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Gene: Rabgap1 MGI:2385139

Gene Summary

Name:

RAB GTPase activating protein 1

Synonyms:

Gapcena

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal retina vasculature morphology	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.90×10^-10
increased circulating lipase level	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.89×10^-07
abnormal optic disk morphology	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.62×10^-06
decreased locomotor activity	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.09×10^-07
short tibia	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.43×10^-05
enlarged urinary bladder	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
small spleen	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
improved glucose tolerance	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.55×10^-07
enlarged spleen	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
abnormal retina morphology	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.27×10^-05
small testis	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
abnormal retina blood vessel morphology	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.06×10^-05
polycystic kidney	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	0.00
decreased prepulse inhibition	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.66×10^-06
hydrocephaly	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased total retina thickness	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.34×10^-06
decreased grip strength	Rabgap1^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	4.96×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Rabgap1 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 Rabgap1 (0 diseases)
Human diseases predicted to be associated with Rabgap1 (1449 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rabgap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Optic Atrophy 2	Dysdiadochokinesis, Optic atrophy, Absent Achilles reflex	OMIM:311050
Ribose 5-Phosphate Isomerase Deficiency	Ataxia, Optic atrophy, Increased level of ribose in CSF, Increased level of D-threitol in CSF, De...	OMIM:608611
Retinitis Pigmentosa 42	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu...	OMIM:612943
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance, Optic atrophy	OMIM:311100
Ceroid Lipofuscinosis, Neuronal, 9	Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy	OMIM:609055
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Gait disturbance, Loss of amb...	OMIM:615043
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Optic atrophy	OMIM:108650
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Areflexia of lower limbs, Optic atrophy	OMIM:165199
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Ventriculomegaly, Chorioretinal coloboma	ORPHA:2732
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Overlapping toe, Inability to walk, Optic atrophy	OMIM:618572
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes...	OMIM:614296
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Pes cavus, Optic disc pallor, Hammertoe, Optic atrophy	OMIM:618511
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa...	OMIM:145001
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Retinopathy, Gait disturbance	ORPHA:26
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Spastic Paraplegia 57, Autosomal Recessive	Loss of ambulation, Optic atrophy	OMIM:615658
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance	OMIM:616859
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Autosomal Recessive Spastic Paraplegia Type 45	Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S...	ORPHA:320396
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Optic atrophy, Gait ataxia, Flexion contracture of toe, Ventriculomegaly	OMIM:619323
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Difficulty walking, Leg muscle st...	ORPHA:320360
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt...	OMIM:602271
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels	OMIM:614504
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy	ORPHA:2253
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia	OMIM:618970
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia	ORPHA:2572
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly	OMIM:615938
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of peripheral n...	ORPHA:431329
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Postaxial hand polydactyly...	OMIM:615630
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Optic atrophy	OMIM:165300
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Autosomal Recessive Spastic Paraplegia Type 74	Peripheral axonal neuropathy, Optic atrophy, Decreased Achilles reflex, Difficulty walking, Dista...	ORPHA:468661
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hepatomegaly, Hydrocephalus, Optic atrophy, Small hand	OMIM:300884
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith...	OMIM:619389
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Optic atrophy, Hydrocephalus	OMIM:619470
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Areflexia of lower limbs, Gait d...	OMIM:311070
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leukoencephalopathy With Vanishing White Matter 4	Unsteady gait, Optic atrophy, Ventriculomegaly	OMIM:620314
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy	OMIM:616370
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance	ORPHA:85335
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Gl...	ORPHA:411590
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Inability to walk, Ankle clonus, Optic atrophy	OMIM:618768
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Optic atrophy, Truncal ataxia	OMIM:611726
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction, Increased CSF protein concentration	OMIM:124950
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Hypoglycemia, Rhizomelia, Sandal gap, Hypoplasia ...	OMIM:607143
Nescav Syndrome	Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Talipes equinovarus	OMIM:614255
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly	OMIM:615937
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	ORPHA:324416
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Camos Syndrome	Optic atrophy, Ataxia	ORPHA:83472
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Inability to...	OMIM:613155
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormal foot morphology, Hydrocephalus, Inability to...	ORPHA:99947
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Inability to walk, Optic atrophy, Hip dysplasia, Pes cavus, Ventriculomegaly	OMIM:619701
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrop...	OMIM:204200
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus	OMIM:618174
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia	ORPHA:1186
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance	ORPHA:3151
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia	ORPHA:104
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus, Optic atrophy, Spastic gait	OMIM:613162
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Optic atrophy, Gait disturbance, Retinal dysplasia, Ventr...	ORPHA:272
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy	OMIM:617830
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly	ORPHA:2185
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Optic atrophy, Spastic gait	OMIM:619052
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Diencephalic Syndrome	Large hands, Hydrocephalus, Optic atrophy	ORPHA:1672
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation	OMIM:607091
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Femoral-Facial Syndrome	Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of...	ORPHA:1988
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Thrombocytopenia	OMIM:166990
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Optic atrophy, Short distal phalanx of finger	ORPHA:2787
Merrf	Optic atrophy, Ataxia	ORPHA:551
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Pes cavus, Optic atrophy, Ataxia	ORPHA:1171
Muscle-Eye-Brain Disease	Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic atrophy, Ga...	ORPHA:588
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Ataxia	ORPHA:99966
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Talipes equinovarus, Difficulty walki...	OMIM:615035
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Leber Optic Atrophy And Dystonia	Optic atrophy, Increased CSF lactate, Bradykinesia, Athetosis, Leber optic atrophy	OMIM:500001
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy	OMIM:271930
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Optic atrophy, Hydrocephalus	ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Elevated circulating creatine kinase c...	OMIM:615181
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Hydrocephalus, Jaundice, Lym...	ORPHA:858
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Decreased CSF copper concentration, Short tibia, Abnormal circulating ceruloplasmin ...	OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration, Ventriculomegaly	OMIM:613151
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased Achilles reflex	OMIM:613672
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Renal cyst	OMIM:174050
Leber Congenital Amaurosis 14	Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra...	ORPHA:254886
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Optic atrophy, Genu valgum, Hypocalce...	ORPHA:53
Lamb-Shaffer Syndrome	Pes planus, Overlapping toe, Long fingers, Optic atrophy, Clinodactyly, Long hallux	OMIM:616803
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Optic atrophy	OMIM:620312
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, ...	OMIM:618241
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Shuffling gait, Pes cavus, Ventriculomegaly, Adducted thumb	OMIM:303350
Spinocerebellar Ataxia 7	Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop...	OMIM:164500
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Abnormal foot morphology	ORPHA:397951
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Spastic Paraplegia 2, X-Linked	Optic atrophy, Dysmetria, Loss of ambulation, Pes cavus, Spastic gait	OMIM:312920
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Optic atrophy	OMIM:300928
Optic Pathway Glioma	Papilledema, Hydrocephalus, Neurofibroma, Optic atrophy, Fatigable weakness	ORPHA:2086
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Lethargy, ...	ORPHA:26792
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia	OMIM:619425
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr...	ORPHA:644
Optic Atrophy 6	Optic atrophy	OMIM:258500
