyte Adhesion Deficiency, Type I	Rectal abscess, Leukocytosis	OMIM:116920
Adnp Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal temper tantrums, Focal white matter...	ORPHA:404448
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Hepatitis, Thrombocytop...	OMIM:615846
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Chitayat Syndrome	Respiratory distress	OMIM:617180
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:556955
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Secondary microcephaly, Polymicrogyria, Holoprosencephaly, Colpocepha...	OMIM:618820
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:565612
3-Methylglutaconic Aciduria, Type Viib	Microcephaly, Cerebral atrophy, Cerebellar atrophy, Respiratory distress	OMIM:616271
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Thakker-Donnai Syndrome	Agenesis of corpus callosum, Communicating hydrocephalus	ORPHA:1780
Reynolds Syndrome	Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia	OMIM:613471
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Hepatocellular carcinoma, Ascites, Splenomegaly...	OMIM:276700
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Cerebellar atrophy, Respiratory distress	OMIM:620306
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Monosomy 13Q34	Microcephaly, Agenesis of corpus callosum	ORPHA:96168
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Self-inju...	ORPHA:847
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Death in childhood, Dysphagia, Respiratory distress	OMIM:620278
Bohring-Opitz Syndrome	Hypoplasia of the corpus callosum, Inability to walk, Dandy-Walker malformation, Microcephaly, Lo...	ORPHA:97297
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Cerebellar hypoplasia, Agenesis of corpus callosum	ORPHA:93317
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Syringomyelia, Agenesis of corpus callosum	ORPHA:314585
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy	OMIM:240300
Acromelic Frontonasal Dysostosis	Hypoplasia of the corpus callosum, Encephalocele, Cavum septum pellucidum, Optic nerve hypoplasia...	OMIM:603671
Apert Syndrome	Megalencephaly, Chiari type I malformation, Hydrocephalus, Agenesis of corpus callosum, Cerebella...	OMIM:101200
Sotos Syndrome	Attention deficit hyperactivity disorder, Aggressive behavior, Partial agenesis of the corpus cal...	OMIM:117550
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Dysphagia, Respiratory distress	ORPHA:98915
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Abnormal globus pallidus morphology, Respiratory distress	OMIM:251000
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Hepatic fibrosis, Porta...	ORPHA:731
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Infantile Krabbe Disease	Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Ab...	ORPHA:206436
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Apnea, Respiratory distress	ORPHA:314655
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Abnormal neuron branching, Respiratory distress	ORPHA:367
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Aicardi Syndrome	Cavum septum pellucidum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Polymicrogyria,...	OMIM:304050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Respiratory distress, Dandy-Walker...	OMIM:300968
Biotinidase Deficiency	Respiratory distress, Apnea, Myelopathy, Hyperventilation	ORPHA:79241
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Respiratory distress	OMIM:151210
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Orofaciodigital Syndrome I	Cerebral atrophy, Cerebellar cyst, Abnormal cortical gyration, Hydrocephalus, Porencephalic cyst,...	OMIM:311200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Sensory axonal neuropathy, Abnormality of periph...	ORPHA:466768
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Orofaciodigital Syndrome Type 5	Microcephaly, Agenesis of corpus callosum	ORPHA:2919
Mogs-Cdg	Hypoplasia of the corpus callosum, Apnea, Hypoventilation, Respiratory distress	ORPHA:79330
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis	ORPHA:342
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Microcephaly, Agenesis of corpus callosum	ORPHA:250989
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla...	OMIM:301043
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Respiratory distress, Head-banging, Compulsive behaviors, Cerebral cort...	ORPHA:177907
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callo...	OMIM:206900
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Cockayne Syndrome	Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Peripheral axonal neuropat...	ORPHA:191
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Nasolacrimal Duct Cyst	Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions	ORPHA:141083
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Pigmentary retinopathy, Brushfield spots	OMIM:214100
Histiocytoid Cardiomyopathy	Hydrocephalus, Hemiplegia, Cerebellar malformation, Agenesis of corpus callosum	ORPHA:137675
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cerebellar cyst, Agenesis of corpus callosum	OMIM:613091
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Impulsivity, Apnea, Dysphagia, Aggress...	ORPHA:2131
Biotinidase Deficiency	Hepatomegaly, Splenomegaly	OMIM:253260
Pfeiffer Syndrome Type 3	Chiari malformation, Aqueductal stenosis, Respiratory distress	ORPHA:93260
