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Gene: Bbs1 MGI:1277215

Gene Summary

Name:

Bardet-Biedl syndrome 1

Synonyms:

D19Ertd609e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal blood vessel morphology	Bbs1^em1(IMPC)Mbp	HET	E15.5
microphthalmia	Bbs1^em1(IMPC)Mbp	HET	E15.5
abnormal placenta vasculature	Bbs1^em1(IMPC)Mbp	HOM	E15.5
small heart	Bbs1^em1(IMPC)Mbp	HET	Early adult
anophthalmia	Bbs1^em1(IMPC)Mbp	HET	Early adult
abnormal placenta morphology	Bbs1^em1(IMPC)Mbp	HET	E15.5
abnormal placenta morphology	Bbs1^em1(IMPC)Mbp	HOM	E15.5
edema	Bbs1^em1(IMPC)Mbp	HOM	E15.5
edema	Bbs1^em1(IMPC)Mbp	HET	E15.5
abnormal eye morphology	Bbs1^em1(IMPC)Mbp	HET	Early adult
abnormal heart morphology	Bbs1^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, complete penetrance	Bbs1^em1(IMPC)Mbp	HOM	Early adult

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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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E14.5-E15.5

Images

21 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Bbs1 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 Bbs1 (3 diseases)
Human diseases predicted to be associated with Bbs1 (2247 diseases)

The table below shows human diseases associated to Bbs1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Abnormal retinal vasc...	ORPHA:791
Bardet-Biedl Syndrome	Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Obesity, Pigmentary retinopathy, Hyp...	ORPHA:110
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco...	OMIM:209900

The table below shows human diseases predicted to be associated to Bbs1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Lipedema	Edema	OMIM:614103
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Bardet-Biedl Syndrome 11	Retinopathy, Obesity	OMIM:615988
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Cach Syndrome	Premature ovarian insufficiency, T2 hypointense thalamus, Flexion contracture, Optic atrophy, Tru...	ORPHA:135
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615995
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Obesity	OMIM:615991
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis, Polymicrogyria	OMIM:300982
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615987
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Camptodactyly of finger, Broad nasal tip, Lateral ventricle dilata...	OMIM:619420
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Olivopontocerebellar Atrophy-Deafness Syndrome	Ventriculomegaly, Ataxia, Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium	OMIM:615524
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Retinal dystrophy, Ataxia, Anteverted n...	OMIM:608629
Autism, Susceptibility To, X-Linked 6	Obesity, Underdeveloped nasal alae	OMIM:300872
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Optic atrophy, Simplified gy...	OMIM:619470
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatation, Congenita...	OMIM:607596
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Optic atrophy, Gait ataxia, Inappropriate laughter, Flexion contracture ...	OMIM:619323
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Euphoria, Lateral ventricle dilatation, Inappropriate behavior, Disinhibitio...	OMIM:221770
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Holoprosencephaly 5	Anteverted nares, Depressed nasal bridge, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu...	OMIM:609637
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Premature ovarian insufficiency, Ataxia, Depression	OMIM:615889
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde...	OMIM:618709
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Restlessness, Later...	OMIM:619517
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Polyrrhinia	Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph...	ORPHA:141091
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Bulbous nose, Optic atrophy, Colpocephaly, Macular hyp...	ORPHA:2185
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Lateral ventricle dilatation, Difficulty walking, Depression	ORPHA:306669
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Inability to walk, Lateral ve...	OMIM:613443
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Obesity	OMIM:615983
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Abnormality of pattern visual evo...	ORPHA:2822
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Depression, Irrit...	ORPHA:399
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Microcephaly 19, Primary, Autosomal Recessive	Failure to thrive in infancy, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulat...	OMIM:617800
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Dyspl...	OMIM:619737
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Failure to thrive in infancy, Ankle flexion contracture, Limb joint contr...	ORPHA:284417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, P...	OMIM:613154
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Fl...	ORPHA:79243
Malan Overgrowth Syndrome	Optic disc pallor, Tall stature, Optic disc hypoplasia, Depressed nasal bridge, Lateral ventricle...	ORPHA:420179
Adams-Oliver Syndrome 2	Depressed nasal bridge, Hydrocephalus, Bulbous nose, Optic atrophy, Lateral ventricle dilatation,...	OMIM:614219
Lissencephaly 4	Wide nasal bridge, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus call...	OMIM:614019
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ...	OMIM:617406
Bardet-Biedl Syndrome 4	Cryptorchidism, Rod-cone dystrophy, Obesity, Retinal degeneration	OMIM:615982
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Retinal pigment epithelial...	OMIM:614105
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Anteverted nares, Prominent nasal bridge, Hypospadias, P...	OMIM:617751
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Hernández-Aguirre Negrete Syndrome	Bulbous nose, Obesity	ORPHA:2139
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha...	OMIM:300148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Recurrent upper respiratory tract infections...	ORPHA:3078
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Joint contracture	OMIM:618266
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity	OMIM:300577
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu...	ORPHA:565624
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal bridge, Subependymal cy...	OMIM:610015
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Developmental And Epileptic Encephalopathy 36	Anteverted nares, Hydrocephalus, Flexion contracture, Optic atrophy, Self-mutilation	OMIM:300884
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Bardet-Biedl Syndrome 7	Rod-cone dystrophy, Depressed nasal bridge, Obesity	OMIM:615984
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Obesity, Retinal degeneration	OMIM:615993
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Bulbous nose, Lateral ventricle dilatation, Hypospadias	OMIM:618330
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Morm Syndrome	Truncal obesity, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Gombo Syndrome	Microphthalmia	OMIM:233270
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive, Retinopathy	ORPHA:26
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U...	OMIM:616108
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Lateral ventricle dilatat...	OMIM:617854
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Recurrent upper respiratory tract infections, Obesity, Ventriculomegaly	OMIM:300209
Macrocephaly, Acquired, With Impaired Intellectual Development	Narrow nasal bridge, Unilateral cryptorchidism, Anteverted nares, Impulsivity, Aggressive behavio...	OMIM:618286
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Lissencephaly 3	Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ...	OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric...	OMIM:607432
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P...	OMIM:617119
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Inability to walk, Wide nasal bridge, Lateral ventricle dilatation, Bruxism, Sho...	OMIM:615716
Spastic Paraplegia 88, Autosomal Dominant	Ventriculomegaly, Unsteady gait, Attention deficit hyperactivity disorder	OMIM:620106
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Chorioretinal hypopigmentation, Clitoral hypoplasia, ...	ORPHA:398079
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Pachygyria, Ventriculomegaly	OMIM:617613
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Syncope, Agitation, Palpitations, Diffu...	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Syncope, Agitation, ...	ORPHA:276580
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Ventriculomegaly, Periventricular ribbonlike heterotopia	OMIM:618677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly, Aggressive behavior	OMIM:612691
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata...	OMIM:617296
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Partial agenesis of the corpus callosu...	ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Simplified gyral pattern, Ventriculomegaly	OMIM:615763
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Atypical Teratoid Rhabdoid Tumor	Irritability, Hydrocephalus, Ataxia	ORPHA:99966
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Perisylvian polymicrogyria, Flexion contracture, Subdural hemorrhage...	OMIM:618291
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-on...	ORPHA:324575
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Depression, Pigmentary retinopathy, Focal T2 hyperintense thalami...	ORPHA:79264
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Abnormal retinal vasc...	ORPHA:791
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Obesity, Retinal degeneration	OMIM:615981
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight	ORPHA:324422
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Pol...	ORPHA:71529
Oliver-Mcfarlane Syndrome	Cryptorchidism, Small for gestational age, Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Bowen-Conradi Syndrome	Cryptorchidism, Camptodactyly of finger, Ventriculomegaly, Prominent nose	ORPHA:1270
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, External genital hypoplasia, Patent ductus arteriosus, Obesity, Hypogona...	OMIM:615996
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu...	ORPHA:179494
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Bulbous nose, Truncal obesity, Failure to thrive, Decreased testicular size	ORPHA:261483
Leukoencephalopathy With Vanishing White Matter 4	Unsteady gait, Optic atrophy, Primary amenorrhea, Secondary amenorrhea, Ventriculomegaly	OMIM:620314
Narcolepsy Type 1	Obesity	ORPHA:2073
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Tongue thrusting	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Obesity, Wide nasal bridge, Wide nasal base, Polyphagia, Self...	OMIM:616521
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
11P15.4 Microduplication Syndrome	Anteverted nares, Obesity	ORPHA:300305
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Gray matter heterotopia, Lateral ventricle dilatat...	OMIM:617397
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:204200
Alg2-Cdg	Lateral ventricle dilatation, Wide nasal bridge	ORPHA:79326
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Aggressive behavior, Prominent nose, Cryptorchidism, Simplified gyral pattern, Lateral ventricle ...	OMIM:619244
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Dil...	ORPHA:272
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea...	OMIM:614962
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Diffuse pancreatic isle...	ORPHA:276556
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema	OMIM:616570
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance, Aggressive behavior	ORPHA:85335
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia, Simplified gyral pattern, Ventriculomegaly	OMIM:613402
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent...	ORPHA:3282
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Ataxia, Depressed nasal bridge, Periventricular heterotopia, Aggressive behav...	OMIM:619833
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Steppage gait, Facial palsy	OMIM:256850
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Focal T2 ...	OMIM:613724
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ataxia, Aggressive behavior, Wide nasal bridge, Dysmetria, Athetosis, L...	ORPHA:572798
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogrypo...	ORPHA:250994
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Chorioret...	ORPHA:398069
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Pontocerebellar Hypoplasia, Type 13	Anteverted nares, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Failure to thrive...	OMIM:618606
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral ...	OMIM:613153
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Obesity, Macular degeneration, Tip-toe gait, Dysphagia, Agenesis of corpus callosum, Spas...	OMIM:604360
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissencephaly, Agenes...	ORPHA:1528
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Masa Syndrome	Gait disturbance, Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly	ORPHA:2466
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy, Gray matter heterotopia, Dysgyria, Type II...	ORPHA:352682
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Lateral ventricle dilatation, Dilated third ventricle, Scissor gait	ORPHA:363654
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Inability to walk, Optic atrophy, Failure to thrive, Ventriculomegaly	OMIM:619701
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Irritability, Lateral ventricle dilatation, Agitation, Dysphagia, Pachygyria...	ORPHA:2148
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary...	ORPHA:208447
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu...	ORPHA:66628
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Hypoplasia of penis, Diabetes insipidus, Optic nerve hypoplasia, Anterior ...	ORPHA:3157
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dil...	OMIM:618914
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip	OMIM:613670
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Obesity	ORPHA:85274
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Retinal dysplasia, Type II lissencephaly	ORPHA:324416
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Cryptorchidism, Small for gestational age, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
48,Xxyy Syndrome	Ventriculomegaly, Inguinal hernia, Hypergonadotropic hypogonadism, Ataxia, Abnormal dental enamel...	ORPHA:10
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm...	OMIM:146110
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Compulsive behaviors	ORPHA:500166
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Retinal dystrophy, Ataxia, Inability to walk, Obesity	OMIM:616756
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Depressed nasal bridge, Hypospadias, Aggressive behavior, Cryptorchidism, Bulbous ...	OMIM:300354
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphol...	ORPHA:54595
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi...	OMIM:615994
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:171703
Aicardi Syndrome	Retinal detachment, Anteverted nares, Spina bifida, Hiatus hernia, Dilated third ventricle, Chori...	OMIM:304050
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Undetectable visual evoked potentials, Chorioretinal coloboma, D...	ORPHA:163961
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulin...	ORPHA:3085
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, Colpocephaly, Incre...	OMIM:616034
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Aicardi-Goutieres Syndrome 9	Pericarditis, Portal hypertension, Optic atrophy, Chorioretinal atrophy, Weight loss, Irritabilit...	OMIM:619487
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Pachygyria	OMIM:618174
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia	OMIM:613885
Peho-Like Syndrome	Optic atrophy, Lissencephaly, Short nose, Pachygyria, Polymicrogyria, Ventriculomegaly	OMIM:617507
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell hyperplasi...	ORPHA:276608
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Optic atrophy, Decreased body weight, Abnormality of the hyp...	ORPHA:1672
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation, Inguinal hernia	ORPHA:85290
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gait ataxia, Gait imbal...	ORPHA:488635
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Overg...	ORPHA:649929
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Polydi...	OMIM:615986
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Nanophthalmos	Microphthalmia	ORPHA:35612
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins...	ORPHA:171706
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Ventriculomegaly And Arthrogryposis	Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle ...	ORPHA:488627
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Aggressive behavior, Bilateral cryptorchidism, Large for gestational age, Dyspla...	ORPHA:544488
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypertrophic cardiomyopathy	OMIM:620270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Summitt Syndrome	Obesity	OMIM:272350
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Microcephaly 5, Primary, Autosomal Recessive	Ventriculomegaly, Agenesis of corpus callosum, Simplified gyral pattern, Attention deficit hypera...	OMIM:608716
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Increas...	ORPHA:8
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Pachygyria, Lissencephaly, Polymicrogyria, Ventriculomegaly	OMIM:618730