Sclerosteosis	Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of...	ORPHA:3152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Optic atroph...	OMIM:613154
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Hydrocephalus, Postaxial hand polydactyly, Chorioret...	OMIM:220220
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Optic atrophy, Absent Achilles re...	ORPHA:1215
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, Colpocephaly, Incre...	OMIM:616034
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Peripheral axonal neuropathy, Optic atrophy, Ataxia	OMIM:617207
Edinburgh Malformation Syndrome	Hydrocephalus, Neonatal hyperbilirubinemia, Jaundice	OMIM:129850
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy	OMIM:309555
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Micrognathia, Optic atrophy, Talipes equinovarus, Retinopathy	OMIM:616171
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fibrosis, ...	ORPHA:466794
Neuroectodermal Melanolysosomal Disease	Ataxia, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of ...	ORPHA:33445
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Choreoathetosis, R...	OMIM:300438
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu...	OMIM:608799
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Ataxia, Broad hallux, Splenomegaly, Hydrocephalus, Hypoplastic ve...	OMIM:272200
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Knee flexion contracture	OMIM:619303
Aceruloplasminemia	Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac...	OMIM:604290
Craniodiaphyseal Dysplasia	Optic atrophy, Diaphyseal thickening	ORPHA:1513
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia	OMIM:263210
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Spastic Paraplegia 82, Autosomal Recessive	Optic atrophy	OMIM:618770
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytop...	ORPHA:49827
3-Methylglutaconic Aciduria, Type Iii	Optic atrophy, Ataxia	OMIM:258501
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Inability to walk, Optic disc pallor, Optic atrophy	OMIM:617086
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Gait ataxia	OMIM:620221
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia	OMIM:616732
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Diabetes mellitus, Decreased/absent ankle reflexes, Optic atrophy, Progressive cerebellar ataxia,...	ORPHA:1177
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Coach Syndrome 2	Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating creatinine concentration, Portal...	OMIM:619111
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking...	ORPHA:280234
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe...	ORPHA:314588
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Hydrocep...	OMIM:259710
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Pes planus, Dysmetria, Progressi...	ORPHA:363429
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg...	OMIM:249270
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Abnormal retinal morphology, Hypoplastic spleen, Adducted ...	ORPHA:89844
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono...	OMIM:610743
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Dysmetria, Areflexia of lower limbs, Loss of ambulation, Hyporeflexia of lower lim...	OMIM:616680
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Subependymal cysts, Hyperalaninemia	OMIM:245349
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria	OMIM:605259
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Choro...	OMIM:603671
L-2-Hydroxyglutaric Aciduria	L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia	OMIM:236792
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Attenuation of retinal blood vessels	OMIM:617082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydroce...	OMIM:613153
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Nephronophthisis 18	Hydrocephalus, Portal fibrosis, Retinitis, Cholestasis	OMIM:615862
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites	OMIM:614091
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic atrophy, Difficu...	ORPHA:401768
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b...	OMIM:608940
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Hydrocephalus, Spleno...	OMIM:259700
Sarcosinemia	Peroneal muscle weakness, Hypersarcosinemia, Optic atrophy, Ataxia	ORPHA:3129
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate va...	ORPHA:2237
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Aqueductal stenosis, Absent thumb, Absent radius, Humeroradial synostos...	OMIM:251230
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, I...	OMIM:245200
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V...	OMIM:236700
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity, Pes cavus	ORPHA:99014
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Short distal...	ORPHA:1914
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Neu...	ORPHA:79312
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow...	ORPHA:168549
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic aciduria, Cardio...	OMIM:608836
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of the kidney, Cholangitis, Portal h...	ORPHA:480520
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Lissencephaly 8	Occipital encephalocele, Elevated circulating creatine kinase concentration, Optic atrophy, Talip...	OMIM:617255
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Facial dipl...	OMIM:617302
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Optic atrophy	OMIM:274270
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Behr Syndrome	Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysm...	OMIM:210000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Ataxia	ORPHA:329314
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus...	ORPHA:380
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Hsd10 Disease	Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Ventriculomegaly	ORPHA:391417
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Broad hallux phalanx, Hepatomegaly, Splenomegaly, Hydrocepha...	ORPHA:585
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hip dislocation, Talipes equinovarus, Hip dysplasia	ORPHA:250994
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,...	OMIM:175700
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Optic Atrophy 1	Optic atrophy, Ataxia	OMIM:165500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,...	OMIM:617056
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Ab...	ORPHA:457205
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Infantile Cerebellar-Retinal Degeneration	Athetosis, Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614559
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Facial diplegia, Optic atrophy, Diaphyseal sclerosis	OMIM:122860
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Di...	OMIM:263520
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Talipes, Micrognathia, Optic atrophy, Ventriculomegaly	ORPHA:1495
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoa...	ORPHA:27
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Ataxia, Optic atrophy, Lethargy, Ventriculomegaly	OMIM:618228
Prune1-Related Neurological Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Inability to walk, Optic atroph...	ORPHA:544469
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Leth...	ORPHA:289916
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Ataxia, Micrognathia, Coxa valga, Hydrocephalus, Optic atrophy, Colpocephaly,...	OMIM:619833
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Ataxia, Elevated ...	OMIM:615673
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia	OMIM:616204
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hydrocephalus, Splenomegaly, Hepatosplenomegaly, CS...	OMIM:610333
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro...	OMIM:609033
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Splenomegaly, Jaundice, Cryptorchidis...	OMIM:614866
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ...	OMIM:598500
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E...	ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, H...	OMIM:620157
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Calf muscle pseudohypertro...	ORPHA:370959
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Multiple Mitochondrial Dysfunctions Syndrome 6	Inability to walk, Ataxia, Optic atrophy, Dysmetria	OMIM:617954
Marinesco-Sjögren Syndrome	Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpholo...	ORPHA:559
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep...	OMIM:613390
Peroxisome Biogenesis Disorder 8B	Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce...	OMIM:614877
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, ...	ORPHA:899
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy	ORPHA:178377
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Hyperal...	ORPHA:254881
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Leukodystrophy, Hypomyelinating, 21	Athetosis, Optic atrophy, Ataxia	OMIM:619310
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
Abetalipoproteinemia	Abetalipoproteinemia, Ataxia, Acanthocytosis, Retinopathy, Peripheral demyelination, Retinal dege...	OMIM:200100
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Opti...	ORPHA:791
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Hypospadias, Renal cyst	OMIM:231060
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Ankle swelling, ...	ORPHA:448237
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Inability to walk, Optic atrophy, Absent Achilles reflex, Ankle clonus, Pes ca...	OMIM:609541
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of...	ORPHA:363417
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy	ORPHA:254343
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Hyperuricemia, Coar...	ORPHA:2801
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor, Pancreatitis, Increased CSF lactate	OMIM:618230
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Overlapping toe, Tapered finger, Optic atrophy, Gait ataxia, Hip dysplasia, Bil...	OMIM:617807
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Trunca...	OMIM:601338
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Hepatospl...	ORPHA:93400
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P...	OMIM:607115
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Cherry red spot of the macula, Spina bifida occulta, Ataxia, Optic disc pallor	OMIM:615281
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Attenuation of retin...	OMIM:617166
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Increased CSF lactat...	OMIM:615838
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait	OMIM:617964