Fryns Syndrome	Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:2059
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum, Cerebellar hyp...	OMIM:236100
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Agenesis of corpus callosum	OMIM:605376
Craniofaciofrontodigital Syndrome	Hyperintensity of cerebral white matter on MRI, Dyspnea, Respiratory distress	ORPHA:363705
Marden-Walker Syndrome	Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal cerebel...	ORPHA:2461
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes...	ORPHA:98914
Congenital Myasthenic Syndrome	Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes...	ORPHA:590
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Peripheral demyelination, R...	ORPHA:79282
Phace Syndrome	Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hemiplegia/hemiparesis, Agenesis...	ORPHA:42775
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:610717
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum, Overfriendliness	OMIM:174300
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Opitz Gbbb Syndrome	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Abnormal corpus callosum morphology...	ORPHA:2745
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion...	OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypoplasia of the corpus callosum, Stillbirth, Abnormal cortical gyration, Death in childhood, Hy...	OMIM:210710
Orofaciodigital Syndrome Xiv	Hypoplasia of the corpus callosum, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar v...	OMIM:615948
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:580
Mandibulofacial Dysostosis, Guion-Almeida Type	Microcephaly, Progressive microcephaly, Respiratory distress	OMIM:610536
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome...	ORPHA:77293
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Segmental peripheral demyelination/rem...	ORPHA:255210
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral myelination, Retinal atro...	OMIM:216400
Meckel Syndrome, Type 1	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dandy-Walker malfor...	OMIM:249000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:309801
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Tachypnea, Respiratory distress	OMIM:610978
Paroxysmal Nocturnal Hemoglobinuria	Jaundice, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocy...	ORPHA:447
Congenital Disorder Of Glycosylation, Type Ig	Progressive microcephaly, Respiratory distress	OMIM:607143
Diaphanospondylodysostosis	Polymicrogyria, Respiratory distress	OMIM:608022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Optic nerve hypoplasia, Spina bi...	ORPHA:508498
Coffin-Siris Syndrome	Hyperactivity, Dandy-Walker malformation, Microcephaly, Simplified gyral pattern, Agenesis of cor...	ORPHA:1465
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil...	ORPHA:186
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen...	ORPHA:355
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Hereditary Angioedema Type 1	Dyspnea, Dysphagia, Respiratory distress	ORPHA:100050
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Respiratory distress	OMIM:183900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Koolen-De Vries Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Dural ectasia, Chiari type I malformation, Hydrocephalus, Spin...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Dural ectasia, Chiari type I malformation, Hydrocephalus, Spin...	ORPHA:363958
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Abnormal basal ganglia MRI signal intensity, Respiratory distress, Microcephaly...	ORPHA:17
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Age...	OMIM:615465
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Difficulty walking, Agenesis of corpus callosum	OMIM:618748
Vici Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Schizencephaly, Dysphagia, Agenesis of corpus callosum	OMIM:242840
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly...	ORPHA:2072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Microcephaly, Respiratory distress	ORPHA:438216
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Splenomegaly, Hemolytic anemia	ORPHA:95159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Tachypnea, Episodic tachypnea, Respiratory distress	ORPHA:26793
Kniest Dysplasia	Respiratory distress	OMIM:156550
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Atte...	OMIM:227646
Wolf-Hirschhorn Syndrome	Microcephaly, Ataxia, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:280
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Spina bifida occulta, Cerebral cortical atrophy, Microcephaly, Agenes...	OMIM:151050
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc pallor, Axonal loss	ORPHA:404454
Neu-Laxova Syndrome 1	Stillbirth, Hydranencephaly, Lissencephaly, Dandy-Walker malformation, Spina bifida, Neonatal dea...	OMIM:256520
Jacobsen Syndrome	Cerebral atrophy, Death in infancy, Spina bifida, Pachygyria, Agenesis of corpus callosum, Attent...	ORPHA:2308
Orofaciodigital Syndrome Type 1	Dandy-Walker malformation, Tremor, Ataxia, Agenesis of corpus callosum	ORPHA:2750
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Ascites, At...	OMIM:277900
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Williams Syndrome	Gait imbalance, Spina bifida occulta, Abnormality of extrapyramidal motor function, Spasticity, T...	ORPHA:904