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly	OMIM:303350
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, Pa...	OMIM:613870
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen	OMIM:608895
Slc35A2-Cdg	Limb joint contracture, Failure to thrive in infancy, Camptodactyly of finger, Precocious puberty...	ORPHA:356961
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Microcephaly 17, Primary, Autosomal Recessive	Bulbous nose, Simplified gyral pattern, Microlissencephaly, Failure to thrive, Agenesis of corpus...	OMIM:617090
Bainbridge-Ropers Syndrome	Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet craving, Polyphag...	ORPHA:33543
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Optic atrophy, Gray matter ...	OMIM:615191
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Abnormality of...	ORPHA:370968
Temple Syndrome	Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Maturity-onset di...	OMIM:616222
Nanophthalmos 4	Microphthalmia	OMIM:615972
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Abnormal autonomic nervous system physiology, Attention deficit hypera...	ORPHA:369873
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Obesity	ORPHA:276630
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria, Wide nasal bridge	OMIM:614870
Hsd10 Disease	Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior, Ve...	ORPHA:391417
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly, Gait ataxia	OMIM:616540
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Lethargy	ORPHA:73256
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Cryptorc...	ORPHA:314389
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Anencephaly 2	Anophthalmia	OMIM:619452
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation	OMIM:600721
Refsum Disease, Classic	Ataxia, Congestive heart failure, Anosmia, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Increa...	OMIM:266500
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Inguinal hernia, Ventriculomegaly	ORPHA:1568
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity	ORPHA:3055
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Luscan-Lumish Syndrome	Shyness, Aggressive behavior, Long nose, Irregular menstruation, Obesity, Polycystic ovaries, Ove...	OMIM:616831
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g...	OMIM:619302
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Inability to walk, Ataxia, Spastic gait, Ventriculomegaly	OMIM:616486
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Depressed nasal bridge, Aggressive behavior, Self-injurious behavior, Lateral vent...	OMIM:620075
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ataxia, Ventriculomegaly, Dysphagia	OMIM:613925
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Wide nasal bridge	OMIM:209970
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Gray matter heterotopia, Facial diplegia, Tip-toe gait, Difficulty w...	ORPHA:370980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Hydrocephalus, Inability to walk by childhood/adolescence, Optic atrophy, Flexion ...	ORPHA:99947
Developmental And Epileptic Encephalopathy 97	Inability to walk, Ventriculomegaly, Stereotypical hand wringing	OMIM:619561
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Ataxia, Overweight, Inability to walk, Obesity, Lateral ventricle dilatation, A...	OMIM:619229
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy, Steppage ga...	OMIM:601152
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Cryptorchidism, Lateral ventricle dilatation, Dysphagia, Micropenis	OMIM:619847
Distal Deletion 10Q	Ataxia, Prominent nasal bridge, Aggressive behavior, Prominent nose, Patent ductus arteriosus, Un...	ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Inability to walk, Hydrocephalus, Flexion contracture, Abnormal ...	OMIM:613155
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n...	ORPHA:177907
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertens...	OMIM:615703
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility	OMIM:617593
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Retinal dystrophy, Depressed nasal bridge, Hypospadias...	ORPHA:397715
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Bulbous nose, Obesity	OMIM:300238
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms...	OMIM:617862
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno...	OMIM:610628
Krabbe Disease	Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Hydrocephalus, Opti...	OMIM:245200
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Chorio...	OMIM:220220
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Rod-cone dystrophy, Retinal coloboma, Obesity	ORPHA:363741
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Hypoplasia of penis, Retinal dystrophy, Chorioretinal dyspl...	ORPHA:899
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran...	ORPHA:457279
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric...	OMIM:619995
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir...	ORPHA:644
Weaver Syndrome	Inguinal hernia, Depressed nasal bridge, Cryptorchidism, Patent ductus arteriosus, Hydrocele test...	OMIM:277590
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Loss of ambulation, ...	OMIM:618241
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility	OMIM:619672
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality of neuronal mig...	OMIM:300957
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct...	ORPHA:171839
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Shyness, Overweight, Inability to walk, Bulbous nose, Flexion contracture, Wide na...	OMIM:614066
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuo...	ORPHA:104
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Polyphagia	ORPHA:329249
Gorlin Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t...	ORPHA:377
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Inability to walk, Flexion contracture...	OMIM:615547
Cog5-Cdg	Camptodactyly of finger, Prominent nose, Cryptorchidism, Wide nasal bridge, Lateral ventricle dil...	ORPHA:263487
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism, Delayed puberty	ORPHA:141333
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Simplified gyral pattern, Dysmetria, Abnormal optic disc morphol...	ORPHA:96121
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Ventriculomegaly, Occipital encephalocele, Optic ne...	ORPHA:370959
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Trisomy 5P	Hypoplasia of penis, Obesity, Ventriculomegaly	ORPHA:1742
Summitt Syndrome	Wide nose, Depressed nasal ridge, Obesity, Tall stature	ORPHA:3210
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hydrocephalus, Obesity, Azoospermia, Abnormality of the hypothala...	ORPHA:2183
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive manneris...	OMIM:619150
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventriculomegaly	ORPHA:2515
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Late...	OMIM:300952
Scheie Syndrome	Wide nose, Depressed nasal bridge, Retinal degeneration	OMIM:607016
Hemimegalencephaly	Ventriculomegaly, Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal ne...	ORPHA:99802
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C...	ORPHA:3077
Idiopathic Intracranial Hypertension	Papilledema, Obesity, Depression, Focal sensory seizure with olfactory features, Abnormal emotion...	ORPHA:238624
Trimethylaminuria	Hypertension, Tachycardia, Depression	OMIM:602079
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Hematoc...	OMIM:619575
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Hydrocephalus, Overgrowth, Hernia, Polymicrogyria, Ventriculomegaly	OMIM:602501
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly	ORPHA:858
Atkin-Flaitz Syndrome	Macroorchidism, Anteverted nares, Obesity, Broad nasal tip	ORPHA:1193
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia	OMIM:600274
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Abnormal fallopian...	ORPHA:2189
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia, Polyphagia	OMIM:617885
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Compulsive behaviors, Abnorma...	OMIM:615873
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Patent duc...	ORPHA:261102
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Depressed nasal ridge, Absent nares, Holopr...	ORPHA:2162
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Increased body mass index, Enlarged pituitary gland, Ataxia, De...	ORPHA:300373
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib...	OMIM:607485
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Obesity	OMIM:615985
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Optic atrophy, Obesity	OMIM:614651
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Anteverted nares, Hypospadias, Aggressive behavior, Inability to walk, Pulmonary...	ORPHA:464738
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Anteverted nares, Hydrocephalus, Patent du...	OMIM:612863
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela...	OMIM:147950
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Aganglionic megacolon, Optic nerve hypoplasia, Pachygyria, Dysplastic c...	ORPHA:171680
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Diabetes mellitus, Small for gestational age	OMIM:619278
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
6Q16 Microdeletion Syndrome	Broad-based gait, Anteverted nares, Depressed nasal bridge, Bulbous nose, Obesity, Abnormal tempe...	ORPHA:171829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Inability to walk, Cryptorchidism, Flexion contracture, Pigmentary retinopathy, Lef...	OMIM:613156
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Superficial Siderosis	Enlarged sylvian cistern, Ataxia, Partial anosmia, Abnormal cerebrospinal fluid morphology, Subar...	ORPHA:247245
Adiposis Dolorosa	Obesity	OMIM:103200
Coproporphyria, Hereditary	Hypertension, Tachycardia, Depression	OMIM:121300
Spermatogenic Failure, X-Linked, 6	Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Agenesis of corpu...	OMIM:618577
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Camptodactyly of ...	OMIM:175700
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal at...	ORPHA:1135
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Developmental And Epileptic Encephalopathy 59	Inability to walk, Self-injurious behavior, Ataxia, Ventriculomegaly	OMIM:617904
14Q11.2 Microduplication Syndrome	Depressed nasal bridge, Aggressive behavior, Hypothyroidism, Obesity, Wide nasal bridge, Attentio...	ORPHA:261229
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Ventriculom...	OMIM:301107
Glutaric Acidemia I	Choreoathetosis, Lateral ventricle dilatation, Failure to thrive, Hydrocephalus	OMIM:231670
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Cerebral ischem...	ORPHA:60040
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, L...	OMIM:611209
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella	OMIM:617752
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Hypogonadotropic hypogonadism	OMIM:615266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Hydrocephalus, Flexion contracture, Lissencephaly, Agenesis of corpus call...	OMIM:615249
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Dysmetria, Dysdiadochokinesis, Ga...	ORPHA:96
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Weight loss, Depression, Irritability, Gait ataxia, Brad...	ORPHA:248111
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation, Ventr...	OMIM:616116
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Lack of facial subcutaneous fat, Decreased serum leptin, Underdeveloped nasa...	OMIM:614098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Mosaic Trisomy 1	Omphalocele, Depressed nasal bridge, Camptodactyly of finger, Congenital diaphragmatic hernia, El...	ORPHA:1692
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Rod-cone dystrophy, Retinal atrophy, Wide nasal bridge	OMIM:610127
Rafiq Syndrome	Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesity, Underdevelo...	OMIM:614202
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital stationary night blindness, Wide nasal bridge, Obesity	ORPHA:352530
Nasu-Hakola Disease	Hydrocephalus, Irritability, Abnormal adipose tissue morphology, Disinhibition, Ventriculomegaly	ORPHA:2770
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Multiple joint contractures, Dys...	ORPHA:363429
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Ataxia, Optic atrophy, Lethargy, Hypertrophic cardiomyopathy, Failure to thriv...	OMIM:618228
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent nose, Abnormal preputium morphology, Bulbous nose, Choroid plexus cyst, Glandular hypos...	ORPHA:293725
Peroxisome Biogenesis Disorder 9B	Ataxia, Total anosmia, Anosmia, Cardiomyopathy, Rod-cone dystrophy	OMIM:614879
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Pachygyria, Agenesis of corpus callosum, Self-mutilation, Oppositional def...	OMIM:607872
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Anteverted nares, Retinal degeneration	OMIM:616211
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Smith-Magenis Syndrome	Retinal detachment, Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Preco...	ORPHA:819
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stimulation test, B...	ORPHA:485405
Noonan Syndrome 14	Aortic regurgitation, Prominent nasal bridge, Cryptorchidism, Lateral ventricle dilatation, Promi...	OMIM:619745
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Depression, Bradykinesia, Male sexual dysfunction, Agitation, Abnorma...	ORPHA:2828
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Increased CSF lactate, Irritability, Increased CSF glycine concentration, Arthrogr...	OMIM:615330
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Pick Disease Of Brain	Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl...	OMIM:172700
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpu...	OMIM:620352
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Aganglionic megacolon, Hydrocephalus, Ventriculomegaly	OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria, Type II lissencephaly	OMIM:615181
Gabriele-De Vries Syndrome	Waddling gait, Broad nasal tip, Cryptorchidism, Lateral ventricle dilatation, Tip-toe gait, Dista...	OMIM:617557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Dandy-Walker malformation, Subcortical heterotopia, Remnants o...	OMIM:614643
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Bulbous nose, Obesity	ORPHA:85286
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Inguinal hern...	OMIM:261550
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia, Anteverted nares	ORPHA:1532
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, CSF pleocytosis, Syncope, Gait disturbance, De...	OMIM:603472
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Ataxia, Prominent nose, Wide nasal bridge, Attention deficit hyperactivity disorder, Impaired soc...	ORPHA:137831
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Ataxia, Periventricular heterotopia, Hydrocephalus, Bulbous nose, Optic atrophy...	OMIM:618476
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic a...	OMIM:618651
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Anosmia, Primary amenorrhea, Decrease...	OMIM:614897
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip...	OMIM:609757
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Optic atrophy, Camptodactyly of finger, Ventriculomegaly	ORPHA:1495
11Q22.2Q22.3 Microdeletion Syndrome	Depressed nasal bridge, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, ...	ORPHA:444002
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Pierpont Syndrome	Small for gestational age, Abnormal cortical gyration, Wide nasal ridge, Cryptorchidism, Abnormal...	ORPHA:487825
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Agg...	OMIM:615286
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Prominent nasal bridge, Retinal dystrophy, Obesity, Rod-cone dystrophy	ORPHA:261222
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Depressed nasal bridge, Macular coloboma, Abnormal auditory evoked potentials,...	OMIM:619260
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Failure to thrive, Inguinal hernia, Anteverted nares, Femoral hernia, Hypop...	ORPHA:96147
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Angelman Syndrome	Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggres...	ORPHA:72
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland...	OMIM:612702
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Gait ataxia, Depression, Emotional lability, Ventriculomegaly	OMIM:615362
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Broad-based gait, Ataxia, Telangiectases producing 'marbled' skin, Hypertension, Emotional labili...	OMIM:206570
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Ventriculomegaly, Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Po...	OMIM:614254
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Slender build, Ventriculomegaly, Aggressive behavior	OMIM:300699
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Agi...	ORPHA:85282
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Male hypogonad...	OMIM:300055
Hsd10 Mitochondrial Disease	Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration	OMIM:300438
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait ataxia, Br...	OMIM:601338
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Anorexia, Congestive heart failure, Paroxys...	ORPHA:49827
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Man1B1-Cdg	Broad-based gait, Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Trun...	ORPHA:397941
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia	ORPHA:177910
Pettigrew Syndrome	Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Prominent nose, Hydrocephalus, Flexio...	OMIM:304340