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Choreoathetosis, Clinodactyly of the 5th finger, Pes cavus, Retinopathy	OMIM:619422
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Optic atrophy, Increased CSF lactate	OMIM:618238
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Postaxial polydac...	OMIM:614576
Infantile Refsum Disease	Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentrati...	ORPHA:772
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia	OMIM:615085
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Developmental And Epileptic Encephalopathy 61	Loss of ambulation, Optic atrophy	OMIM:617933
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia	ORPHA:1532
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Temple Syndrome	Hydrocephalus, Small hand, Short foot, Recurrent hypoglycemia, Type II diabetes mellitus, Clinoda...	ORPHA:254516
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Trisomy X	Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia	ORPHA:3375
Spastic Paraplegia 5A, Autosomal Recessive	Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Pes cavus, Spastic...	OMIM:270800
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Infantile Sialic Acid Storage Disease	Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal foot morphology, Hydrocephalus, Vacuolated ...	OMIM:269920
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Micrognathia, Hydrocephalus, Chorioretinal coloboma, Dandy-Walker malformation	ORPHA:163961
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Optic atrophy, Dysmetria, Gait ataxia	OMIM:617810
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Retinal neovascularization, Micrognathia	OMIM:619074
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy...	OMIM:619260
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Ataxia, Optic atrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Difficulty walking	OMIM:612319
Adams-Oliver Syndrome 2	Micrognathia, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Absent distal phalanges...	OMIM:614219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Micromelia, Abnormal thumb morphology, Optic atrop...	ORPHA:1597
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia	OMIM:605231
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri...	OMIM:612674
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Patellar subluxation, Optic atrophy, Genu valgum	OMIM:248000
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria	OMIM:203450
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Griscelli Syndrome	Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Jau...	ORPHA:381
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy, Hand polydactyly, Foot polydacty...	ORPHA:60040
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste...	OMIM:620076
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Hydro...	ORPHA:59315
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Recurrent urinary...	OMIM:615559
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Cln3 Disease	Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, Pigmentary r...	ORPHA:228346
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Broad hallux, Elevated circulating hexacosanoic acid concentration, Optic atro...	OMIM:614388
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Optic atrophy, Ataxia	ORPHA:2289
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:1173
Dpm1-Cdg	Hepatic steatosis, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Sand...	ORPHA:79322
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Hydrocephalus, Metaphyseal widening, Optic atrophy, Diaphyseal sclerosi...	OMIM:618476
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, ...	OMIM:602361
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy	OMIM:616632
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa...	OMIM:605282
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acalvaria	Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly	ORPHA:945
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Myoclonus, Intractable, Neonatal	Optic disc pallor, Athetosis, Dandy-Walker malformation	OMIM:617235
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Seckel Syndrome 10	Microretrognathia, Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitu...	OMIM:617253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, Optic atrophy, Anemia, Lateral ventric...	OMIM:612301
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Optic atrophy	OMIM:612989
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxia...	OMIM:616300
Brown-Vialetto-Van Laere Syndrome 2	Split hand, Optic atrophy, Facial palsy, Ataxia	OMIM:614707
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Optic atrophy, Elevated CSF neopterin level, Difficulty walking, Decrea...	ORPHA:79097
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovarus, Congenital fin...	ORPHA:1154
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy, Ataxia	OMIM:618248
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Hydrocephalus, Small ha...	OMIM:616222
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy, Ataxia, Dysmetria	OMIM:618688
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hsd10 Disease, Infantile Type	Hypoglycemia, Optic atrophy, Hyperammonemia, Increased CSF lactate, Choreoathetosis, Loss of ambu...	ORPHA:391428
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Unsteady gait, Optic atrophy, Gait disturbance	OMIM:603896
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Genu recurvatum, Lower limb ...	ORPHA:2969
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatob...	ORPHA:96334
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abnormal abdomen morphology, Multip...	OMIM:216360
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Triple A Syndrome	Plantar hyperkeratosis, Ataxia, Optic atrophy, Abnormality of the calf musculature, Palmoplantar ...	ORPHA:869
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Kniest Dysplasia	Retinal detachment, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal os...	OMIM:156550
Leber Congenital Amaurosis 16	Optic disc pallor	OMIM:614186
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Increased CSF lactate	OMIM:618233
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Spastic Paraplegia 50, Autosomal Recessive	Optic disc pallor, Ataxia, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:612936
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic ...	ORPHA:97229
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Adducted thumb	ORPHA:275543
Spastic Paraplegia 7, Autosomal Recessive	Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pes cav...	OMIM:607259
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform...	OMIM:249000
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Combined Oxidative Phosphorylation Deficiency 29	Increased CSF protein concentration, Optic neuropathy, Axonal degeneration, Optic atrophy, Increa...	OMIM:616811
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased CSF protein concentration, Facial palsy, Elevated circulating creatine kinase concentra...	OMIM:258450
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Microg...	OMIM:259720
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Corpus Callosum, Partial Agenesis Of, X-Linked	Pes planus, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly, Dislocated radial head	OMIM:304100
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Optic atrophy, Limited mob...	OMIM:222300
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Ataxia, Hydrocephalus, Hand polydactyly,...	ORPHA:220493
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Hypoglycemia, Thrombocytopenia, Optic atrophy, Dysmetria, Athetosis, Rod-cone dystrophy, ...	OMIM:617710
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse...	OMIM:300863
Leber Optic Atrophy	Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ...	OMIM:535000
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Hyperalaninemia	OMIM:614739
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Elevated circulating creatine kinase concentration, Retinal degeneration	OMIM:615249
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Unsteady gait, Optic atrophy, Leg muscle stiffness,...	ORPHA:137898
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype...	ORPHA:401866
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity,...	OMIM:261680
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, P...	OMIM:607361
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Perit...	ORPHA:400
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Increased CSF lactate, Pigmentary retinopathy	OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Optic atrophy, Hyperammonemia, Increased CSF lactate, Neutropenia, Loss of ambulati...	OMIM:618253
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Ataxia, Micrognathia, Inability to walk, Talipes equinovalgus, Opti...	OMIM:617183
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Micrognathia, Optic atrophy, Gait disturbance, Chorioretinal coloboma	ORPHA:163937
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Pes planus, Ataxia, Optic atrophy, Hip dislocation, Unilateral facial palsy, Rod-cone dystrophy, ...	OMIM:618547
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Ataxia, Retinal dystrophy, Hydrocephalus, Hand polydactyly,...	ORPHA:2318
Leukodystrophy, Hypomyelinating, 22	Inability to walk, Optic disc pallor, Pes planus	OMIM:619328
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus	ORPHA:73256
Developmental And Epileptic Encephalopathy 28	Hand clenching, Optic atrophy, Retinal degeneration	OMIM:616211
Cach Syndrome	Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, Limb ataxia, Hepatosplenomegaly, Lateral ve...	ORPHA:135
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch...	ORPHA:805
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Optic atrophy, Increased CSF lactate, Pigmentary retinopathy, Fatigable wea...	ORPHA:436271
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis	ORPHA:504476
Spinocerebellar Ataxia Type 1	Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait d...	ORPHA:98755
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atre...	OMIM:615989
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Rod...	ORPHA:216866
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Hydrocephalus, Shoulder dislocation, Gait disturbance, Adducted thumb	ORPHA:2181
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies, Gait...	OMIM:230600
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Optic Atrophy 8	Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials	OMIM:616648
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Ataxia, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, F...	OMIM:300232