Neuroblastoma	Respiratory distress, Spinal cord compression	ORPHA:635
Toriello-Lacassie-Droste Syndrome	Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:3339
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217085
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystro...	ORPHA:2556
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Bile duct proliferation, Prolonged neonatal jaundice, Thrombocytopenia, Spl...	OMIM:619525
Hardikar Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Intrahepatic bile duct dilatation, Portal inflamm...	OMIM:301068
Orofaciodigital Syndrome Type 14	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Dandy-Walker malformation, Open operc...	ORPHA:434179
Smith-Lemli-Opitz Syndrome	Hypoplasia of the corpus callosum, Global brain atrophy, Chiari type I malformation, Hydrocephalu...	OMIM:270400
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Cortical dysplasia, Impulsivity, Cortical tubers, Noncommuni...	ORPHA:805
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Inability to walk, Impaired pain sensation, Optic nerve hypopl...	ORPHA:453504
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Respiratory distress	ORPHA:1555
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypoplasia of the corpus callosum, Inability to walk, Impaired pain sensation, Optic nerve hypopl...	ORPHA:352665
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan...	ORPHA:99827
Camurati-Engelmann Disease	Anemia, Hepatomegaly, Leukopenia, Splenomegaly	ORPHA:1328
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217093
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Spinal neurofibroma, Pheochromocytoma, Multiple c...	ORPHA:636
Opitz-Kaveggia Syndrome	Hydrocephalus, Spasticity, Partial agenesis of the corpus callosum	OMIM:305450
Mucopolysaccharidosis Type 3	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:581
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy	ORPHA:14
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Sp...	OMIM:181000
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Sensory axonal neuropathy, Peripheral axonal neuropathy, Retinal pigment epithelial mottling	OMIM:607459
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Death in infancy	OMIM:617478
Ramos-Arroyo Syndrome	Primary microcephaly, Self-mutilation, Respiratory distress	ORPHA:1051
Cryptococcosis	Respiratory distress, Hydrocephalus, Dyspnea, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Truncal ataxia, Spasticity, Tremor, Microcephaly, Ataxia, Simplifie...	OMIM:220111
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress	OMIM:115197
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia	ORPHA:235
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the corpus callosum, Hypertonia, Agenesis of corpus callosum	OMIM:619194
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral myelination, Abnormal aud...	OMIM:133540
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:304110
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Mgat2-Cdg	Progressive microcephaly, Stereotypical hand wringing, Respiratory distress	ORPHA:79329
Lujo Hemorrhagic Fever	Cerebral edema, Dysphagia, Respiratory distress	ORPHA:319213
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Absent septum pellucidum, Holoprosencephaly, Agenesis of corpu...	OMIM:613884
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Respiratory distress, Microcephaly, Impaired oral bolus formation, Imp...	OMIM:615273
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Apnea, Partial agenesis of the corpus callosum, Spina bifida occulta	OMIM:300373
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin	OMIM:234200
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e...	ORPHA:71505
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum	ORPHA:264450
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Hepatic steat...	OMIM:269700
Rodrigues Blindness	Nasal flaring	OMIM:268320
Surfactant Metabolism Dysfunction, Pulmonary, 2	Tachypnea, Dyspnea, Respiratory distress	OMIM:610913
Monosomy 22Q13.3	Cerebellar cortical atrophy, Hair-pulling, Hyperactivity, Agenesis of corpus callosum, Bruxism	ORPHA:48652
Coffin-Siris Syndrome 4	Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:614609
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Retinal vasculitis, Papi...	ORPHA:91500
Gabriele-De Vries Syndrome	Hypoplasia of the corpus callosum, Tremor, Waddling gait, Abnormal cerebral white matter morpholo...	ORPHA:506358
Osteogenesis Imperfecta, Type X	Death in childhood, Respiratory distress	OMIM:613848
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Respiratory distress, Hyperactivity, Impulsivity, Spina bifida, Microcephal...	OMIM:180849
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal cerebellum morphology, Optic nerve hypoplasia, Agenesis of corpus callosum	ORPHA:226307
Ethylene Glycol Poisoning	Addictive alcohol use, Cerebral edema, Abnormal pattern of respiration, Tachypnea, Episodic respi...	ORPHA:31826
Chilton-Okur-Chung Neurodevelopmental Syndrome	Limb hypertonia, Cerebellar vermis hypoplasia, Septo-optic dysplasia, Communicating hydrocephalus...	OMIM:619841
Oculopharyngodistal Myopathy 1	Abnormal cerebral white matter morphology, Dysphagia, Respiratory distress	OMIM:164310