Cornelia De Lange Syndrome 5	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism...	OMIM:300882
Severe Early-Childhood-Onset Retinal Dystrophy	Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re...	ORPHA:364055
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Optic atrophy, Polymicrogyria, Agyria, Ventriculo...	OMIM:617255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Decreased nerve conduction velocity, Tr...	ORPHA:2928
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Prominent nose, Optic atrophy, Retinopathy	OMIM:616171
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bulbous nose, Obesity	ORPHA:480907
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Intellectual Developmental Disorder, Autosomal Recessive 69	Ataxia, Ventriculomegaly	OMIM:618383
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly	ORPHA:945
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Optic atrophy, Simplified gyral pattern, Increased CSF la...	OMIM:618253
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Obesity, Retinal degeneration, Ventriculomegaly	OMIM:615630
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Unsteady gait, Depression, S...	ORPHA:485350
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ...	ORPHA:228402
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:616629
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Aortic regurgitation, Hyperactivity, Anteverted nares, Hypospadias, Precocio...	ORPHA:254346
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Baraitser-Winter Syndrome 1	Anteverted nares, Pachygyria, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Microp...	OMIM:243310
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,...	OMIM:618774
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Dilated third ventricle, Hydrocepha...	ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Broad nasal tip, Hydrocephalu...	OMIM:620157
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Chung-Jansen Syndrome	Cryptorchidism, Short nose, Anteverted nares, Obesity	OMIM:617991
X-Linked Intellectual Disability, Stevenson Type	Thick nasal alae, Obesity, Tall stature, Broad columella	ORPHA:85325
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te...	OMIM:606407
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop...	OMIM:308750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, V...	ORPHA:1933
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Wide nasal bridge, Umbilical hernia, Agenesis of ...	ORPHA:380
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity	OMIM:264120
Cln3 Disease	Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradykinesia, Pig...	ORPHA:228346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hydrocephalus, Flexion contracture, Optic atrophy, Dil...	OMIM:253800
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Ataxia, Anteverted nares, Prominent nasa...	ORPHA:220493
17P13.3 Microduplication Syndrome	Wide nose, Inguinal hernia, Tall stature, Hypoplasia of penis, Short nose, Ventriculomegaly	ORPHA:217385
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr...	ORPHA:525731
Refsum Disease	Abnormality of retinal pigmentation, Ataxia, Heart block, Anosmia, Cardiomyopathy, Retinopathy	ORPHA:773
Congenital Disorder Of Glycosylation, Type Iiy	Agenesis of corpus callosum, Ventriculomegaly	OMIM:620200
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Christianson Syndrome	Cachexia, Abnormality of the nose, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia...	ORPHA:85278
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Spastic gait, Difficulty walking	ORPHA:401815
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ...	ORPHA:449285
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Short columella, Retinal colobo...	OMIM:619775
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Dysmetria, Loss of ambulation, Spastic gait, Ventriculomegaly	OMIM:616680
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body...	OMIM:182290
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Underdeveloped nasal alae, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge, Umbilical ...	ORPHA:1516
Coach Syndrome 2	Hypertension, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma	OMIM:619111
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Flexion contracture, Ventriculomegaly	OMIM:618298
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Depressed nasal bridge, Dysplastic corpus callosum, Colpocephaly, Agenesis...	OMIM:619955
Radio-Tartaglia Syndrome	Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Depressed nasal bridge, Prominent nas...	OMIM:619312
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Inability to walk, Hyd...	ORPHA:505248
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:85179
White-Sutton Syndrome	Waddling gait, Hyperactivity, Depressed nasal bridge, Optic nerve hypoplasia, Congenital diaphrag...	OMIM:616364
Clark-Baraitser syndrome	Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature	OMIM:300602
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Simplified gyral pattern, Hypoplastic optic chiasm, Extra-axial cerebrospinal flui...	OMIM:617669
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi...	OMIM:614841
Variegate Porphyria	Tachycardia	OMIM:176200
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Retinal dystrophy, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, ...	ORPHA:464282
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Rod-cone dystrophy, Obesity	OMIM:615633
Microhydranencephaly	Multiple joint contractures, Prominent nasal bridge, Athetosis, Hydranencephaly, Pachygyria, Agen...	OMIM:605013
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Abnormality...	ORPHA:1947
Lissencephaly 6 With Microcephaly	Anteverted nares, Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosu...	OMIM:616212
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Mitral regurgitation, Polymicro...	ORPHA:83473
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia, Delayed puberty	OMIM:615271
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Anteverted nares, Flared nostrils, Wide nasal bridge, Increased CSF la...	OMIM:312170
Fg Syndrome Type 1	Broad-based gait, Inguinal hernia, Progressive flexion contractures, Optic nerve hypoplasia, Choa...	ORPHA:93932
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia, Cryptorchidism, Dilated ca...	ORPHA:261250
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Perisylvian polymicrogyria, Knee flexion contracture, Arthr...	OMIM:616531
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity	ORPHA:2180
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Optic atrophy, Cardiomyopathy, Ab...	ORPHA:1215
Choreoacanthocytosis	Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Self-...	ORPHA:2388
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Ventriculomegaly	ORPHA:521390
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis	OMIM:301900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irritability, Leth...	OMIM:618321
Immunodeficiency 61	Obesity, Recurrent sinusitis	OMIM:300310
Mmep Syndrome	Microphthalmia	ORPHA:3434
Alexander Disease Type I	Ataxia, Cachexia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to th...	ORPHA:363717
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Optic nerve compression, Optic atrophy, Hydrocephalus	OMIM:612301
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Incr...	ORPHA:99330
Wilson-Turner Syndrome	Truncal obesity, Broad nasal tip, Cryptorchidism	ORPHA:3459
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Bulbous nose, Abdominal obesity, Decreased testicular ...	OMIM:300869
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Anteverted nares	OMIM:618731
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Abnormality of neuronal ...	ORPHA:163681
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
48,Xxxy Syndrome	Inguinal hernia, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Pulmonary...	ORPHA:96263
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Increased body weight, Agitation, Pancr...	ORPHA:263455
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d...	OMIM:614837
Lissencephaly, X-Linked, 2	Prominent nasal bridge, Wide nasal bridge, Lissencephaly, Ambiguous genitalia, Micropenis, Pachyg...	OMIM:300215
Chromosome 19P13.13 Deletion Syndrome	Optic nerve hypoplasia, Optic atrophy, Self-injurious behavior, Overgrowth, Ventriculomegaly	OMIM:613638
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Dysmetria, Abnormality of periphe...	ORPHA:48431
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Infantile Neuroaxonal Dystrophy	Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Flexion contracture, Gait distu...	ORPHA:35069
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Optic atr...	OMIM:616878
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus, Disproportionate tall stature, Gait disturbance, Umbilical h...	ORPHA:2181
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Wide nasal bridge, Fixated intere...	OMIM:617788
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Dandy-Walker malformation, Retinal atrophy, Agyria, Optic nerve hypoplasia, V...	OMIM:236670
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Small for gestational age, Patent ductus arteriosus,...	OMIM:619869
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus, Bicornuate uterus	OMIM:258320
3C Syndrome	Ventriculomegaly, Inguinal hernia, Depressed nasal bridge, Hypoplasia of penis, Hypospadias, Adre...	ORPHA:7
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ...	ORPHA:255182
Hyperostosis Cranialis Interna	Hyposmia, Anosmia, Optic atrophy, Facial palsy	OMIM:144755
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Retinal dystrophy, Lateral ventricle dilatation, Ambiguous genitalia, Mi...	OMIM:263520
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Depressed nasal bridge, Hypospadias, Flexion contracture, Wide nasal bridge, Lateral ventricle di...	OMIM:619479
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Optic Pathway Glioma	Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Inguinal hernia, Ataxia, Prominent nasal bridge, Diabetes mellitus, Broad nasal...	OMIM:616541
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Pontocerebellar Hypoplasia, Type 9	Irritability, Optic atrophy, Ventriculomegaly, Dysphagia	OMIM:615809
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Macdermot-Winter Syndrome	Camptodactyly of finger, Ventriculomegaly, Hypoplastic male external genitalia	OMIM:247990
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Anteverted nares, Hydrocephalus, Myelomeningocele, Optic...	ORPHA:1914
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Wide nose, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Broad na...	OMIM:600430
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus, Tall stature	OMIM:236660
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, Cryptorchidism, O...	ORPHA:96184
Beta-Mercaptolactate Cysteine Disulfiduria	Convex nasal ridge, Anteverted nares, Obesity	ORPHA:1035
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Flexion contracture...	ORPHA:141
Rabin-Pappas Syndrome	Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telangiectasia,...	OMIM:620155
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hereditary Late-Onset Parkinson Disease	Impulsivity, Akinesia, Weight loss, Depression, Bradykinesia, Agitation, Low frustration toleranc...	ORPHA:411602
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Facial palsy, Elbow contracture, Achilles tendon contracture, Tip-toe gait, Difficulty walking, D...	OMIM:606612
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:605231
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Megalencephaly	Macroorchidism, Truncal obesity, Wide nasal bridge	ORPHA:2477
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu...	OMIM:614880
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size	OMIM:614838
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum...	OMIM:615433
Neurodegeneration With Brain Iron Accumulation 2A	Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Impaired social intera...	OMIM:256600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Increased CSF protein concentration, Decreased nerve c...	OMIM:218000
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Hydro...	OMIM:300558
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:616562
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ataxia, Ventriculomegaly	ORPHA:1188
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79444
Chromosome 16P13.3 Deletion Syndrome, Proximal	Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low hanging columella	OMIM:610543
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Dandy-Walker malformation, Akinesia, Hydrocephalus, Hydranencephaly, Joint contracture, Polymicro...	OMIM:225790
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Gray matter heterotopia, Cervical myelopat...	OMIM:207950
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Hyperactivity, First degree atrioventricular block, Patent ductus arteriosus...	ORPHA:589821
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration	OMIM:249270
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hypop...	ORPHA:2510
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Inability to walk, Joint contracture, Ventriculomegaly	OMIM:617977
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Alg6-Cdg	Rod-cone dystrophy, Failure to thrive, Retinal degeneration	ORPHA:79320
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur...	ORPHA:206443
Isochromosomy Yq	Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Kleefstra Syndrome	Hypoplasia of penis, Anteverted nares, Hypospadias, Aggressive behavior, Cryptorchidism, Obesity,...	ORPHA:261494
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormality of the sense of...	OMIM:616113
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Depressed nasal...	ORPHA:94065
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria	OMIM:203450
Joubert Syndrome 30	Gray matter heterotopia, Dandy-Walker malformation, Retinal dystrophy, Ventriculomegaly	OMIM:617622
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Inguinal hernia, Congenital diaphragmatic hernia, ...	ORPHA:96170
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Hydrocep...	OMIM:309801
Wagro Syndrome	Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolerance, Impaired social...	OMIM:612469
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ...	OMIM:618273
5Q14.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Short nose, Abnormal repetitive mannerisms, Ventriculom...	ORPHA:228384
Trisomy 18P	Facial palsy, Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal bridge, Attention d...	ORPHA:1715
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension, Ventriculomegaly, Increased CSF lactate	OMIM:619059
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Gait disturbance, Holoprosencephaly	ORPHA:588
Pseudopseudohypoparathyroidism	Depressed nasal bridge, Obesity	OMIM:612463
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual...	ORPHA:168491
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Pulmo...	OMIM:601186
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a...	ORPHA:98855
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Inability to walk, Flexion contracture, Optic atrophy, Wid...	OMIM:619383
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Ciliary Dyskinesia, Primary, 1	Male infertility, Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia...	OMIM:244400
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ...	OMIM:614858
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Obesity	ORPHA:254531
Cockayne Syndrome A	Prominent nose, Micropenis, Loss of facial adipose tissue, Retinal atrophy, Ataxia, Cryptorchidis...	OMIM:216400
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79443
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Prominent nose, Ventriculomegaly, Dysphagia	OMIM:619527
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Hypopituitarism, Remnants of the hyaloid vascul...	OMIM:603671
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Agenesis of corpus callosum...	OMIM:218350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Anteverted nares, Depressed nasal bridge, Large for gestational age, Birth lengt...	OMIM:300868
Laurence-Moon Syndrome	Hypoplasia of penis, Ataxia, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of ...	ORPHA:2377
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Anteverted nares, Aggressive behavior, Precocious puberty, Bulbo...	OMIM:300958
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Peroxisome Biogenesis Disorder 5A (Zellweger)	Lethargy, Pachygyria, Agenesis of corpus callosum, Tricuspid regurgitation, Hypospadias, Cryptorc...	OMIM:614866
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
White Sponge Nevus 2	Edema	OMIM:615785
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Hyposmia, Micropenis	OMIM:244200
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased testicular size, Reduced subcutaneous adipose tissue, External genital hypoplasia, Broa...	ORPHA:3041
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Ataxia, Anteverted nares, Prominent nasa...	ORPHA:2318
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Ataxia, Anteverted nares, Prominent nasal bridge, Hydroceph...	ORPHA:220497
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Congestive heart failure, Wide nasal bridge, Pigmentary retino...	OMIM:253250
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Restlessness, Ataxia, Facial palsy, Abnormal cerebrospinal fluid morphology,...	ORPHA:68
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Orofaciodigital Syndrome Xvi	Inguinal hernia, Ataxia, Depressed nasal bridge, Inability to walk, Gray matter heterotopia, Reti...	OMIM:617563