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Ataxia, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, G...	ORPHA:395
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hepatomegaly, Ataxia, Portal hypertension, Congenital hepatic fibrosis, ...	ORPHA:1454
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolong...	OMIM:612291
Mirage Syndrome	Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Hydrocephalus, Thrombocytopenia...	OMIM:617053
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor	OMIM:619446
Microcephaly, Amish Type	Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Micrognathia	OMIM:607196
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly	OMIM:602501
Joubert Syndrome 20	Renal cyst	OMIM:614970
Cohen Syndrome	Pes planus, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, B...	OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Elevated circulating creatine kinase concentration, Hydrocepha...	OMIM:253800
Friedreich Ataxia	Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Abnormal foot mo...	ORPHA:95
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Ventriculomegaly	OMIM:613638
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Broad thumb, Micrognathia	ORPHA:3173
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, ...	ORPHA:3078
Wildervanck Syndrome	Meningocele, Pseudopapilledema, Facial palsy	ORPHA:3456
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Joubert Syndrome 14	Encephalocele, Ataxia, Morning glory anomaly, Postaxial polydactyly, Hydrocephalus, Meningocele, ...	OMIM:614424
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy...	OMIM:618249
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Optic disc pallor, Hyperprolinemia	OMIM:619170
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Hydrocephalus, Postaxial hand ...	OMIM:241800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Roifman-Chitayat Syndrome	Short metacarpal, Optic atrophy, Short metatarsal, Cone-shaped epiphysis, Ventriculomegaly	OMIM:613328
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C...	ORPHA:261265
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Gait ataxia, Choreoathetosis...	OMIM:304340
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Optic atrophy, Holoprosencephaly, Ab...	ORPHA:1590
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Ab...	ORPHA:163966
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Hypoglycemia, Megaloblastic ...	ORPHA:79282
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Peroneal muscle weakness, Optic neu...	ORPHA:101076
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Hyperhomocystinemi...	ORPHA:2169
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ...	ORPHA:247691
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
3-Methylglutaconic Aciduria, Type I	Athetosis, Optic atrophy, Ataxia	OMIM:250950
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturba...	ORPHA:98673
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Progressive cerebellar ataxia, Optic atrophy	ORPHA:263516
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Slender long bone, Lateral ventricle dilatation, Episod...	ORPHA:420179
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Inability to walk, Hydrocephalus, Gait ataxia, Hip dysplasia...	OMIM:616362
Primary Angiitis Of The Central Nervous System	CSF pleocytosis, Abnormal CSF protein concentration, Pseudopapilledema, Ataxia	ORPHA:140989
Friedreich Ataxia	Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Areflexia of lower limbs, Dec...	OMIM:229300
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Spastic Paraplegia Type 2	Optic atrophy, Spastic gait, Ataxia	ORPHA:99015
Hurler Syndrome	Hepatomegaly, Hypoplasia of the femoral head, Coxa valga, Hypoplasia of the odontoid process, Hyd...	OMIM:607014
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi...	OMIM:602111
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Loss of ambulation	ORPHA:225154
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Optic atrophy, Hyperglycinemia, Increased CSF glycine concentration, Lethargy	OMIM:614299
Alg8-Cdg	Hyponatremia, Ataxia, Thrombocytopenia, Optic atrophy, Anemia, Talipes equinovarus, Camptodactyly...	ORPHA:79325
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Abnormality of the lo...	ORPHA:3035
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp...	OMIM:602579
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus, Micrognathia	ORPHA:1516
Joubert Syndrome 18	Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney	OMIM:614815
Bresek Syndrome	Hydrocephalus, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly	ORPHA:85284
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Meningococcal Meningitis	Papilledema, Elevated circulating C-reactive protein concentration, CSF pleocytosis, Hypoglycorrh...	ORPHA:33475
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Club-shaped distal femur, ...	OMIM:218400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Retinal dystrophy, Elevated circulating creatine kinase concentration, Ventriculom...	OMIM:616538
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Optic atrophy, Sho...	OMIM:101800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Ataxia, Tapered finger, Optic atrophy, Dysmetria, Gait ataxia, Step...	OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Increased CSF lactate	OMIM:618240
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Arts Syndrome	Optic atrophy, Ataxia	OMIM:301835
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Srd5A3-Cdg	Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Palmoplantar keratoderma, Rod-co...	ORPHA:324737
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Optic atrophy, Hyperammonemia, Hyperalaninemia, Rod-cone dystrophy, Lethargy	ORPHA:254913
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Rod-cone dystrophy	OMIM:617276
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde...	OMIM:200980
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb...	OMIM:250100
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Crouzon Syndrome	Hydrocephalus, Optic atrophy	ORPHA:207
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Decreased CSF biopterin level, Axon...	ORPHA:404454
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Hand polydactyly, Optic atrophy, Gait disturbance	ORPHA:2971
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Spli...	OMIM:309900
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, H...	OMIM:620155
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis	ORPHA:75234
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Positional foo...	ORPHA:496790
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep...	OMIM:615415
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
B4Galt1-Cdg	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, De...	ORPHA:79332
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal depo...	ORPHA:397715
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Retinal dystrophy, Abnormal foot morphol...	OMIM:608091
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Optic atrophy, Choreoathetosis, ...	OMIM:608804
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
6P22 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Hydrocephalus	ORPHA:251046
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypoglycemia, Hydrocephalus, Gait ataxia, Ventriculomegaly	OMIM:616355
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ...	OMIM:224400
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Splenomegaly, Crypt...	ORPHA:567
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Ataxia, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Abnormal hip ...	ORPHA:2720
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Lymp...	OMIM:618495
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Micrognathia, Hydrocephalus, Radioulnar synostosis, Sho...	ORPHA:171839
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Pes c...	OMIM:601152
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Glycosuria, Rod-cone d...	OMIM:268315
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemi...	ORPHA:2609
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short 4th metacarpal	ORPHA:2183
Idiopathic Intracranial Hypertension	Papilledema, Lethargy	ORPHA:238624
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Hydrocephalus, Choreoathetosis, Symmetrical progressive peripheral de...	OMIM:231670
3C Syndrome	Finger syndactyly, Ventriculomegaly, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Ha...	ORPHA:7
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Optic atrophy, Hyperammonemia, Hypoglycemia	OMIM:614702
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Microcytic anemia, Insulin-resistant diabetes mellit...	ORPHA:293967
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent...	ORPHA:93274
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Increased CSF lactate, Ankle clonus, Late...	ORPHA:565624
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Elevated circulating creatine kinase concentration, 2-3 toe syndactyly, Cutane...	ORPHA:314389
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat...	ORPHA:1908
Spinocerebellar Ataxia, Autosomal Recessive 28	Optic atrophy, Gait ataxia	OMIM:618800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Clinodactyly, Hydrocephalus, Ventriculomegaly, Micrognathia	OMIM:618577
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo...	ORPHA:2655
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Fundus atrophy, Optic atrophy, Dandy-Walker malformation, Short distal phalanx of finger	ORPHA:1970
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Bradykinesia, Gait disturbance, Shuffling gait, Motor axonal neuropathy	ORPHA:289560
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Leukodystrophy, Hypomyelinating, 6	Choreoathetosis, Optic atrophy, Ataxia	OMIM:612438
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Hydrocephalus, Pigmentary retinopathy, Hip dysplasia, Short 2nd to...	OMIM:612582
Ogden Syndrome	Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Jau...	OMIM:300855
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at...	ORPHA:465508
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro...	OMIM:616084
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst	OMIM:617100
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Hydrocepha...	ORPHA:3205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, 11 pairs of ribs, Elevate...	OMIM:615287
Neurodegeneration With Brain Iron Accumulation 2A	Ataxia, Micrognathia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy	OMIM:256600
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Aplasia/Hypoplas...	ORPHA:3301