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Cocaine Intoxication	Ischemic stroke, Agitation, Respiratory distress, Tachypnea, Hyperventilation	ORPHA:90068
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Anencephaly, Dandy-Walker malformation, Agenesis of corpu...	OMIM:236680
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thin corpus callosum, Tethered cord, Partial agenesis of the corpus callosum, Spina bifida	OMIM:619480
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Respiratory distress	ORPHA:537
Esophageal Atresia	Episodic respiratory distress, Dysphagia, Oral aversion, Respiratory distress	ORPHA:1199
Fryns Syndrome	Stillbirth, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of olfactory tract...	OMIM:229850
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Cranium bifidum occultum, Agenesis of corpus callosum	ORPHA:306542
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus	OMIM:618188
Wiedemann-Rautenstrauch Syndrome	Hypertonia, Chiari type I malformation, Limb hypertonia, Hydrocephalus, Truncal ataxia, Spasticit...	ORPHA:3455
Congenital Myopathy 22B, Severe Fetal	Leukoencephalopathy, Respiratory distress	OMIM:620369
Chromosome 1P36 Deletion Syndrome, Distal	Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Polyphagia, Cerebral cortical a...	OMIM:607872
Holoprosencephaly 2	Semilobar holoprosencephaly, Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Agenesis ...	OMIM:157170
Farber Disease	Respiratory distress	ORPHA:333
Monosomy 9P	Microcephaly, Hypertonia, Agenesis of corpus callosum	ORPHA:261112
Bacterial Toxic-Shock Syndrome	Tachypnea, Respiratory distress	ORPHA:36234
Radio-Renal Syndrome	Dyspnea, Respiratory distress	ORPHA:3015
Alstrom Syndrome	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy	OMIM:203800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress	ORPHA:308552
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Nijmegen Breakage Syndrome	Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo	OMIM:251260
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Blau Syndrome	Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Microgastria-Limb Reduction Defect Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Agenesis of corpus callosum	ORPHA:2538
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Wiedemann-Rautenstrauch Syndrome	Hypertonia, Hydrocephalus, Truncal ataxia, Dandy-Walker malformation, Intention tremor, Agenesis ...	OMIM:264090
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Holoprosencephaly 9	Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydrocephalus, Optic ...	OMIM:610829
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum	ORPHA:2658
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Wolf-Hirschhorn Syndrome	Cavum septum pellucidum, Hydrocephalus, Tethered cord, Microcephaly, Periventricular cysts, Agene...	OMIM:194190
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hypoplasia of the corpus callosum, Secondary microcephaly, Enlarged cerebellum, Inability to walk...	ORPHA:261537
Arterial Tortuosity Syndrome	Dyspnea, Respiratory distress	ORPHA:3342
Acrocallosal Syndrome	Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:200990
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Apnea, Respiratory distress	OMIM:261740
Schinzel-Giedion Syndrome	Hypoplasia of the corpus callosum, Neural tube defect, Chiari type I malformation, Respiratory di...	ORPHA:798
Meier-Gorlin Syndrome 1	Microcephaly, Death in infancy, Respiratory distress	OMIM:224690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Respiratory distress	ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency	Orthopnea, Exertional dyspnea, Dysphagia, Respiratory distress	ORPHA:365
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Listeriosis	Miscarriage, Abnormal brainstem MRI signal intensity, Respiratory distress	ORPHA:533
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior, Aggr...	ORPHA:466943
1P36 Deletion Syndrome	Polyphagia, Cerebral cortical atrophy, Microcephaly, Dysphagia, Agenesis of corpus callosum, Moto...	ORPHA:1606
8Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Secondary microcephaly, Global brain atrophy, Spina bifida occ...	ORPHA:508488
Yunis-Varon Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Cerebell...	ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Respiratory distress, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Cystinosis, Nephropathic	Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial m...	OMIM:219800
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Primary microcephaly, Enlarged cerebellum, Broad-based gait, Cerebe...	ORPHA:261552
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, Respiratory distress	OMIM:617156
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Subcortical cerebral atrophy, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	ORPHA:2273
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Diffuse leukoencephalopathy	OMIM:256810
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Holoprosencephaly, Agenesis of corpus callosum, Ab...	ORPHA:95494
Ring Chromosome 13 Syndrome	Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Baller-Gerold Syndrome	Spina bifida occulta, Hydrocephalus, Optic nerve hypoplasia, Polymicrogyria, Agenesis of corpus c...	OMIM:218600
Arboleda-Tham Syndrome	Respiratory distress, Microcephaly, Dysphagia, Motor stereotypy, Primary microcephaly	OMIM:616268