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Short nose	OMIM:614613
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Flexion contracture, Hype...	OMIM:613327
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Aqueductal stenosis, Precocious pu...	ORPHA:58
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Agenesis of corpus callosum, Abnormal repetitive mann...	ORPHA:1606
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Colpocephaly, Congenital contracture, Polymicrogyria, Agenesis of corpus callosum,...	OMIM:620156
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
6Q25 Microdeletion Syndrome	Camptodactyly of finger, External genital hypoplasia, Wide nasal bridge, Failure to thrive, Agene...	ORPHA:251056
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a...	ORPHA:98853
Peroxisomal Acyl-Coa Oxidase Deficiency	Depressed nasal bridge, Optic atrophy, Gait disturbance, Abnormality of visual evoked potentials,...	ORPHA:2971
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Ventriculomegaly	OMIM:115210
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Ataxia, Hydrocephalus, Optic atrophy, Dys...	ORPHA:93400
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Ambiguous g...	ORPHA:452
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy...	ORPHA:26793
Bardet-Biedl Syndrome	Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Obesity, Pigmentary retinopathy, Hyp...	ORPHA:110
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Prominent nasal bridge, Prominent nose, Cryptorchidism, Flexion contra...	OMIM:214150
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Prominent nasal bridge, Inability to walk, Wide nasal bridge, Attention deficit hyperacti...	OMIM:619556
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Anosmia, Bradykinesia, Gait disturbance, Dysphagia, Hyposmia	OMIM:606693
Spinocerebellar Ataxia Type 1	Abnormal flash visual evoked potentials, Optic atrophy, Dysmetria, Bradykinesia, Progressive cere...	ORPHA:98755
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Lissencephaly, Umbilic...	OMIM:612938
Johnson Neuroectodermal Syndrome	Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive	ORPHA:2316
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Hernia	ORPHA:251046
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prominent nose, Partial agenesis of the corpus callosum, Flexion contracture, Microlissencephaly,...	OMIM:210710
Trisomy 1Q	Omphalocele, Wide nose, Small scrotum, Depressed nasal bridge, Camptodactyly of finger, Congenita...	ORPHA:261344
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Depressed nasal bridge, Prominent nose, Bulbous nose, Obesity, Prominent nasal tip, Underdevelope...	OMIM:620191
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Pigmentary retin...	OMIM:612582
Joubert Syndrome 14	Encephalocele, Ataxia, Prominent nasal bridge, Morning glory anomaly, Hydrocephalus, Meningocele,...	OMIM:614424
Mepan Syndrome	Ataxia, Optic atrophy, Gait disturbance, Dysphagia, Abnormality of visual evoked potentials, Fail...	ORPHA:508093
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Choanal atresia, Convex nasal ridge	ORPHA:93262
Warburg Micro Syndrome 3	Small scrotum, Inability to walk, Hypoplastic labia minora, Flexion contracture, Optic atrophy, M...	OMIM:614222
Tetanus	Tachycardia, Dysphagia, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology, ...	ORPHA:3299
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Patent ...	ORPHA:500159
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Obesity	OMIM:618821
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Abnormal retinal morphology on macular OCT, Hypertens...	ORPHA:251004
Pontocerebellar Hypoplasia, Type 7	Ataxia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Optic atrophy, Wide nasal bridge, Choreoa...	OMIM:614969
Myopathy, Centronuclear, X-Linked	Facial palsy, Cryptorchidism, Hydrocephalus, Birth length greater than 97th percentile, Flexion c...	OMIM:310400
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular a...	ORPHA:98863
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip...	OMIM:617302
Hogue-Janssen Syndrome 2	Anteverted nares, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ven...	OMIM:616362
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Cryptorchidism, Hydrocephalus,...	ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Hydrocephalus, Patent ductus arteriosus, Optic atrophy, Enamel hypopl...	OMIM:614576
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Meningocele, Abnormality of neuronal migration, Intracranial...	ORPHA:2481
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Ataxia, Unsteady gait, Obesity, Loss of ambulation	OMIM:618124
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:79323
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Micropeni...	OMIM:619180
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Amish Lethal Microcephaly	Spina bifida, Optic atrophy, Irritability, Lissencephaly, Agenesis of corpus callosum, Ventriculo...	ORPHA:99742
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco...	OMIM:209900
Pontocerebellar Hypoplasia Type 2	Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Choreoathetosi...	ORPHA:2524
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Ataxia, Aggressive behavior, Optic atrophy, Dysmetria, Athetosis, Cardiom...	OMIM:617710
8P11.2 Deletion Syndrome	Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cr...	ORPHA:251066
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435660
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Wa...	OMIM:617281
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Ventriculomegaly, Dysmetria	OMIM:618251
Adnp Syndrome	Inguinal hernia, Depressed nasal bridge, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorc...	ORPHA:404448
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Short nose, ...	ORPHA:1895
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal testis morphology, Obesity	ORPHA:2233
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Optic disc pallor, Ventriculomegaly	OMIM:613730
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Wide nasal bridge	OMIM:613192
Marcus-Gunn Syndrome	Choanal atresia, Abnormal fifth cranial nerve morphology, Morning glory anomaly, Abnormality of t...	ORPHA:91412
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Aggressive behavior, Bulbous nose, Patent ductus arterio...	ORPHA:284169
Joubert Syndrome 37	Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Decreased testicular size	OMIM:619185
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Spastic Paraplegia 50, Autosomal Recessive	Optic disc pallor, Ataxia, Wide nasal ridge, Bulbous nose, Ventriculomegaly	OMIM:612936
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Inability to walk, Dilated cardiomyopathy, Right bundle branch block, Difficulty walking, Left ve...	ORPHA:206559
Tatton-Brown-Rahman Syndrome	Tall stature, Tricuspid regurgitation, Anteverted nares, Optic nerve hypoplasia, Mitral regurgita...	OMIM:615879
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Limb ataxia, Increased CSF lactate, Undetectable visual evoked potential...	OMIM:619051
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Inguinal hernia, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618603
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Anteverted nares, Hydrocepha...	ORPHA:2969
Oxoglutarate Dehydrogenase Deficiency	Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly	OMIM:203740
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta	OMIM:182940
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age, Wide nasal bridge	OMIM:618302
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Knee flexion contracture, Mitral regurgitation, Overgrowth, Pachygyria, Polymicrog...	OMIM:603387
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,...	ORPHA:263297
Myotonic Dystrophy 2	Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog...	OMIM:602668
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Abnormality of ne...	ORPHA:93274
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Temtamy Syndrome	Aortic regurgitation, Convex nasal ridge, Chorioretinal coloboma, Agenesis of corpus callosum, Se...	OMIM:218340
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Rett Syndrome	Inability to walk, Increased CSF lactate, Bradykinesia, Agitation, Abnormal autonomic nervous sys...	ORPHA:778
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia, Patent ductus arteri...	OMIM:618974
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, ...	ORPHA:1812
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Abnormal repetitive mannerisms,...	OMIM:617807
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Perisylvian polymicrogyria, Dysmetria, Truncal ataxia, ...	OMIM:606854
Orofaciodigital Syndrome Xv	Anteverted nares, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	OMIM:617127
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Camptodactyly of finger, Abnormality of the sense of smell	ORPHA:3201
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Flexion contracture, Optic atrophy, Irritability, Facial telangiectasia, Short nose, F...	OMIM:615851
Laron Syndrome	Aplasia/Hypoplasia involving the nose, Truncal obesity, Hypoplastic nasal bridge, Depressed nasal...	ORPHA:633
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Attention deficit hyperactivity disord...	ORPHA:261197
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Pseudohypoparathyroidism, Type Ic	Depressed nasal bridge, Choroid plexus calcification, Elevated circulating thyroid-stimulating ho...	OMIM:612462
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum	OMIM:302950
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Corneal scarring, Pigmen...	OMIM:618460
Scalp-Ear-Nipple Syndrome	Anteverted nares, Depressed nasal bridge, Congestive heart failure, Multiple lipomas, Lateral ven...	OMIM:181270
Monosomy 18Q	Left-to-right shunt, Depressed nasal bridge, Abnormal retinal morphology, Prominent nose, Bilater...	ORPHA:1600
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism	OMIM:612370
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Anteverted nares, Obesity	OMIM:619056
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Ga...	OMIM:229300
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, ...	ORPHA:2701
Rere-Related Neurodevelopmental Syndrome	Anteverted nares, Choanal atresia, Hypospadias, Cryptorchidism, Optic atrophy, Self-injurious beh...	ORPHA:494344
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur...	ORPHA:860
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Desmosterolosis	Failure to thrive, Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose, P...	ORPHA:35107
Nephronophthisis 18	Hypertension, Hydrocephalus, Retinitis	OMIM:615862
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Facial diplegia, Attent...	OMIM:619121
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Ataxia, Anteverted nares, Bulbous nose, Optic atrophy, Unilateral facial palsy, Rod-cone dystroph...	OMIM:618547
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Noncommunicating hydrocephalus, Wide...	OMIM:619320
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Abnormal auditory evoked potentials	OMIM:109120
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Flexion contracture, Hypothyroidism, Ventriculomegaly	OMIM:619851
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Ventriculomegaly	ORPHA:457260
Optic Atrophy 8	Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Optic atrop...	OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus	OMIM:300886
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Ataxia, Anteverted nares, Prominent nasal bridge, Porta...	ORPHA:1454
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression, Gait disturbance	ORPHA:275543
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Ataxia, Attention deficit hyperactivity disorder, Pachygyria, Abnormal thalamus...	ORPHA:467166
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Ataxia, Anteverted nares, Hydrocephalus, Abnormalit...	ORPHA:59315
Chromosome 2P16.1-P15 Deletion Syndrome	Depressed nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Recurrent upper respiratory tract...	OMIM:612513
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Depressed nasal bridge, Anteverted nares, Bulbous nose, Self-injurious behavior, Recurrent hand f...	OMIM:617268
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Partial agenesis of the corpus callosum, Optic atrophy, Increased CSF lactate, Increased cup-to-d...	ORPHA:500144
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Wide nasal bridge, Hypertension, Lateral ventricle dilatation, Enamel hypo...	OMIM:300896
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Ventriculomegaly, Hydrocele testis, Increased serum testosterone level, Rod-cone...	ORPHA:96181
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Co...	OMIM:609053
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Emanuel Syndrome	Dandy-Walker malformation, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hydr...	OMIM:609029
Microtriplication 11Q24.1	Wide nose, Obesity	ORPHA:289522
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease...	ORPHA:2234
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Choanal atresia, Convex nasal ridge	ORPHA:207
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrocephalus, Failure to thrive, Anteverted nares	OMIM:269920
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Optic nerve hypoplasia, Depressed nasal bridge, Transient ischemic ...	ORPHA:500150
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Obesity, Short nose, Tall stature	OMIM:618430
Congenital Neuronal Ceroid Lipofuscinosis	Pachygyria, Agenesis of corpus callosum, Wide nasal bridge, Ventriculomegaly	ORPHA:168486
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:816
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Alg8-Cdg	Small for gestational age, Ataxia, Abnormality of subcutaneous fat tissue, Optic atrophy, Camptod...	ORPHA:79325
Pallister-Hall-Like Syndrome	Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Micropenis, Hypothalamic hamartom...	OMIM:241800
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Ventriculomegaly, Inguinal hernia, Optic nerve hypoplasia, Facial palsy, Pr...	ORPHA:261349
Carpenter Syndrome 1	Omphalocele, Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchid...	OMIM:201000
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Prominent nose, Bulbous nose, Depressed nasal ridge, Micropenis, Sel...	OMIM:156200
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptorchidism, Obesit...	ORPHA:412035
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Optic atrophy, Shuffling gait, Attention ...	ORPHA:52368
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Ataxia, Anteverted nares, Prominent nasal bridge, Hydroceph...	ORPHA:475
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Clitoral hypertrophy, Diabetes mellitus, Lipodystrophy, Redu...	OMIM:608594
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia, Hypogonadism, Absence of pubertal development	OMIM:615267
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal sc...	OMIM:610965
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Simplified gyral pattern, Knee flexion contracture, Microphallus, Pa...	ORPHA:468631
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Ataxia, Unsteady gait, Optic ...	OMIM:614947
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Large for gestational age, Obesity, Hydrocele testis, Overgrowth, Short nose	OMIM:605309
Rasmussen Subacute Encephalitis	Hyperactivity, Abnormal cerebrospinal fluid morphology, Inability to walk, Irritability, Attentio...	ORPHA:1929
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Clitoral hypertrophy, Lipodystrophy, Reduced intraabdominal ...	OMIM:269700
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Broad columella, Underdevel...	ORPHA:436245
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent scrotal raphe...	ORPHA:1555
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal migration, Ambiguous genitalia, Vent...	ORPHA:2772
Non-Specific Early-Onset Epileptic Encephalopathy	Failure to thrive, Optic atrophy, Retinal degeneration	ORPHA:442835
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas...	OMIM:614842
Huntington Disease-Like 1	Restlessness, Dysmetria, Weight loss, Depression, Gait ataxia, Bradykinesia, Gait disturbance, Ve...	ORPHA:157941
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Broad nasal...	ORPHA:1827
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, Broad-based gait, Wide nose, Prominent nasal bridge, Con...	ORPHA:251028
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:702
Cofs Syndrome	Microphthalmia	ORPHA:1466
Thanatophoric Dysplasia	Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Ventric...	ORPHA:2655
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Nasal congestion, Chronic r...	ORPHA:244
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Aplasia/Hypoplasia involving the nose, Cryptorchidism, Hydrocephalus, Opti...	ORPHA:3301
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia, Ventr...	ORPHA:500180
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ...	ORPHA:31826
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge,...	OMIM:123790
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Ataxia, Ventriculomegaly	OMIM:612951
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Campomelic Dysplasia	Depressed nasal bridge, Male pseudohermaphroditism, Abnormality of the sense of smell, Ambiguous ...	ORPHA:140
Multiple Sulfatase Deficiency	Anteverted nares, Ataxia, Hydrocephalus, Retinal degeneration, Increased CSF protein concentratio...	OMIM:272200