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Meckel Syndrome	Encephalocele, Accessory spleen, Bowing of the long bones, Abnormal chorioretinal morphology, Tal...	ORPHA:564
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi...	OMIM:251900
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Pontocerebellar Hypoplasia, Type 7	Ataxia, Micrognathia, Hydrocephalus, Optic atrophy, Choreoathetosis, Ventriculomegaly	OMIM:614969
Camurati-Engelmann Disease	Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,...	ORPHA:1328
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ...	OMIM:617925
Woods Syndrome	3-4 finger cutaneous syndactyly, Optic atrophy	OMIM:615236
Hajdu-Cheney Syndrome	Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy...	ORPHA:502423
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Aplastic anemia, Absent thumb, Thrombocytopenia, Hydrocephalus, Bilateral ...	OMIM:300514
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Dilated fourth ventricle, Optic atr...	OMIM:164400
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Lo...	OMIM:617282
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia	ORPHA:2770
Spinocerebellar Ataxia Type 13	Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Difficulty walking	ORPHA:98768
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly, Hepatosplenomegaly	ORPHA:466934
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ...	OMIM:614922
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ...	ORPHA:2044
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea...	OMIM:612284
Mucopolysaccharidosis Type 1	Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Split hand, Optic atrophy, Abnormal epip...	ORPHA:579
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Postaxial hand polydactyly	ORPHA:83473
Canavan Disease	Increased CSF N-acetylaspartic acid concentration, Optic atrophy, Increased circulating N-acetyla...	OMIM:271900
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis	ORPHA:53271
Primary Ciliary Dyskinesia	Asplenia, Hydrocephalus, Clubbing, Polysplenia, Rod-cone dystrophy, Ventriculomegaly	ORPHA:244
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Spastic Paraplegia 79B, Autosomal Recessive	Pes planus, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Ankle clonus, Loss of ambu...	OMIM:615491
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Fractures ...	ORPHA:157850
3-Methylglutaconic Aciduria, Type V	Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia, Nonprogr...	OMIM:610198
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Hydrocephalus, Ulnar b...	OMIM:100800
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Hydrocephalus	OMIM:618302
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys...	ORPHA:79303
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus	ORPHA:2119
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Joubert Syndrome 1	Optic disc pallor, Enlarged fossa interpeduncularis, Retinal dystrophy, Ataxia, Postaxial hand po...	OMIM:213300
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Portal hypertension, Abnormality of the...	ORPHA:974
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic syst...	ORPHA:464329
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Inability to walk, Metaphyseal widening, Thrombocytopenia, Optic atrophy, Clubbing,...	OMIM:617303
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Anencephaly, Preaxial polyda...	OMIM:616546
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Optic atrophy, Truncal ataxia, Increased CSF lactate, Pigmentary retinopath...	OMIM:220110
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Alexander Disease Type I	Hydrocephalus, Ataxia	ORPHA:363717
Roberts Syndrome	Clitoral hypertrophy, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Juvenile Sialidosis Type 2	Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Loss of ambulation, Cherry re...	ORPHA:93399
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia,...	OMIM:619259
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Hyperhomocystinem...	OMIM:277400
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, B...	ORPHA:445038
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Edinburgh Malformation Syndrome	Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Slender finger	ORPHA:1895
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly	OMIM:109120
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphology, Optic atro...	ORPHA:2715
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ataxia, Retinal hemorrhage, Athetosis, Fasting hypoglycemia, Subepen...	ORPHA:25
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Micrognathia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation	OMIM:620089
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, ...	ORPHA:1865
Peho Syndrome	Tapered finger, Hydrocephalus, Optic atrophy, Pedal edema, Ventriculomegaly	ORPHA:2836
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Mucopolysaccharidosis Type 3	Hepatomegaly, Ventriculomegaly, Ataxia, Adenoiditis, Avascular necrosis of the capital femoral ep...	ORPHA:581
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait...	OMIM:614863
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy, Ataxia	ORPHA:220295
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
1Q44 Microdeletion Syndrome	Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly, Micrognathia	ORPHA:238769
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth, Ataxia	ORPHA:1861
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Hydrocephalus, Humeroradial s...	OMIM:260660
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro...	OMIM:601539
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Progressive cerebellar ataxia, Optic atrophy, Prolonged neonatal jaundice	OMIM:618868
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Preaxial polydactyly, Reti...	OMIM:243605
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Increased CSF lactate, Increased cup-to-disc ratio, Hip subluxation, Ventriculomegaly	ORPHA:500144
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Abnormal foot morphology, Hydrocephalus	OMIM:615599
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Acrootoocular Syndrome	Short metacarpal, Sandal gap, Abnormal finger flexion crease, Micrognathia, Short toe, Cutaneous ...	ORPHA:2980
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp...	ORPHA:91138
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot...	OMIM:619471
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Extra-axial cerebrospinal fluid accumulation, Optic atrophy, Ventriculomegaly, Hypoplastic optic ...	OMIM:617669
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe...	ORPHA:309256
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:614298
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Gait disturbance, Ventriculomegaly, Micrognathia	OMIM:609757
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Micrognathia, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodactyly of the...	OMIM:619320
Whipple Disease	Hyponatremia, Hepatomegaly, Ataxia, Mediastinal lymphadenopathy, Insulin resistance, Hydrocephalu...	ORPHA:3452
Czeizel-Losonci Syndrome	Hitchhiker thumb, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, 2-3 finger syndact...	ORPHA:2437
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve...	ORPHA:1187
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Talipes, Akinesia, Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker m...	OMIM:225790
Stankiewicz-Isidor Syndrome	Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Abnormal optic disc morphology	OMIM:617516
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Mpdu1-Cdg	Optic atrophy, Elevated circulating creatine kinase concentration, Ventriculomegaly	ORPHA:79323
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Cryptorchidism, H...	OMIM:134780
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Optic atrophy, Hip dislocation, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:614381
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus	OMIM:300558
Mohr Syndrome	Syndactyly, Micrognathia, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, F...	OMIM:252100
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy	OMIM:253260
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Hydrocephalus, Short toe, A...	OMIM:269860
Hurler Syndrome	Hepatomegaly, Camptodactyly of finger, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, N...	ORPHA:93473
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Fg Syndrome Type 1	Finger syndactyly, Broad-based gait, Pes planus, Broad toe, Optic nerve hypoplasia, Micrognathia,...	ORPHA:93932
Amish Lethal Microcephaly	Hepatomegaly, Spina bifida, Micrognathia, Optic atrophy, Ventriculomegaly	ORPHA:99742
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Leukocytosis, Optic atrophy, Genu valgu...	OMIM:619321
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Choroid plexus cyst, Patellar hypoplasia, Talipes equinovarus, Preaxi...	ORPHA:1827
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Dysosteosclerosis	Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, Abnormal metaphys...	ORPHA:1782
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Congenital hip dislocation, Hypoglycemia, Micrognathia, Tapered finger, Hypoplasia of...	OMIM:616007
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Op...	ORPHA:87
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopenia, Hydrocephalus, S...	ORPHA:398124
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Optic nerve hypoplasia, Micrognathia, Metatarsus adductus, Inability to walk, Sma...	ORPHA:300570
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Ventriculomegaly	OMIM:610651
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Optic atrophy	ORPHA:496756
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Abnormal foot morphology, Hydrocephalus, Cutaneous syndactyly, Tal...	OMIM:617822
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi...	OMIM:612651
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb	OMIM:276950
Halperin-Birk Syndrome	Micrognathia, Inability to walk, Optic atrophy, Hip dislocation, Colpocephaly, Talipes equinovaru...	OMIM:618651
Dural Sinus Malformation	Myelopathy, Papilledema, Hydrocephalus, Ataxia	ORPHA:97339
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Hypoglycemia	OMIM:608688
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy	OMIM:300322
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ...	OMIM:127000
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Optic atrophy, Abnormal metaphyseal trabeculation, Flared m...	OMIM:224300
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia...	ORPHA:3412
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Facial palsy, Hydrocephalus, Slender toe, Dandy-Walker malformation	OMIM:310400