Simpson-Golabi-Behmel Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Death in infancy	ORPHA:373
Campomelic Dysplasia	Respiratory distress, Hydrocephalus, Spina bifida, Apnea, Spinal dysraphism	OMIM:114290
Atypical Werner Syndrome	Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Patchy hypo- and ...	ORPHA:79474
Degcags Syndrome	Microcephaly, Choking episodes, Agenesis of corpus callosum, Oral-pharyngeal dysphagia	OMIM:619488
Ear-Patella-Short Stature Syndrome	Microcephaly, Dyspnea, Respiratory distress	ORPHA:2554
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Coffin-Siris Syndrome 1	Hypoplasia of the corpus callosum, Spina bifida occulta, Dandy-Walker malformation, Gait ataxia, ...	OMIM:135900
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Enlarged cerebellum, Focal white matter lesions, Inability to ...	ORPHA:2152
Focal Dermal Hypoplasia	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Microcephaly, Agenesis of corpus callosum,...	OMIM:305600
Gitelman Syndrome	Polydipsia, Cerebral calcification, Salt craving, Respiratory distress	ORPHA:358
Hemorrhagic Fever-Renal Syndrome	Agitation, Dyspnea, Respiratory distress	ORPHA:340
Proteus Syndrome	Irregular hyperpigmentation, Retinal hamartoma, Retinal nonattachment, Multiple cafe-au-lait spot...	ORPHA:744
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Respiratory distress, Cerebellar v...	ORPHA:480880
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Cleidocranial Dysplasia 1	Syringomyelia, Respiratory distress	OMIM:119600
Coccidioidomycosis	Hydrocephalus, Eosinophilia, Respiratory distress	ORPHA:228123
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Nocardiosis	Anorexia, Dyspnea, Respiratory distress	ORPHA:31204
Alagille Syndrome 1	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:118450
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions	ORPHA:1329
Genitopatellar Syndrome	Thin corpus callosum, Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum	OMIM:606170
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Abnormal corp...	OMIM:235730
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Femoral-Facial Syndrome	Agenesis of corpus callosum, Encephalocele, Spina bifida	OMIM:134780
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Aortic Arch Interruption	Tachypnea, Exertional dyspnea, Respiratory distress	ORPHA:2299
Congenital Tracheomalacia	Apnea, Dyspnea, Intercostal retractions	ORPHA:95430
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93271
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Scimitar Syndrome	Respiratory distress	ORPHA:185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Microcephaly, Diffuse cerebral atrophy, Respiratory distress	ORPHA:83617
Severe Generalized Junctional Epidermolysis Bullosa	Dyspnea, Respiratory distress	ORPHA:79404
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Peters-Plus Syndrome	Hydrocephalus, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum	OMIM:261540
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Abnormal septum pellucidum morphology, Cerebral white matter atrophy, Cereb...	ORPHA:99646
Congenital Tracheal Stenosis	Dyspnea, Respiratory distress	ORPHA:141127
Dermatomyositis	Lymphoma, Gastrointestinal stroma tumor, Lung adenocarcinoma, Dysphagia, Breast carcinoma, Neoplasm	ORPHA:221
Stüve-Wiedemann Syndrome	Apnea, Respiratory distress	ORPHA:3206
Townes-Brocks Syndrome	Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Yunis-Varon Syndrome	Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hypoplasia of the frontal lobes,...	OMIM:216340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Respiratory distress	ORPHA:95455
Leptospirosis	Anorexia, Respiratory distress	ORPHA:509
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Microcephaly, Respiratory distress	OMIM:614748
Plague	Anorexia, Respiratory distress	ORPHA:707
Craniofacial Microsomia 1	Hydrocephalus, Occipital encephalocele, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Kallmann Syndrome	Paraplegia, Tremor, Ataxia, Gait disturbance	ORPHA:478
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Eisenmenger Syndrome	Exertional dyspnea, Respiratory distress	ORPHA:97214
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Encephalomalacia, Respiratory distress	ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly	Exertional dyspnea, Apneic episodes in infancy, Paroxysmal dyspnea, Respiratory distress	ORPHA:99125
Ulbright-Hodes Syndrome	Respiratory distress	ORPHA:3404
Pmm2-Cdg	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Respiratory distress, Cerebellar hypoplasia	ORPHA:79318
Alström Syndrome	Polyphagia, Respiratory distress	ORPHA:64
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

Histopathology

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

There is no histopathology data for Dcc

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

IMPC related publications

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

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dcc MGI:94869

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Immunophenotyping

X-ray

Embryo LacZ

Immunophenotyping

Gross Pathology and Tissue Collection

X-ray

MicroCT E14.5-E15.5

X-ray

X-ray

Eye Morphology

Human diseases caused by Dcc mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data