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Anteverted nares, Depressed nasal bridge, Optic atrophy, Cho...	OMIM:606812
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia, Hypogonadism, Delayed puberty	OMIM:615270
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Cryptorchidism, Anteverted nares, Depressed nasal ridge, Obesity	ORPHA:464288
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia, Ventriculomegaly	ORPHA:348
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Anteverted nares, Aggressive behavior, Wide nasal bridge, Attention deficit hypera...	OMIM:618342
Microcephaly 26, Primary, Autosomal Dominant	Ventriculomegaly, Prominent nasal bridge, Pachygyria, Dysplastic corpus callosum, Simplified gyra...	OMIM:619179
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop...	ORPHA:485421
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe...	ORPHA:309256
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa...	ORPHA:2119
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Decreased body weight, Pachygyria, Agenesis of corpus callos...	ORPHA:255138
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cryptorchid...	OMIM:101800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Retinal dystrophy, Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Partia...	OMIM:619512
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Timothy Syndrome	Prolonged QT interval, Depressed nasal bridge, Patent ductus arteriosus, Ventricular tachycardia,...	OMIM:601005
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Baraitser-Winter Syndrome 2	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Ventriculomegaly	OMIM:614583
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Hyper...	OMIM:615238
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300088
Pseudohypoparathyroidism, Type Ia	Depressed nasal bridge, Choroid plexus calcification, Obesity, Pseudohypoparathyroidism, Elevated...	OMIM:103580
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, Abnormali...	ORPHA:2356
Peho Syndrome	Anteverted nares, Hydrocephalus, Flexion contracture, Optic atrophy, Arthrogryposis multiplex con...	ORPHA:2836
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Depressed nasal bridge, Hydrocephalus, Attention deficit hyperactivity disorder,...	ORPHA:459061
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Pulmonic sten...	OMIM:179613
Alkuraya-Kucinskas Syndrome	Small scrotum, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Micropenis, Gray matter h...	OMIM:617822
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Tenorio Syndrome	Wide nose, Anteverted nares, Raynaud phenomenon, Hydrocephalus, Syncope, Gait disturbance, Emotio...	OMIM:616260
Snijders Blok-Campeau Syndrome	Broad-based gait, Inguinal hernia, Prominent nose, Unsteady gait, Wide nasal bridge, Attention de...	OMIM:618205
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Smith-Kingsmore Syndrome	Depressed nasal bridge, Large for gestational age, Cryptorchidism, Perisylvian polymicrogyria, Um...	OMIM:616638
Wagr Syndrome	Cryptorchidism, Obesity	ORPHA:893
Charge Syndrome	Bifid scrotum, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Compulsive behavio...	ORPHA:138
Serotonin Syndrome	Restlessness, Tachycardia, Irritability, Hypertension, Agitation, Hypotension, Abnormality of the...	ORPHA:43116
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Pyruvate Dehydrogenase Deficiency	Ataxia, Wide nasal bridge, Choreoathetosis, Multiple lipomas, Gait disturbance, Lethargy, Ventric...	ORPHA:765
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge, Frontalis muscle weakness	OMIM:210745
Ogden Syndrome	Maternal diabetes, Ventricular tachycardia, Supraventricular tachycardia, Abnormal repetitive man...	OMIM:300855
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Ventriculomegaly	ORPHA:939
Baralle-Macken Syndrome	Obesity	OMIM:619255
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor...	OMIM:614839
Galloway-Mowat Syndrome 5	Pachygyria, Ataxia, Ventriculomegaly	OMIM:617731
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Broad nasal tip, Recurrent upper respiratory tract infections, F...	ORPHA:284180
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Ataxia, Anorexia, Cachexia, Myocardial infarction, Myo...	ORPHA:3452
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Ataxia, Ventriculomegaly, Amelogenesis imperfecta	OMIM:226750
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right...	ORPHA:1329
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Partial agenesis of the corpus callosum, Obesity, Wide nasal bridge, Overgro...	OMIM:620250
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Depressed nasal bridge, Hypospadias, Large for gestational age, Cryptorchidism, Ga...	ORPHA:457485
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Athetosis, Ventriculomegaly, Dysphagia	OMIM:617493
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Difficulty walking, Abnormality of visual evoked pot...	ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly, Broad nasal tip	OMIM:615637
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Prominent nasal bridge, Aggressive behavior, Cryptorchidism, Patent ductus arteriosu...	OMIM:618659
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Failure to thrive, Optic nerve hypoplasia, Simplified gyral pattern, Ir...	OMIM:615574
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Ventriculomegaly	ORPHA:319199
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Dpm1-Cdg	Ataxia, Depressed nasal bridge, External genital hypoplasia, Optic atrophy, Knee flexion contract...	ORPHA:79322
Alstrom Syndrome	Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti...	OMIM:203800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Cryptorchidism, Obesity, Hy...	ORPHA:3409
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Anteverted nares, Obesity, Type II diabetes mellitus, Arrhythmia	ORPHA:3191
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Tics, Chorioretinal coloboma, Compulsive behaviors, Micropenis, Decreased body wei...	OMIM:619475
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture, Small for gestational age, Gait disturbance	OMIM:613330
Ogden Syndrome	Inguinal hernia, Underdeveloped nasal alae, Cryptorchidism, Cardiogenic shock, Short columella, S...	ORPHA:276432
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly	ORPHA:238769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:616538
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Porphyria Variegata	Tachycardia, Scarring, Hypertension, Abnormal autonomic nervous system physiology, Inappropriate ...	ORPHA:79473
Tularemia	Abnormal nasopharyngeal adenoid morphology, Tachycardia	ORPHA:3392
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Chromosome 18Q Deletion Syndrome	Broad-based gait, Inguinal hernia, Failure to thrive in infancy, Decreased response to growth hor...	OMIM:601808
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Cryptorchidism, Irritability, Truncal ataxia, Failure to thrive, Ventriculomegaly	ORPHA:88639
Congenital Disorder Of Glycosylation, Type If	Ataxia, Flexion contracture, Optic atrophy, Failure to thrive, Ventriculomegaly	OMIM:609180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Graft Versus Host Disease	Fasciitis, Dupuytren contracture, Lipodystrophy, Tachycardia, Irritability, Failure to thrive	ORPHA:39812
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Impaired social interactions	OMIM:617051
Momo Syndrome	Wide nasal bridge, Overgrowth, Obesity, Retinal coloboma	OMIM:157980
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Bulbous nose, Dilated cardiomyopathy, Po...	ORPHA:37553
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Retinal neovascularization	OMIM:619074
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Polymi...	ORPHA:1647
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Slender nose, Small for gestational age, Ataxia, Abnormal au...	OMIM:133540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cr...	ORPHA:2326
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys...	ORPHA:273
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Weiss-Kruszka Syndrome	Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Atypical Werner Syndrome	Fasting hyperinsulinemia, Retinal degeneration, Premature ovarian insufficiency, Abnormal circula...	ORPHA:79474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Autosomal Recessive Spastic Paraplegia Type 46	Broad-based gait, Ataxia, Abnormal sperm head morphology, Infertility, Difficulty walking, Trunca...	ORPHA:320391
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Bradykinesia, Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal...	OMIM:619725
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Aplasia of the nasal bone, Streak ovary, Hypospadias, Cryptorchidism, Dysplastic cor...	OMIM:618820
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Simplified gyral pattern, Increased CSF lactate, Sinus bradycardia, Congenit...	OMIM:618397
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Ataxia, Depressed nasal bridg...	OMIM:608091
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Flexion contracture of finger, Small...	ORPHA:464311
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Lateral ventricle dilatation, Dysphagia	OMIM:618367
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Prominent nose, Long nose, Cryptorchidism, Gait ataxia, Low frustra...	OMIM:300486
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Ataxia, Hypospadias, Narrow nasal ridge, Cryptorchidism, Inability to walk, Co...	OMIM:620083
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Dandy-Walker malformation, Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Congenital Myopathy 9A	Cryptorchidism, Obesity	OMIM:618822
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Partial agenesis of the corpus callosum, Hydrocephalu...	OMIM:602398
Warburg Micro Syndrome 2	Small scrotum, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Optic atrophy, Microp...	OMIM:614225
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Moebius Syndrome	Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell, Dysphagia, Arthro...	ORPHA:570
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Retinal dysplasia...	ORPHA:2556
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter	OMIM:188580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Flexion contracture, Webbed penis, Micropenis, Agenesis of corpus callosum, Abnorm...	ORPHA:261537
16P13.11 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Cryptorchidism, Abnormality of...	ORPHA:261236
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Cryptorchidism, Hydrocephalus, Bulbous nose, Patent ductus arteriosus, Wide nasa...	ORPHA:250989
Down Syndrome	Aganglionic megacolon, Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Obesit...	ORPHA:870
Roifman-Chitayat Syndrome	Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Umbilical hernia, Ventriculomegaly	OMIM:613328
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Mucopolysaccharidosis Type 3	Adenoiditis, Flexion contracture, Atrioventricular block, Loss of ambulation, Thick nasal alae, R...	ORPHA:581
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Weight los...	ORPHA:71273
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Depressed nasal bridge, Anteverted nares, Flexion contracture, Optic atrophy, El...	OMIM:617301
Marshall-Smith Syndrome	Bilateral cryptorchidism, Choanal stenosis, Pachygyria, Agenesis of corpus callosum, Anteverted n...	OMIM:602535
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Athetosis, Ventriculomegaly	OMIM:619922
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Diabetes insipidus, Inability to walk, Wide nasal bridge, Difficulty walking, Slender build, Vent...	OMIM:611087
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Ventriculomegaly	OMIM:612285
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Chorioretinitis, Overgrowth, Ventriculomegaly	ORPHA:199276
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hsd10 Disease, Infantile Type	Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:391428
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Opt...	ORPHA:585
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Hypospadias, Prominent nose, Cryptorch...	ORPHA:439822
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Hydrocephalus, Optic atrophy, Gait disturbance, Lethargy, Failure to thrive, Ventriculome...	ORPHA:395
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Depressed nasal bridge, Wide nasal bridge, Ventriculomegaly	ORPHA:261295
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp...	ORPHA:1295
Moyamoya Disease	Ventriculomegaly, Telangiectasia	ORPHA:2573
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Un...	OMIM:601455
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Hyposmia, Anosmia, Abnormal autonomic nervous system physiology	OMIM:243000
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Epididymi...	ORPHA:99827
Momo Syndrome	Large for gestational age, Obesity, Overgrowth, Chorioretinal coloboma, Wide nasal base, Tall sta...	ORPHA:2563
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy, Facial palsy	ORPHA:53
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct...	ORPHA:65759
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Anteverted nares, Prominent nasal bridge, Inability to walk, Perisylvian polymicrogyria, ...	OMIM:618443
Congenital Disorder Of Glycosylation, Type Iih	Depressed nasal bridge, Ataxia, Failure to thrive in infancy, Ventriculomegaly	OMIM:611182
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Optic atrophy, Ovarian neoplasm, Hyperten...	ORPHA:87
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Optic nerve hypoplasia, Hypospadias, Cryptorchidism, Abnormal left ven...	OMIM:301056
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Tall stature, Lipoatrophy, Pr...	OMIM:616914
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Micropenis, Ventriculomegaly, Dysphagia	OMIM:308350
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal colo...	OMIM:616546
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Monosomy 9Q22.3	Hyperactivity, Tall stature, Ovarian fibroma, Large for gestational age, Hydrocephalus, Umbilical...	ORPHA:77301
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Anteverted nares, Facial palsy, Inability to walk, Achilles tendon contracture, ...	OMIM:301041
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Underdeveloped nasal alae, Abnormality of the endocrine system, Cryptorchidism, ...	ORPHA:166035
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Lipodystrophy, Familial Partial, Type 6	Hypertension, Abdominal obesity, Diabetes mellitus, Lipodystrophy	OMIM:615980
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Failure to thrive, Ataxia, Ventriculomegaly	ORPHA:251009
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Scarring	ORPHA:398189
Spastic Paraplegia 51, Autosomal Recessive	Shyness, Overweight, Inability to walk, Long nose, Bulbous nose, Flexion contracture, Wide nasal ...	OMIM:613744
Hurler Syndrome	Aortic regurgitation, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Broad nasal tip,...	OMIM:607014
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Abnormal repetitive mannerisms, Ventriculomegaly, Shawl scrotum	ORPHA:85277
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive b...	ORPHA:85293
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Wide nasal bridge, Pachygyria, Ventriculomegaly	ORPHA:66629
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia, Delayed puberty	OMIM:274190
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization	ORPHA:404451
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae	OMIM:608624
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Ina...	ORPHA:98794
H Syndrome	Diabetes mellitus, Lipodystrophy, Recurrent pharyngitis, Hydrocephalus, Delayed puberty, Abnormal...	ORPHA:168569
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Tachycardia, Small f...	OMIM:609152
Degcags Syndrome	Tachycardia, Small for gestational age, Prominent nasal bridge, Anteverted nares, Oral-pharyngeal...	OMIM:619488
8Q21.11 Microdeletion Syndrome	Wide nose, Hypoplasia of penis, Camptodactyly of finger, Underdeveloped nasal alae, Cryptorchidis...	ORPHA:284160
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Optic disc hypoplasia, Hydrocephalus, Patent ductus arteriosus, H...	OMIM:300514
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Lacunar stroke, Pseudobulbar paralysis, Gait disturbance, Abnormality of visual evoked potentials...	OMIM:125310
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic ...	ORPHA:468678
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Metatropic Dysplasia	Hydrocephalus, Depressed nasal bridge, Camptodactyly of finger	ORPHA:2635
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Prominent nasal bridge, Inability to walk, Cryptorchidism, Flexion contracture, Wide nasal bridge...	OMIM:617452
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corp...	ORPHA:238750
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Micropenis, Internal hemorrhage	ORPHA:335
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Hydrocephalus, Aplasia ...	ORPHA:457284
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Multiple central nervous system lipomas, Lipo...	OMIM:613001
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Angina pectoris, Hydrocephalus...	ORPHA:93473
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Precocious puberty, Parti...	ORPHA:50
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Ataxia, Prominent nasal bridge, Limb joint contracture, Cryptorchidism, Inability to w...	ORPHA:505237
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicornuate uterus,...	OMIM:264480
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Large for gestational age	ORPHA:293964