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Genu recurvatum, Overlapping toe, Optic atrophy, Hip dislocation, Talipes equino...	OMIM:617301
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Talipes, Hydrocephalus, Split hand, Anencephaly, Abnormal tibi...	ORPHA:1335
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc...	OMIM:108720
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Splenomegaly, Hydrocephalus, Lymphadenopathy, Hypocalcemi...	ORPHA:667
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Ataxia, Hepatosplenomegaly	ORPHA:309288
Congenital Disorder Of Glycosylation, Type If	Ventriculomegaly, Optic atrophy, Ataxia	OMIM:609180
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Inability to walk, Hydrocephalus, Thrombocytopenia, Optic at...	ORPHA:505248
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Cockayne Syndrome A	Hip contracture, Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal...	OMIM:216400
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy	OMIM:207950
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance, ...	ORPHA:475
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Triploidy	Finger syndactyly, Hepatomegaly, Micrognathia, Abnormality of the pancreas, Hydrocephalus, Mening...	ORPHA:3376
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
47,Xyy Syndrome	Congenital stationary night blindness, Hydrocephalus, Finger clinodactyly	ORPHA:8
Jacobsen Syndrome	Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, ...	OMIM:147791
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Brachydactyly	ORPHA:2701
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Type II diabetes mellitus, Ataxia	OMIM:604121
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip...	ORPHA:1318
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodac...	ORPHA:90652
Cryptococcosis	Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Hydrocephalus, Perit...	ORPHA:1546
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Inability to walk, Optic atrophy,...	ORPHA:845
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Marshall-Smith Syndrome	Slender long bone, Bowing of the long bones, Optic atrophy, Ventriculomegaly	ORPHA:561
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym...	ORPHA:1655
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Micrognath...	OMIM:253280
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circulating ac...	OMIM:616878
Holoprosencephaly	Hyponatremia, Encephalocele, Diabetes mellitus, Hypoglycemia, Talipes, Abnormality of the spleen,...	ORPHA:2162
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Knee dislocation, Shoulder dislocation, Dislocated radial head, Microretrognathia, ...	OMIM:245600
Coccidioidomycosis	Abnormal retinal morphology, Eosinophilia, CSF pleocytosis, Hydrocephalus, Abnormality of the spl...	ORPHA:228123
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Ataxia, Arachnodactyly, Coxa valga, Inability to walk, Metaphyseal widening, H...	OMIM:620083
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Macrovesicular hep...	OMIM:618329
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Prolonged neonatal jau...	OMIM:210710
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Abnormality of the pancreas, Hydrocephalus, Optic atrophy, Palmoplanta...	ORPHA:1555
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Hydrocephal...	OMIM:619951
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Leukocytosis, Increased CSF lactate, Hypercholesterolemia, Hyp...	ORPHA:90065
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:616683
Pallister-Hall Syndrome	Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased...	OMIM:146510
Charcot-Marie-Tooth Disease Type 4B2	Pes planus, Decreased distal sensory nerve action potential, Inability to walk, Abnormal foot mor...	ORPHA:99956
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thrombocytopenia...	OMIM:612199
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90037
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Crouzon Syndrome	Hydrocephalus, Optic atrophy	OMIM:123500
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus, Optic atrophy	OMIM:618590
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Aniridia 2	Optic atrophy	OMIM:617141
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Hydrocepha...	OMIM:619377
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Aase-Smith Syndrome I	Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation	OMIM:147800
Dilated Cardiomyopathy With Ataxia	Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Hypochromic microcytic anemia, Normochro...	ORPHA:66634
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger, Microre...	ORPHA:508498
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
15Q Overgrowth Syndrome	Microretrognathia, Contracture of the proximal interphalangeal joint of the 3rd finger, Contractu...	ORPHA:314585
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,...	ORPHA:3404
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Primary adrena...	ORPHA:912
De Sanctis-Cacchione Syndrome	Ataxia, Equinovarus deformity, Axonal degeneration, Optic atrophy, Scissor gait, Choreoathetosis,...	OMIM:278800
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Micrognathia, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Secondary amenorrhea, Renal cyst, Type I diabet...	ORPHA:488618
Wolfram Syndrome 2	Diabetes mellitus, Optic atrophy, Optic neuropathy	OMIM:604928
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Short...	OMIM:615636
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Unsteady gait	OMIM:617542
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen...	ORPHA:261344
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Tapered finger, Short toe, Hydrocephalus, Athetosis, Delayed ossification ...	OMIM:239300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Inabili...	OMIM:617913
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Ataxia, Hydrocephalus, Hand polydactyly, Gait disturbance	ORPHA:220497
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Ataxia, Unsteady gait, Optic atrophy, Small hand, Increased CSF lactate	OMIM:614947
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice...	OMIM:615512
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteolysis ...	ORPHA:371428
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Talipes, Micrognathia, Achilles tendon contracture, Knee contract...	OMIM:620351
Tenorio Syndrome	Hypoglycemia, Hydrocephalus, Gait disturbance, Hypoinsulinemia, Ventriculomegaly	OMIM:616260
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Portal...	OMIM:615688
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Ankle clonus, Abnormal circulating cholesterol concentration, Difficul...	OMIM:213700
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Gorlin Syndrome	Hydrocephalus, Plantar pits, Arachnodactyly, Brachydactyly	ORPHA:377
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f...	OMIM:613776
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia asso...	ORPHA:616
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c...	OMIM:257300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Hydrocephalus, Annular pancreas, 2-3 toe syndactyly, Knee flexion contracture, Irregu...	OMIM:618162
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Broad-based gait, Pancytopenia, Abnormality of the spleen, Hydrocepha...	ORPHA:2072
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia...	OMIM:618775
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Multiple renal ...	ORPHA:99776
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Micrognathia, Hy...	ORPHA:536467
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Small hand, Short foot, Hip dysplasia, Gait disturbance, Dilated third ventricle, ...	ORPHA:500055
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst	ORPHA:480536
H Syndrome	Hallux valgus, Pes planus, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Hydrocepha...	ORPHA:168569
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Talipes, Micrognathia, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphy...	OMIM:210730
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena...	ORPHA:261494
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu...	OMIM:610505
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Cholecystitis, Incre...	ORPHA:309263
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Optic disc pallor, Normocytic anemia, Rocker bottom foot, Akinesia, Micrognathi...	OMIM:618947
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Hypot...	OMIM:212065
Monosomy 18Q	Pes planus, Arachnodactyly, Abnormal retinal morphology, Tapered finger, Hydrocephalus, Choreoath...	ORPHA:1600
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hydrocephalus, Camptodactyly, Dandy-Walker malformation	OMIM:614846
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Delayed p...	OMIM:232220
Penile Agenesis	Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate...	ORPHA:49
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Hydrocephalus, Humeroradial synostosis, Ulnar bowing, Femoral...	OMIM:207410
Tibial Hemimelia	Absent tibia	OMIM:275220
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Ataxia, Optic atrophy, Palmoplantar hyperkeratosis, Abnormal autonomic n...	OMIM:231550
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Foot polydactyly, Chorioretinal coloboma, Short palm	ORPHA:268249
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Metatarsus adductus, Hypoplasia of the odontoid process, Hydrocephalus, Splenomegal...	OMIM:253220
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Retinal dystrophy, Tapered finger, Duplication of distal phalan...	ORPHA:324540
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Talipes equinovarus, Decreased sensory...	ORPHA:320375
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Ventriculomegaly, Knee flexion contracture	OMIM:603387
Craniopharyngioma	Papilledema, Hydrocephalus, Optic atrophy, Type II diabetes mellitus	ORPHA:54595
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ...	ORPHA:93325
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia,...	ORPHA:168577
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Hydrocephalus, 2-3 ...	OMIM:300960
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Pes planus, Micrognathia, Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation	ORPHA:459061
Xfe Progeroid Syndrome	Optic atrophy, Hypoalbuminemia, Pes cavus, Ventriculomegaly, Attenuation of retinal blood vessels	OMIM:610965
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Postaxial polydactyly, Micrognathia, Asplenia, Short ...	ORPHA:221120
Gaucher Disease	Hepatomegaly, Ventriculomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein con...	ORPHA:355
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Hydrocephalus, Colpocephaly, Ventriculomegaly, Brachydactyly	OMIM:620156
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hydrolethalus	Micromelia, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly	ORPHA:2189
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Retinal dystrophy, Micrognathia, Aqueductal stenosis, Long fingers, H...	OMIM:619512
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Hydrocephalus, Abnormal fibula morphology, Gait disturbance, Ventriculomegaly	ORPHA:1812
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve...	ORPHA:909
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro...	ORPHA:2473
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Peripheral axonal neuropathy, Micrognathia, Splenomegaly...	OMIM:115150
Biotinidase Deficiency	Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia, Lethargy	ORPHA:79241
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a...	OMIM:268300
Diabetic Embryopathy	Abnormality of the pancreas, Hydrocephalus, Micrognathia, Spinal dysraphism	ORPHA:1926
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hydrocephalus, Optic atrophy, Palmoplantar cutis laxa, Ventriculomegaly	OMIM:123790
Baller-Gerold Syndrome	Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial deviation...	OMIM:218600
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Sho...	OMIM:618188
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn...	ORPHA:991
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly	OMIM:314390
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardio...	OMIM:130650
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Tetrasomy 5P	Overlapping toe, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Talipes equinovarus, Cl...	ORPHA:3309
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Abnormal foot morphology, Optic atrophy, Choreoathetosis, Pigme...	OMIM:234200
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Optic disc coloboma, Optic...	ORPHA:50
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Talipes calcaneovalgus, Dysdiadochokinesis	OMIM:610217
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citrulline, Op...	ORPHA:255210
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa	OMIM:616482
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Hepatomegaly, Ataxia, Hypoglycemia, Optic neuropathy, Splenomegaly, Increased ...	OMIM:252010
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hepatomegaly, Hypoplasia of the odontoid process, Hydrocephalus, Metaphysea...	OMIM:253200
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypothyroidism	OMIM:618829
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp...	OMIM:191100
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hydrocephalus, Cholelithiasis, Hyperbil...	OMIM:614886
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Po...	OMIM:605627
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Desmosterolosis	Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Ventriculome...	ORPHA:35107
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Emanuel Syndrome	Congenital hip dislocation, Micrognathia, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:609029
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Hydrocephalus, Optic atrophy, Lethargy	ORPHA:137675
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Ataxia, Hydrocephalus, Genu valgum, Chronic myelogenous leuk...	ORPHA:636
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg...	ORPHA:235
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Inability to walk, Cranial nerve c...	ORPHA:2356
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin...	OMIM:305600
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Pancytopenia, Ataxia, Genu valgum, Hepatosplenome...	ORPHA:309282
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Rocker bottom ...	ORPHA:163979
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Monosomy 9Q22.3	Hydrocephalus, Plantar pits, Polydactyly, Retinopathy, Ventriculomegaly	ORPHA:77301
Emanuel Syndrome	Congenital hip dislocation, Micrognathia, Hydrocephalus, Abnormality of the ankle, Dandy-Walker m...	ORPHA:96170
Basal Cell Nevus Syndrome 2	Plantar pits, Hydrocephalus, Neurofibroma	OMIM:620343
Aicardi Syndrome	Retinal detachment, Spina bifida, Proximal placement of thumb, Missing ribs, Chorioretinal lacuna...	OMIM:304050
D-Bifunctional Protein Deficiency	Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insufficiency, Cholestasis, Renal cyst...	OMIM:261515
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Occipital encephalocele, Ataxia, Chorioretinal atrophy, Vi...	OMIM:267750
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abno...	ORPHA:580
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Brachydactyly, Dandy-Walker malformation, Drumstick terminal phalanges	OMIM:612938
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr...	ORPHA:2785
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads	OMIM:612863
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Abnormality of the lymphatic system, Optic atrophy, Lymphadenop...	ORPHA:538
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:85201
Marshall-Smith Syndrome	Microretrognathia, Hallux valgus, Optic nerve hypoplasia, Bullet-shaped middle phalanges of the h...	OMIM:602535
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Broad-based gait, Optic atrophy	OMIM:609037
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Talipes equino...	ORPHA:250989
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Hydrocephalus, Optic atrophy, Genu valgum, Palmoplantar keratoderma	ORPHA:1340
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Cockayne Syndrome B	Hepatomegaly, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decre...	OMIM:133540
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Hydrocephalus,...	OMIM:227646
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Dextrocardia	Congenital hip dislocation, Abnormal foot morphology, Hydrocephalus, Abnormality of the spleen, A...	ORPHA:1666
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Ab...	ORPHA:58
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Congenital hip dislocation, Bowing of the long bones	OMIM:612940
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle, Optic atrophy, Ataxia, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Dandy-Walk...	OMIM:606519
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Aprosencephaly, Retinal dysplasia, Micrognathia	OMIM:601374
7Q11.23 Microduplication Syndrome	Pes planus, Micrognathia, Long fingers, Hydrocephalus, Unsteady gait, Dysmetria, Abnormal optic d...	ORPHA:96121
Apert Syndrome	Syndactyly, Finger syndactyly, Preaxial hand polydactyly, Hydrocephalus, Delayed epiphyseal ossif...	OMIM:101200
Mosaic Trisomy 1	Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Plasminogen Deficiency, Type I	Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome...	OMIM:276700
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ...	OMIM:618454
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki...	OMIM:249100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Short metacarpal, Abnormal metacarpal epiphysis morphology, Arachnodactyly, Abnor...	ORPHA:95699
Charge Syndrome	Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Micrognathia, Absent radius, Short ...	OMIM:214800
Shprintzen-Goldberg Craniosynostosis Syndrome	Pes planus, Genu recurvatum, Arachnodactyly, Micrognathia, Metatarsus adductus, Hydrocephalus, Me...	OMIM:182212
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Micrognathia, Hydrocephalus, Osteopathi...	OMIM:300373
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Hepatomegaly, Arachnodactyly, Optic atro...	ORPHA:394
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cl...	ORPHA:264450
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, E...	ORPHA:401973
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, P...	OMIM:264480
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Hydrocephalus, Micrognathia	ORPHA:2409
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Micrognathia	OMIM:112240
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen...	OMIM:618460
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi...	ORPHA:464311
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Marfanoid-Progeroid-Lipodystrophy Syndrome	Pes planus, Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Arachnodactyl...	OMIM:616914
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality...	ORPHA:2538
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Decreased testi...	ORPHA:261349
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Thrombocytopenia, Micrognathia	ORPHA:1237
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thum...	ORPHA:84
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Micrognathia, Abnorma...	ORPHA:2050
Desmosterolosis	Ventriculomegaly, Rhizomelia, Micrognathia, Hydrocephalus, Abnormal circulating cholesterol conce...	OMIM:602398
Wolfram Syndrome	Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Optic atrophy, Abnormal autonomic nervo...	ORPHA:3463
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality...	ORPHA:369837
Cole-Carpenter Syndrome 2	Microretrognathia, Hydrocephalus, Narrow iliac wing	OMIM:616294
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryp...	OMIM:229850
Osteogenesis Imperfecta	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, A...	ORPHA:666
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyro...	ORPHA:116
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Pes cavus	OMIM:231005
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia	OMIM:243440
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp...	ORPHA:464306
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl...	ORPHA:2059
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysplasia, Short...	OMIM:619727
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly, Ventriculomegaly	OMIM:219730
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Ataxia	ORPHA:65285
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Aganglionic megacolon, Tapered finger, Hydrocephalus, Talipes equinovarus, Ven...	OMIM:613603
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Lymphopenia, Anemia	ORPHA:2268
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudarthrosis, Genu valgu...	OMIM:162200
Neurooculorenal Syndrome	Short hallux, Micrognathia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hydrocephalus, Re...	OMIM:620305
Autosomal Dominant Hypocalcemia	Optic atrophy, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Optic atrophy, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Hajdu-Cheney Syndrome	Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Micr...	ORPHA:955