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Pierpont Syndrome	Microphthalmia	OMIM:602342
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Cryptorchidism, Obesity, Heart murmur, Difficulty walking, Hyposmia, Micropenis,...	OMIM:618653
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Ataxia, Optic atrophy, Hypertension, Gait disturbance	ORPHA:1764
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Flexion contracture, Webbed penis, Micropenis, Agenesis of corpus callosum, Abnorm...	ORPHA:261552
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Abnormality of visua...	ORPHA:309263
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Pelvis-Shoulder Dysplasia	Waddling gait, Ambiguous genitalia, Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal...	ORPHA:2839
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Gm1-Gangliosidosis, Type Ii	Ataxia, Patent ductus arteriosus, Optic atrophy, Gait disturbance, Dysphagia, Failure to thrive, ...	OMIM:230600
Cerebrofacioarticular Syndrome	Ataxia, Hypospadias, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal b...	ORPHA:314679
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ventriculomegaly, Wide nose, Small for gestational age, Anteverted nares, Depresse...	OMIM:257300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Hypospadias, Adren...	OMIM:220210
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Hydrocephal...	OMIM:612651
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Distal Triplication 15Q	Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile...	ORPHA:314588
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg...	OMIM:609136
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Depressed nasal bridge, Inability to walk, Unsteady gait, Optic atrophy, Obesity...	OMIM:618493
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Cutis Laxa, Autosomal Recessive, Type Iib	Inguinal hernia, Narrow nasal ridge, Bulbous nose, Hydrocephalus, Failure to thrive, Agenesis of ...	OMIM:612940
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal nasal morphology, Truncal obesity, Hypospadias, Ventriculomegaly	ORPHA:3224
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Obesity, Tall stature	OMIM:618089
Hereditary Coproporphyria	Atypical scarring of skin, Tachycardia	ORPHA:79273
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Wide nasal bridge, Depressed nasal bridge, Simplified gyral pattern, Ventriculomegaly	OMIM:615760
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Subepend...	ORPHA:25
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Gitelman Syndrome	Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Increased circulating renin...	OMIM:263800
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Small scrotum, Anteverted nares, Depressed nasal bridge, Prominent ...	OMIM:618454
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Congestive heart failure, Hydr...	OMIM:309900
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia, Difficul...	ORPHA:309271
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Choanal atresia	OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Ventriculomegaly, Retinal atrophy, Enlarged flash visual evoked potentials, T...	OMIM:253280
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Aortic valve stenosis	OMIM:615599
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Jacobsen Syndrome	Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Hydrocephalus, Flexion con...	OMIM:147791
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Developmental And Epileptic Encephalopathy 64	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Inability to walk, Self-injurious beha...	OMIM:618004
Secondary Short Bowel Syndrome	Aganglionic megacolon, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to th...	ORPHA:95427
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Undetectable visual evoked potenti...	OMIM:259720
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ...	ORPHA:314585
Mucopolysaccharidosis Type 1	Inguinal hernia, Depressed nasal bridge, Abnormal nasal morphology, Congestive heart failure, Hyd...	ORPHA:579
6Q Terminal Deletion Syndrome	Failure to thrive, Hypospadias, Periventricular heterotopia, Phimosis, Obesity, Abnormality of ne...	ORPHA:75857
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Agenesis of...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Agenesis of...	ORPHA:363958
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Hydrocephalus, Optic atrophy, Chronic rhinitis due to narrow nasal air...	OMIM:259710
Hennekam-Beemer Syndrome	Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Long nose, Optic atrophy, Wide na...	ORPHA:2135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Fibular Hemimelia	Anophthalmia, Abnormal heart morphology	ORPHA:93323
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Lead Poisoning	Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,...	ORPHA:330015
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Extra-axial c...	OMIM:616900
8P23.1 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Cryptorchidism, Patent duct...	ORPHA:251071
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Disproportionate tall stature, Ventriculomegaly	ORPHA:2172
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
B4Galt1-Cdg	Small for gestational age, Hydrocephalus, Wide nasal bridge, Hypothyroidism, Dandy-Walker malform...	ORPHA:79332
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology, Ventric...	ORPHA:466934
Medulloblastoma	Ataxia, Hydrocephalus, Cerebellar hemorrhage, Dysmetria, Irritability, Progressive cerebellar ata...	ORPHA:616
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Decreased body weight, Facial palsy, Increased connective tissue, Inability to walk, Flexion cont...	ORPHA:258
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys, Congenital diaphragmatic hernia, Abnormality of the sense of...	ORPHA:958
Dural Sinus Malformation	Papilledema, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cer...	ORPHA:97339
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Underdeveloped nasal alae, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Broad columell...	OMIM:250410
Sotos Syndrome	Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Broad nasal tip,...	OMIM:117550
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Abnormal cortical gyration, Optic atrophy, Congenital hypothyroidism, Contractures of the large j...	OMIM:617527
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Left-to-right shunt, Hypospadias, Endometriosis, Long nose, Dysp...	ORPHA:363444
Rahman Syndrome	Cryptorchidism, Ventriculomegaly, Camptodactyly	OMIM:617537
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia, Ventriculomegaly	OMIM:616299
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration	OMIM:239000
Triploidy	Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holopr...	ORPHA:3376
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Holoprosencephaly 9	Depressed nasal bridge, Abnormal cortical gyration, Optic nerve hypoplasia, Decreased response to...	OMIM:610829
Pseudo-Torch Syndrome 1	Anteverted nares, Pachygyria, Patent ductus arteriosus, Lissencephaly, Umbilical hernia, Failure ...	OMIM:251290
Alg12-Cdg	Retinal detachment, Wide nose, Decreased serum insulin-like growth factor 1, Hypospadias, Promine...	ORPHA:79324
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Hypospadias, Increased CSF lactate, Bradycardia, Pulmonary arterial hypertension...	OMIM:619272
Intellectual Developmental Disorder, Autosomal Dominant 21	Cryptorchidism, Patent ductus arteriosus, Ventriculomegaly	OMIM:615502
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Monosomy 13Q34	Metrorrhagia, Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent nose, Obesity, Hemato...	ORPHA:96168
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Depression	OMIM:184850
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Heart block, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epitheli...	ORPHA:228308
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Takenouchi-Kosaki Syndrome	Inguinal hernia, Ataxia, Hypospadias, Cryptorchidism, Bulbous nose, Flared nostrils, Optic atroph...	OMIM:616737
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Leukodystrophy, Hypomyelinating, 12	Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly	OMIM:616683
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Hypertension, Lethargy, Failure to thrive, Ventriculomegaly	ORPHA:2169
Femoral-Facial Syndrome	Inguinal hernia, Maternal diabetes, Cryptorchidism, Long penis, Short nose, Ventriculomegaly	ORPHA:1988
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Wide nasal bridge, Increas...	OMIM:270450
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Short nose, Failure to thrive, Agenesis of corpus callosum, Ve...	OMIM:613735
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Bulbous nose, Patent ductus arteriosus, Optic atrophy, Wide nasal bridge, Dandy...	OMIM:220500
Bilateral Polymicrogyria	4-layered lissencephaly, Perisylvian polymicrogyria, Cerebellar ataxia associated with quadrupeda...	ORPHA:268940
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Ataxia, Inability to walk, Optic atrophy, Retractile testis, Arthrogryposis multiplex congenita, ...	OMIM:617193
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hypoparathyroidism, Hyperthy...	ORPHA:567
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Camptodactyly of finger, Underdevelop...	ORPHA:2083
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Heart murmur, Pulmonic stenosis, Failure...	ORPHA:3426
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Ataxia, Optic atrophy, Adrenocorti...	OMIM:231550
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance	ORPHA:93952
Lowry-Maclean Syndrome	Inguinal hernia, Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Bilateral cryptor...	ORPHA:2409
Holoprosencephaly 14	Ventriculomegaly, Anteverted nares, Proboscis, Periventricular heterotopia, Aqueductal stenosis, ...	OMIM:619895
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Right bundle branch block, Short...	OMIM:618590
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Hydrocephalus, Flexion contracture...	OMIM:619321
Phelan-Mcdermid Syndrome	Ventriculomegaly, Broad-based gait, Aggressive behavior, Bulbous nose, Tongue thrusting, Unsteady...	OMIM:606232
Osteopetrosis, Autosomal Recessive 1	Facial palsy, Hydrocephalus, Optic atrophy, Facial paralysis, Failure to thrive	OMIM:259700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Agitation, Abnormal autonomic nervous system physiology, Gait disturbance, Bruxism, Recurrent han...	OMIM:617903
Diabetic Embryopathy	Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter...	ORPHA:1926
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism,...	OMIM:610651
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Promi...	ORPHA:193
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ...	ORPHA:157
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Truncal obesity, Hyper...	OMIM:219080
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Polymicrogyria, Retinal dystrophy, Agyria, Ventriculomegaly	ORPHA:370997
Houge-Janssens Syndrome 3	Inguinal hernia, Broad nasal tip, Self-injurious behavior, Attention deficit hyperactivity disord...	OMIM:618354
Achondroplasia	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Obesity, Short nasal bridge	ORPHA:15
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Wide nose, Anteverted nares, Depressed nasal bridge, Optic a...	ORPHA:192
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Trisomy 17P	Wide nose, Hypoplasia of penis, Prominent nose, Hydrocephalus, Flexion contracture, Patent ductus...	ORPHA:261290
Skraban-Deardorff Syndrome	Broad-based gait, Depressed nasal bridge, Anteverted nares, Spastic gait, Ventriculomegaly	OMIM:617616
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia, Lethargy	OMIM:229700
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Tetrasomy 5P	Pericallosal lipoma, Anteverted nares, Congestive heart failure, Hydrocephalus, Wide nasal bridge...	ORPHA:3309
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Bulbous nose, Obesity, Wide nasal b...	ORPHA:466950
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal repetitive mannerisms, Oppositional defiant disorder, Retin...	ORPHA:580
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Optic atrophy, Short nose, Failure to thrive, Ventriculomegaly	ORPHA:561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Hydrocephalus, Congenital contracture, Pachygyria, Agenesis...	OMIM:613150
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
Opitz-Kaveggia Syndrome	Inguinal hernia, Multiple joint contractures, Hypospadias, Choanal atresia, Prominent nose, Crypt...	OMIM:305450
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Obesity, Broad nasal tip	OMIM:619680
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Congestive heart failure, Dilated cardiomyop...	OMIM:300257
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Colpocephaly, Mi...	OMIM:617260
Ruvalcaba Syndrome	Inguinal hernia, Cryptorchidism, Delayed puberty, Abnormality of visual evoked potentials, Short ...	ORPHA:3121
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, P...	OMIM:618870
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Ataxia, Abnormal cerebrospinal fluid morphology, Optic atrophy, Depression, Dilated third ventricle	ORPHA:314404
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray...	ORPHA:1855
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Plaa-Associated Neurodevelopmental Disorder	Abnormal cortical gyration, Optic atrophy, Contractures of the large joints, Impaired oropharynge...	ORPHA:521426
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Muscular Dystrophy, Congenital, With Or Without Seizures	Ataxia, Dysphagia, Type I diabetes mellitus, Loss of ambulation, Ventriculomegaly	OMIM:620166
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Ataxia, Facial palsy, Hyperthyroidism, Diabetes mellitus, Dilated cardiomyop...	ORPHA:254892
Coccidioidomycosis	Pericarditis, Abnormal retinal morphology, Abnormality of the endocrine system, CSF pleocytosis, ...	ORPHA:228123
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Abnormal autonomic nervous...	ORPHA:94093
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Wide nasal bridge, Failure to thrive, Polymicrogyria, Ventriculomegaly	OMIM:618580
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Decreased serum insulin-like growth factor 1, Sudden cardiac death, Dilated cardiomy...	OMIM:614921
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Axial Spondylometaphyseal Dysplasia	Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy	ORPHA:168549
Tay-Sachs Disease	Precocious puberty, Inability to walk, Optic atrophy, Abnormal thalamic MRI signal intensity, Dys...	ORPHA:845
Joubert Syndrome 31	Ventriculomegaly, Truncal ataxia	OMIM:617761
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Umbilical hernia	OMIM:601499
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, P...	OMIM:617053
Basilicata-Akhtar Syndrome	Anteverted nares, Wide nasal ridge, Precocious puberty, Choanal stenosis, Camptodactyly, Ventricu...	OMIM:301032
Genitopalatocardiac Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Male pseudohermaphro...	ORPHA:2075
Scorpion Envenomation	Restlessness, Bundle branch block, Tachycardia, Ataxia, Cardiac conduction abnormality, Congestiv...	ORPHA:466677
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Bulbous nose, Dilated cardiomyopathy, Elbow flexion contractu...	OMIM:608836
Desbuquois Dysplasia 1	Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity	OMIM:251450
Hydroxykynureninuria	Tachycardia, Abnormal repetitive mannerisms, Hypotension	ORPHA:79155
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Truncal obesity, Failure to thrive, Small for gestational age, Concave nasal ridge	ORPHA:73272
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Colpo...	OMIM:620113
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Part...	ORPHA:434179
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Ventric...	ORPHA:1860
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Holoprosencephaly, Micrope...	OMIM:270400
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Anteverted nares, Depressed nasal bridge, Inability to walk, O...	ORPHA:97297
2Q37 Microdeletion Syndrome	Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Underdeveloped nasal a...	ORPHA:1001
Kabuki Syndrome 1	Premature thelarche, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Conge...	OMIM:147920
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Mitral reg...	OMIM:301039
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Obesity, Heart murmur, Increased CSF lactate, Hypertrophic cardiomyo...	OMIM:615418
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Wide nasal bridge, Hydrocele t...	OMIM:613603
Chromosome 22Q13 Duplication Syndrome	Anteverted nares, Impulsivity, Narrow nasal ridge, Attention deficit hyperactivity disorder, Emot...	OMIM:615538
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Prominent nose, Underdeveloped nasal alae, Precocious puberty, Patent ductus arteriosus, Wide nas...	ORPHA:2637
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block...	ORPHA:398124
Orofaciodigital Syndrome Xvii	Micropenis, Prominent nose, Ventriculomegaly, Decreased body weight	OMIM:617926
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Decreased circulating T4 con...	ORPHA:90674
Crouzon Syndrome	Hydrocephalus, Deviated nasal septum, Optic atrophy, Dysgerminoma	OMIM:123500
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Hyperactivity, Multiple joint contractures, Small for ge...	ORPHA:464306
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Irritability, Cardiomyopathy, Hypotension, Lethargy, Arrhythmia	ORPHA:159
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Hypospadias, Cryptorchidism,...	ORPHA:353281
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, ...	ORPHA:2250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Small for gestational age, Limb joint contracture, De...	ORPHA:404454
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Ataxia, Precocious puberty, Cryptorchidism, Hydrocephalus, A...	ORPHA:636
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Depressed nasal bridge, Cardiac arrest, Increased CSF lactate, Lethargy, Hypertrophic cardiomyopa...	OMIM:604377
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Inguinal hernia, Tricuspid regurgitation, Anteverted nares, Anterior pituit...	OMIM:619534
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Overgrow...	ORPHA:261652
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominent nose, Hydrocephalus, Patent ductus arteriosus, Wide nasal bridge, Decreased body weight...	OMIM:614886
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypertension, Abdominal obesity, Ol...	OMIM:219090
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Bacterial Toxic-Shock Syndrome	Shock, Fasciitis, Tachycardia, Myocarditis, Capillary leak, Hypotension, Cellulitis	ORPHA:36234
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
Mend Syndrome	Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ...	ORPHA:401973
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Chorioretinal hypopigmentation, Pheochromocytoma, Subependymal nodule...	ORPHA:805
Musk, Inability To Smell	Anosmia	OMIM:254150
Trichothiodystrophy	Ventriculomegaly, Multiple joint contractures, Cryptorchidism, Partial agenesis of the corpus cal...	ORPHA:33364
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Prominent nasal tip, Nail-biting, Broad-based gait, Small scrotum, Optic nerve hypoplasia, Aggres...	OMIM:620330
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ...	ORPHA:125
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia, Ventriculomegaly	OMIM:618381
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Short nose, Cachexia	ORPHA:1389
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Anteverted nares, Bulbous nose, Attention deficit hyperactivity disorder,...	OMIM:619188
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Self-injurious behavior, Broad-based gait, Ventriculomegaly	OMIM:618707
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ...	OMIM:214800
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Stromme Syndrome	Optic nerve hypoplasia, Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Short columella...	OMIM:243605
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Optic atroph...	ORPHA:79282
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Monosomy 18P	Microphthalmia, Lymphedema	ORPHA:1598
Shox-Related Short Stature	Obesity	ORPHA:314795
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Abnormal cortical gyration, Irritability, Athetosis, Hypogonadism, Umbilical her...	ORPHA:79351
Mercury Poisoning	Hypotension, Hypertension, Tachycardia, Anorexia	ORPHA:330021
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Chorioretinal coloboma, Short nose, Ven...	ORPHA:2031
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Oligohydramnios	ORPHA:228390
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Seckel Syndrome 9	Clitoral hypertrophy, Small for gestational age, Congenital diaphragmatic hernia, Simplified gyra...	OMIM:616777
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Hernia of the abdomi...	ORPHA:2184
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Patent ductus...	ORPHA:1571
Kleefstra Syndrome 1	Anteverted nares, Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors...	OMIM:610253
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Hydrocephalus, Optic atrophy, Retinopathy	ORPHA:220295
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Orthostatic hypotension, Tachycardia, Hypertension	OMIM:223900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Small for gestational age, Hypospadias, Flexion contracture, Wide nasal bridge,...	OMIM:616897
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Flexion contr...	OMIM:619720
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Edema	ORPHA:2505
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Bifid nose, Chorioretinal coloboma, Agenesis of c...	ORPHA:268249
Cholera	Tachycardia, Irritability, Hypovolemic shock, Hypotension, Lethargy	ORPHA:173
Leopard Syndrome 1	Bundle branch block, Hypospadias, Cryptorchidism, Depressed nasal ridge, Micropenis, Hypertrophic...	OMIM:151100
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Anteverted nares, External genital hypoplasia, Diabetes mellitus, Cryptorchidism, ...	OMIM:614231
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly ...	ORPHA:127
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Microphthalmia, Truncus arteriosus, Anophthalmia	ORPHA:2538
Martsolf Syndrome 1	Enlarged sylvian cistern, Inguinal hernia, Hypogonadotropic hypogonadism, Depressed nasal bridge,...	OMIM:212720
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Inguinal hernia, Cryptorchidism, Disproportionate tall stature, Prominent nas...	ORPHA:2953
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus...	ORPHA:3412
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l...	ORPHA:2298
Galloway-Mowat Syndrome 1	Dandy-Walker malformation, Small for gestational age, Ataxia, Narrow nasal ridge, Prominent nose,...	OMIM:251300
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Intracran...	OMIM:613406
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R...	ORPHA:542306
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Patent ductus arteriosus...	OMIM:301043
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Abnormal lateral ventricle m...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Abnormal lateral ventricle m...	ORPHA:353277
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Prominent nasal bridge, Camptodactyly of finger, Cryptorchidism, Hydrocep...	OMIM:619951
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Ataxia, Hypospadias, Choreoathetosis, Concave nasal ridge, Arrhythmia,...	OMIM:615471
Holoprosencephaly 7	Omphalocele, Flat nasal alae, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, ...	OMIM:610828
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Aqueductal stenosis, Cryptorch...	OMIM:620305
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Depression,...	OMIM:615830
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide penis, Agenesi...	ORPHA:3455
Tetrasomy 9P	Hyperactivity, Pericarditis, Abnormal chorioretinal morphology, Convex nasal ridge, Abnormal dent...	ORPHA:3310
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Wide nasal ...	OMIM:620351
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral cryptorchidism, Optic atrophy, Scissor gait, Telangiectasia, Choreoathetosis, G...	OMIM:278800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Increased nuchal translucency, Oligohydramnios	OMIM:618494
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydroceph...	ORPHA:1340
Chops Syndrome	Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Obesity, Short nose	OMIM:616368
Werner Syndrome	Convex nasal ridge, Retinal degeneration	OMIM:277700
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Obesity, Progressive gait ataxia, Paroxysmal bursts of l...	OMIM:105830
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight	ORPHA:90051
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Optic atrophy	OMIM:616875
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Anorexia, Abnormal dental enamel morpho...	ORPHA:79430
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Anteverted nares, Congenital diaphragmatic hernia, Hypospadia...	ORPHA:2059
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi...	ORPHA:2322
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Sinus tachycardia, Decreased serum leptin, Flexion contracture, Right bundle branch ...	OMIM:614008
Koolen-De Vries Syndrome	Hypospadias, Prominent nasal bridge, Abnormal dental enamel morphology, Underdeveloped nasal alae...	ORPHA:96169
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hol...	ORPHA:1908
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Facial palsy, Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Flexion ...	OMIM:254940
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Optic atrophy, Dystonic gait	ORPHA:480898
Lateral Meningocele Syndrome	Inguinal hernia, Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus, Keloids, U...	OMIM:130720
African Trypanosomiasis	Choreoathetosis, Papilledema, Abnormal EKG, Abnormality of the endocrine system, Abnormality of r...	ORPHA:3385
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Sandestig-Stefanova Syndrome	Small for gestational age, Wide nasal bridge, Camptodactyly, Convex nasal ridge, Ventriculomegaly	OMIM:618804
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Anteverted nares, Optic nerve hypoplasia, Proboscis, Prominent n...	OMIM:605627
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1946
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Bulbous nose, Obesity, Wide nasal b...	ORPHA:466943
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Athetosis, Short nose	OMIM:239300
Cardiofaciocutaneous Syndrome 1	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Optic nerve dysplasia, Tongue thrusting,...	OMIM:115150
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Mend Syndrome	Hyperactivity, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Macular hypop...	OMIM:300960
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Cryptorchidism, Obesity	OMIM:194072
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Chromosome 17P13.1 Deletion Syndrome	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Spina bifida, Bulbous nose, Hyd...	OMIM:613776
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec...	ORPHA:813
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ascites	OMIM:602361
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Increased CSF alanine concentration, Anorexia, Increased CSF citrullin...	ORPHA:3008
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hy...	ORPHA:264200
Mogs-Cdg	Absent brainstem auditory responses, Wide nose, External genital hypoplasia, Optic atrophy, Hydro...	ORPHA:79330
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Broad nasal tip, Aggressive behavior, Underdeveloped nasal alae, Self-injurious behavior, Abnorma...	ORPHA:404473
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus, Failure to thrive, Lethargy	OMIM:277400
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Tetrasomy 15Q26	Patent ductus arteriosus, Hydrocephalus, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Ulnar-Mammary Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Decreased fertility, Obesity, Abnor...	ORPHA:3138
Distal 22Q11.2 Microduplication Syndrome	Wide nose, Tricuspid regurgitation, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Optic...	ORPHA:261337
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Femoral hernia, Facial palsy, Choanal atresia, Abnorm...	ORPHA:2658
Neu-Laxova Syndrome	Ventriculomegaly, Abnormal cortical gyration, Spina bifida, External genital hypoplasia, Pachygyr...	ORPHA:2671
Beck-Fahrner Syndrome	Depression, Extra-axial cerebrospinal fluid accumulation, Attention deficit hyperactivity disorde...	OMIM:618798
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Dandy-Walker malformation	OMIM:147800
Acute Intermittent Porphyria	Restlessness, Tachycardia, Depression, Hypertension, Pseudobulbar paralysis	ORPHA:79276
Bardet-Biedl Syndrome 20	Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Rod-cone dystrophy	OMIM:619471
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valv...	OMIM:300166
Wilson Disease	Hypoparathyroidism, Decreased nerve conduction velocity, Dysphagia, Hyposmia, Chondrocalcinosis	OMIM:277900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat...	OMIM:241410
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu...	OMIM:264800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Spontaneous, recurrent epistaxis, Cachexia, Hydrocephalus, Limb at...	ORPHA:2072
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Situs inversus totalis	ORPHA:564
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Flexion contracture, Hypoplastic labia ma...	OMIM:207410
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Clitoral hypertrophy, Anteverted nares, Hypospadias, Pulmonary arterial hyperten...	OMIM:616449
Mannosidosis, Alpha B, Lysosomal	Depressed nasal ridge, Retinal degeneration	OMIM:248500
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Corneal scarring	OMIM:616488
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Ataxia, Myelopathy, Increased CSF lactate, Irritability, Cervical myelopathy, Ventr...	OMIM:617186
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Wide nasal bridge	ORPHA:1865
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,...	OMIM:600955
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge, Ambiguous genitalia	ORPHA:1237
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Depressed nasal ridge, Short nose	OMIM:300863
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Short n...	OMIM:616430
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm...	ORPHA:247768
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Broad nasal tip, Crypt...	OMIM:612530
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Myocardial infarction, Pancr...	ORPHA:99889
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Fanconi Anemia	Aganglionic megacolon, Choanal atresia, Spina bifida, Hypospadias, Abnormal preputium morphology,...	ORPHA:84
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism,...	ORPHA:2166
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Pheochromocytoma, Adrenocortica...	ORPHA:139411
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Depression	OMIM:176000
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve...	ORPHA:909
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Occipital encephalocele, Ataxia, Depressed nasal bridge, B...	OMIM:267750
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn...	ORPHA:1359
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Ano...	OMIM:603457
Encephalocraniocutaneous Lipomatosis	Lipodystrophy, Multiple lipomas, Retinopathy, Pulmonary arterial hypertension, Aortic valve steno...	ORPHA:2396
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Paroxysmal supraventricular tachycardia, Pulmonic stenosis, Arrhythmia, Short n...	OMIM:617877
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Abnormality of the sense of smell, Atyp...	ORPHA:198
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Anteve...	ORPHA:96149
Koolen-De Vries Syndrome	Hyperactivity, Small for gestational age, Prominent nasal bridge, Impulsivity, Cryptorchidism, Bu...	OMIM:610443
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Simplified gyral patt...	OMIM:615803
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox...	ORPHA:79102
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Inguinal hernia, Hyperparathyroidism, Depressed nasal bridge, Anteve...	OMIM:618188
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Joint contracture, Inguinal hernia	OMIM:614457
Gaucher Disease	Ventriculomegaly, Ataxia, Hydrocephalus, Depression, Pulmonary arterial hypertension, Arthrogrypo...	ORPHA:355
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Prominent nose	ORPHA:319675
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ocular albinism, Ataxia	ORPHA:2720
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Hydrocephalus, Abnormal morphology of female internal genitalia, Congenital diaphrag...	ORPHA:1834
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Intellectual Disability-Alacrima-Achalasia Syndrome	Aggressive behavior, Delayed early-childhood social milestone development, Abnormality of the adr...	ORPHA:289483
Genitopatellar Syndrome	Hip contracture, Wide nose, Small scrotum, Prominent nasal bridge, Enlarged labia minora, Periven...	OMIM:606170
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Depressed nasal bridge, Lattice retinal de...	ORPHA:485
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Lhermitte-Duclos Disease	Ataxia, Hydrocephalus, Ovarian neoplasm, Polymicrogyria, Neoplasm of the thyroid gland	ORPHA:65285
Waardenburg Syndrome, Type 2E	Anosmia, Ocular albinism, Hypopigmentation of the fundus	OMIM:611584
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Facial palsy, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida o...	OMIM:300373
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Hyposmia	OMIM:607060
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Opitz Gbbb Syndrome	Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Anteverted nares, Hypospadias, Con...	ORPHA:2745
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism...	ORPHA:91
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Spina bifida, Hydrocephalus, Myelomeningocele, Aplasia of th...	ORPHA:2437
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Broad-based gait, Abnormality of the pineal gland, Aggressive beh...	ORPHA:369950
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventriculomegaly	OMIM:219730
Laurin-Sandrow Syndrome	Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose...	ORPHA:2378
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Ciliary Dyskinesia, Primary, 45	Male infertility, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Orchitis, Hypovolemia, Capillary...	ORPHA:99826
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Prominent nasal bridge, Precocious puberty, Obesity, Type I diabetes mellitus, Retinopathy, Denti...	OMIM:619269