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Micrognathia, Hydrocephalus, Split hand, Radial deviation of finger, Ca...	OMIM:305450
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Hydrocephalus, Plantar pits, Irregular ossification of hand...	OMIM:109400
Arachnoiditis	Hydrocephalus	ORPHA:137817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly	OMIM:613150
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Absent Achilles reflex, Neural tube defect, Dif...	ORPHA:268810
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Tapered finger, Micrognathia, Hydrocephalus, Optic disc ...	ORPHA:261337
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Missing ribs	OMIM:613686
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosi...	OMIM:175780
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Micrognathia, Hy...	ORPHA:2556
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hydrocephalus, Colpocephaly	OMIM:309801
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Biliary cirrhosis, Renal cyst, Chol...	OMIM:613610
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Hydrocephalus, Hypophosphatemia, Long hallux,...	OMIM:259775
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent frontal sinuses, Asplenia	OMIM:244400
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Bilateral talipes e...	OMIM:614083
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma	ORPHA:220460
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Ataxia, Hydrocephalus, Neurofibroma, Jaundice, Genu valgum, Decreased CSF 5-met...	OMIM:619475
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly ...	ORPHA:2462
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst	OMIM:617260
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen, Micrognathia	OMIM:601186
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Peters-Plus Syndrome	Short palm, Syndactyly, Short metacarpal, Rhizomelia, Bilobate gallbladder, Proximal placement of...	OMIM:261540
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Camptodactyly of fi...	ORPHA:3455
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Leptospirosis	Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini...	ORPHA:509
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Koolen-De Vries Syndrome Due To A Point Mutation	Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus, Calcane...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pes planus, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus, Calcane...	ORPHA:363958
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Facial palsy, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus...	ORPHA:2658
Pineoblastoma	Papilledema, Retinoblastoma, Lethargy	ORPHA:251909
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Absent gallbladder, Hypoplastic scapulae, Abnormal chorioret...	ORPHA:3310
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Aqueductal stenosis, Asplenia, M...	OMIM:306955
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Meningioma	Papilledema, Ataxia, Facial palsy, Hydrocephalus, Neurofibroma, Difficulty walking	ORPHA:2495
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Micrognathia	OMIM:130720
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Cryptor...	ORPHA:534
Alagille Syndrome 1	Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Sta...	OMIM:118450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas	OMIM:616975
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Postaxial hand polydactyly	OMIM:610829
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus,...	OMIM:607872
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly, Micrognathia	OMIM:617667
Aymé-Gripp Syndrome	Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Camptodactyly, Clinodac...	ORPHA:1272
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Cryptorch...	ORPHA:1606
Isotretinoin-Like Syndrome	Hydrocephalus, Lymphopenia, Hypocalcemia, Micrognathia	ORPHA:2306
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Micrognathia	ORPHA:1064
Wolf-Hirschhorn Syndrome	Accessory spleen, Pseudoepiphyses of the metacarpals, Short hallux, Micrognathia, Metatarsus addu...	OMIM:194190
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen...	ORPHA:495875
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Schinzel-Giedion Syndrome	Myeloid leukemia, Hypospadias, Streak ovary, Abnormality of the ureter, Nephrolithiasis, Renal cy...	ORPHA:798
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Hydrocephalus, Short toe, Optic atrophy, Sh...	ORPHA:709
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Hydrocephalus, Congenital hip dislocation	OMIM:104350
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Pes planus, Septo-optic dysplasia, Short fifth metatarsal, Short fou...	OMIM:619841
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Hypertriglyceridemia, Short femur, Micrognathia, Hypoplastic ilia, Long ...	OMIM:264090
Sacral Defect With Anterior Meningocele	Myeloschisis, Absence of the sacrum, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus t...	OMIM:600145
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Autosomal Dominant Optic Atrophy And Cataract	Ataxia, Abnormal thumb morphology, Unsteady gait, Optic atrophy, Deviation of the 2nd finger, Abs...	ORPHA:67036
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia...	OMIM:619297
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Aqueductal stenosis, Knee dislocation, Hypoalbuminemia, Hepatic fi...	OMIM:619534
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Syndactyly, Lateral ventricle dilatation, Polydactyly	OMIM:619869
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Hypothyroidism	ORPHA:1556
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Costello Syndrome	Hyperextensibility of the finger joints, Hypoglycemia, Micrognathia, Hydrocephalus, Achilles tend...	OMIM:218040
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Talipes, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly	ORPHA:2166
Robinow Syndrome	Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External...	ORPHA:97360
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia...	ORPHA:1052
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Pes planus, Arachnodactyly, Neonatal hypoglycemia, Gait ataxia, Diff...	ORPHA:457359
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Kabuki Syndrome	Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short 5th finger, Ven...	ORPHA:2322
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Pes planus, Arachnodactyly, Gait ataxia, Large hands, Long foot, Ven...	OMIM:617011
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hepatomegaly, Short greater sciatic not...	OMIM:312870
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Long foot, Micrognathia, Schwannoma, Hydrocephalus, Abnormal tibia morpholo...	ORPHA:363700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Pes planus, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t...	ORPHA:744
Jacobsen Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Hydr...	ORPHA:2308
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ...	ORPHA:2750
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe...	ORPHA:1507
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h...	ORPHA:93271
Tetraamelia Syndrome 1	Micrognathia, Asplenia, Hydrocephalus, Hypoplastic pelvis, Tetraamelia	OMIM:273395
Distal Deletion 15Q	Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc...	ORPHA:1596
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re...	ORPHA:2052
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce...	OMIM:219000
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi...	ORPHA:904
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Alobar Holoprosencephaly	Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom...	ORPHA:93924
Semilobar Holoprosencephaly	Inability to walk, Hydrocephalus, Hip dislocation, Neural tube defect, Abnormality of the autonom...	ORPHA:220386
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula	ORPHA:171929
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system	ORPHA:137667
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Hypoplasminogenemia	Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation	ORPHA:722
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Neonatal hypoglycemia	OMIM:261740
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hydrocephalus, Gait disturbance, Narrow iliac wing, Anemia	ORPHA:3042
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ...	ORPHA:1308
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Split Cord Malformation	Pes planus, Lower limb asymmetry, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, ...	ORPHA:573278
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Loeys-Dietz Syndrome 2	Pes planus, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,...	OMIM:610168
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Loeys-Dietz Syndrome 1	Arachnodactyly, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Cam...	OMIM:609192
Kabuki Syndrome 1	Hemolytic anemia, Congenital hip dislocation, Micrognathia, Autoimmune thrombocytopenia, Hydrocep...	OMIM:147920
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl...	OMIM:606170
Fontaine Progeroid Syndrome	Syndactyly, Micrognathia, Hydrocephalus, Absent distal phalanges, Short distal phalanx of finger	OMIM:612289
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Hydrocepha...	OMIM:258040
Coffin-Siris Syndrome 12	Facial palsy, Micrognathia, Hip subluxation, Short thumb, Slender finger, Noncommunicating hydroc...	OMIM:619325
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of int...	OMIM:113620
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A...	ORPHA:261537
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A...	ORPHA:261552
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, El...	ORPHA:79318
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m...	OMIM:601803
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hydrocephalus, Partial duplication of thumb phalanx, Genu ...	OMIM:164210

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 Rabgap1

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 Rabgap1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.	Genetics in medicine : official journal of the American College of Medical Genetics (September 2022)	Rabgap1^{tm1b(EUCOMM)Hmgu}	36083289

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MGI Allele	Allele Type	Produced
Rabgap1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rabgap1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Rabgap1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: Rabgap1 MGI:2385139

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Rabgap1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data