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Tip-toe gait, Gait disturbance, Abnormality of visua...	ORPHA:512
Trisomy 8P	Multiple joint contractures, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocepha...	ORPHA:264450
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus,...	ORPHA:1120
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension, Weight loss	ORPHA:98849
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Choanal atresia, Cryptorchidism, Dys...	OMIM:151050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Congestive heart failure, Hydrocephalus, Irregular menstruation, Uterine ...	OMIM:616482
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Anteverted nares, Anterior pituitary hypoplas...	OMIM:619841
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Macular atrophy, Depressed nasal bridge, Wide nasal bridge, Primary...	OMIM:619418
Orofaciodigital Syndrome I	Abnormal cortical gyration, Underdeveloped nasal alae, Hydrocephalus, Myelomeningocele, Wide nasa...	OMIM:311200
Toriello-Carey Syndrome	Ventriculomegaly, Aganglionic megacolon, Cryptorchidism, Partial agenesis of the corpus callosum,...	ORPHA:3338
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid...	OMIM:615926
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Caribbean Parkinsonism	Orthostatic hypotension, Bradykinesia, Progressive gait ataxia, Abnormal autonomic nervous system...	ORPHA:97355
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Depressed nasal ridge, Short nose	ORPHA:163966
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Telangiectasia of ...	OMIM:616007
Aymé-Gripp Syndrome	Inguinal hernia, Pericarditis, Depressed nasal bridge, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:1272
Meckel Syndrome, Type 4	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Obesity, Hypogonadism, Rod-cone dystrophy, Vaginal atresia	OMIM:615989
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e...	OMIM:261740
Adiposis Dolorosa	Hypothyroidism, Telangiectasia of the skin, Obesity, Depression	ORPHA:36397
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Gait imbalance, Ambiguou...	OMIM:617159
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morpholog...	ORPHA:2323
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Meckel Syndrome, Type 1	Dilated fourth ventricle, Omphalocele, Ventriculomegaly, Occipital encephalocele, Camptodactyly o...	OMIM:249000
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Narcolepsy 7	Obesity	OMIM:614250
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
3Q29 Microduplication Syndrome	Wide nasal bridge, Obesity	ORPHA:251038
Heart And Brain Malformation Syndrome	Microphthalmia, Polyhydramnios	OMIM:616920
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Allergic rhinitis, Elbow contracture, Hydrocephalus...	OMIM:618162
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Anteverted nares, Cryptorchidism, Hydrocephalus, Minimal subcutaneous fat, Campt...	OMIM:182212
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Tricuspid regurgitation, Depressed nasal bridge, Hydrocephalus, Flexion contract...	OMIM:253200
Hydranencephaly	Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Thalamic edema, Chorioretinal atrophy...	ORPHA:2177
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Failure to thrive, Nonprogressive cerebellar ataxia, Ventriculomegaly	ORPHA:431361
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Anteverted nares, Depressed nasal bridge, Long nose, Cryptorchidism, Bulbous nose, Inability to w...	OMIM:620224
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Aortic regurgitation, Ataxia, Depressed nasal bri...	ORPHA:309282
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis	OMIM:619718
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis	OMIM:612444
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Optic atrophy, Supravalvar pulmonary stenosis, Umbilical hernia, Aortic...	OMIM:618164
Cardiac Diverticulum	Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart...	ORPHA:1686
Lissencephaly Due To Lis1 Mutation	Ventriculomegaly, Anterior predominant thick cortex pachygyria, Pachygyria, Posterior predominant...	ORPHA:95232
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Bulbous nose, Optic disc coloboma, Abno...	ORPHA:251014
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula...	ORPHA:529962
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ...	OMIM:619426
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Depressed nasal ridge, Ataxia	ORPHA:1861
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose	OMIM:101600
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Hydrocephalus, Patent ...	OMIM:227646
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Choanal stenosis, Agenesi...	OMIM:101200
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Cryptorc...	ORPHA:2462
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Atypical scarring of skin, Atrophic scars, Pulmoni...	OMIM:618343
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Congenital diaphragmatic hernia, Bulbous nose, Rec...	ORPHA:1780
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Wide nose, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, ...	OMIM:616078
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Cardiomyopathy, Rod-cone dystrophy, Ataxia	OMIM:616084
Waardenburg Syndrome, Type 4C	Hypogonadism, Cryptorchidism, Anosmia, Aganglionic megacolon	OMIM:613266
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Chronic rhinitis, Abnormality of visual evoked potentials, Pulmonary arterial hype...	ORPHA:667
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Cog8-Cdg	Failure to thrive, Ataxia, Ventriculomegaly	ORPHA:95428
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis, Nasal congestion	OMIM:300991
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Small for gestational age, Pachygyria, Cryptorchidism, Patent ductus arte...	OMIM:620024
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Agenesis of corpus callosum, Dandy-Walker malforma...	OMIM:264090
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Pulmonary arteria...	ORPHA:974
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt...	OMIM:115310
Eisenmenger Syndrome	Tricuspid regurgitation, Left-to-right shunt, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Galloway-Mowat Syndrome 3	Hiatus hernia, Pachygyria, Simplified gyral pattern, Hypertension, Lissencephaly, Camptodactyly, ...	OMIM:617729
Gaucher Disease, Perinatal Lethal	Anteverted nares, Depressed nasal bridge, Akinesia, Dysphagia, Arthrogryposis multiplex congenita...	OMIM:608013
Autoimmune Hypoparathyroidism	Prolonged QT interval, Autoimmune hypoparathyroidism, Depression, Abnormal left ventricular funct...	ORPHA:36913
Carey-Fineman-Ziter Syndrome	Ventriculomegaly, Anteverted nares, Facial palsy, Glandular hypospadias, Short nose, Hypertensive...	ORPHA:1358
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Dysmetria, Compulsive behaviors, Spina bifida occulta...	ORPHA:904
Rubinstein-Taybi Syndrome 1	Premature thelarche, Prominent nose, Bilateral cryptorchidism, Flexion contracture, Papillary cys...	OMIM:180849
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Depressed nasal bridge, Anteverted nares, Ataxia, Optic nerve hypoplasia, Broad nasal tip, Wide n...	ORPHA:221139
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Prominent nasal bridge, Large for gestational age, Gait ataxia, Disp...	ORPHA:457359
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Narrow nasal ridge, Raynaud phenomenon, Absence o...	ORPHA:740
Cockayne Syndrome	Optic disc pallor, Abnormality of retinal pigmentation, Retinal atrophy, Retinal dystrophy, Cache...	ORPHA:191
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
1P21.3 Microdeletion Syndrome	Short nose, Obesity, Broad nasal tip	ORPHA:293948
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrophy, Concen...	OMIM:610505
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Rodrigues Blindness	Microphthalmia	OMIM:268320
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Limb joint contracture, Flexion contracture, Truncal obesity, Truncal ataxia, Ventriculom...	OMIM:301072
Cole-Carpenter Syndrome 2	Hydrocephalus, Dentinogenesis imperfecta	OMIM:616294
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Small for gestational age, Depressed nasal bridge, Hypospadias, Broad nasal tip, C...	OMIM:309590
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatiti...	ORPHA:1546
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Broad nasal tip, Bilateral camptodactyly, Elbow flexion contracture, Gait...	OMIM:619777
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Anteverted nares, Narrow nasal tip, Hypospadias, Cryptorchidism, Wide nasal bridge, Colpocephaly,...	ORPHA:477993
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Gapo Syndrome	Anteverted nares, Facial palsy, Depressed nasal bridge, Retinal arteriolar tortuosity, Optic atro...	OMIM:230740
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Narrow nose, Retinal hemorrhage, Abnormali...	ORPHA:90324
Moebius Syndrome	Microphthalmia	OMIM:157900
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal cardiac ventricular function, Hyperthyroidism, Scarrin...	ORPHA:797
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge, Umbilical hernia	OMIM:104350
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Ventriculomegaly, Compulsi...	ORPHA:401986
Iniencephaly	Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Hydrocephalus, Myelome...	ORPHA:63259
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Atrophic sc...	ORPHA:536467
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Otopalatodigital Syndrome Type 2	Omphalocele, Encephalocele, Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Hydroce...	ORPHA:90652
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:224400
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Clitoral hypertrophy, Depressed nasal bridge, Anteverted nares, Hypoplastic la...	OMIM:244450
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Microcephaly 30, Primary, Autosomal Recessive	Inguinal hernia, Choanal stenosis, Ventriculomegaly	OMIM:620183
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta	OMIM:112240
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Hypospadias, Abnormality of the endocrine system, Bulbous nose, Flared nostrils,...	ORPHA:487796
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Depressed nasal bridge, Abnormal cortical gyration, Choanal atresia, Prominent nose, Abnormality ...	OMIM:300968
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Retinal hamartoma, Hydrocephalus, Optic atrophy, Abnormal morphology...	ORPHA:538
Pitt-Hopkins Syndrome	Cryptorchidism, Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Micrope...	OMIM:610954
Peters Plus Syndrome	Inguinal hernia, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Hydroceph...	ORPHA:709
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Wide nasal bridge, Micropenis, Ventric...	OMIM:235255
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Tall stature, Anteverted nares, Choanal atresia, Hypospadias, Cryptorchidism, Bulbous nose, Paten...	OMIM:616975
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic atrophy, Camptodactyly of 2nd-5th fi...	ORPHA:1106
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Focal Dermal Hypoplasia	Narrow nasal bridge, Omphalocele, Inguinal hernia, Cleft ala nasi, Congenital diaphragmatic herni...	OMIM:305600
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo...	OMIM:217090
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Spina bifida, Cryptorchidism, Bulbous nose, Patent ...	ORPHA:99776
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Ventriculomegaly, Self-biting	OMIM:618314
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Recurrent upper respiratory tract infections, Flexion contracture, Cardiomyopathy,...	OMIM:253220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Facial palsy, Spina bifida, Wide nasal...	ORPHA:508498
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Short nose, Ventriculomegaly	OMIM:614749
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Decreased CSF copper concentration, Glandular hypospadias, Increased CSF...	OMIM:620306
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Camptodactyly of finger, Epispadias, Hydrocephalus, Atten...	ORPHA:2461
Hajdu-Cheney Syndrome	Wide nose, Inguinal hernia, Anteverted nares, Mitral stenosis, Hypospadias, Hydrocephalus, Patent...	ORPHA:955
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Prominent nasal bridge, Congenital diaphragmatic hernia, Aqueductal stenos...	OMIM:154400
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Retinal degeneration	ORPHA:96179
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Anteverted nares, Foot joint contracture, Cryptorchidism, Wide nasal bridge, Abn...	ORPHA:444072
Hajdu-Cheney Syndrome	Wide nose, Inguinal hernia, Anteverted nares, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ...	OMIM:102500
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose	ORPHA:93259
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Arachnoiditis	Hydrocephalus	ORPHA:137817
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Raynaud phenomenon, Chronic CSF lymp...	ORPHA:51
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Delayed early-childhood social milestone development, Hashimoto thyroiditi...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Delayed early-childhood social milestone development, Hashimoto thyroiditi...	ORPHA:99228
Monosomy X	Myocardial infarction, Delayed early-childhood social milestone development, Hashimoto thyroiditi...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Delayed early-childhood social milestone development, Hashimoto thyroiditi...	ORPHA:881
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Obesity, Low pulse pressure	ORPHA:86816
Jacobsen Syndrome	Inguinal hernia, Anteverted nares, Spina bifida, Cryptorchidism, Wide nasal bridge, Aortic valve ...	ORPHA:2308
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Scarring, Hiatus hernia, Crypt...	OMIM:601776
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Patent ...	ORPHA:980
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Patent du...	ORPHA:163979
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ...	OMIM:620066
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Depresse...	OMIM:612289
Congenital Enterovirus Infection	Myocarditis, CSF lymphocytic pleiocytosis, Irritability, Cardiomyopathy, Hypotension, Ventriculom...	ORPHA:292
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Cardiac-Urogenital Syndrome	Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorch...	OMIM:618280
Galloway-Mowat Syndrome 9	Choreoathetosis, Ventriculomegaly, Hiatus hernia	OMIM:619603
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Choanal atresia, Cryptorchidism, Patent ductus arteriosus, Ano...	ORPHA:2363
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Broad nasal tip, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian t...	ORPHA:1655
Zttk Syndrome	Aortic regurgitation, Depressed nasal bridge, Dysplastic corpus callosum, Patent ductus arteriosu...	OMIM:617140
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Meckel Syndrome 14	Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios	OMIM:619879
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Aggressive behavior, Precocious puberty, Obesity, Bifid nose, Umbilical h...	OMIM:301066
Primrose Syndrome	Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Tics, Abnormal repetitiv...	OMIM:259050
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Pentalogy Of Cantrell	Omphalocele, Encephalocele, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly	ORPHA:1335
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Patent ...	OMIM:313850
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Tall stature, Prominent nasal bridge, Large for gestational age, Gai...	OMIM:617011
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Obesity, Cardiomyopathy, Difficulty walking, Increased CSF protein concentration	ORPHA:98907
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Arthrogryposis multiplex congenita, Ve...	ORPHA:440713
Low Phospholipid-Associated Cholelithiasis	Overweight, Obesity	ORPHA:69663
Costello Syndrome	Anteverted nares, Depressed nasal bridge, Hydrocephalus, Achilles tendon contracture, Hypertrophi...	OMIM:218040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Anteverted nares, Depressed nasal bridge, Pachygyria, Repetitive compulsive beh...	ORPHA:513456
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia, Depressed nasal bridge	ORPHA:2268
Isotretinoin-Like Syndrome	Inguinal hernia, Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis	ORPHA:2306
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Obesity, Wide nas...	OMIM:617157
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencep...	OMIM:269860
Farber Disease	Macular degeneration, Cherry red spot of the macula, Failure to thrive, Recurrent upper respirato...	ORPHA:333
Dextrocardia	Abnormal reproductive system morphology, Abnormal EKG, Hydrocephalus, T-wave inversion	ORPHA:1666
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Decreased nerve conduction velocity, Primary adrenal insufficiency, Failu...	OMIM:261515
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, Patent ductus arteriosus, Wide na...	ORPHA:369837
Oculocerebrorenal Syndrome Of Lowe	Inguinal hernia, Hyperparathyroidism, Diabetes insipidus, Chorioretinal dysplasia, Abnormal denta...	ORPHA:534
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove...	ORPHA:71505
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Bulbous nose, Obesity, Wide nasal bridge, Bruxism, Umbilical hernia,...	ORPHA:48652
Generalized Pustular Psoriasis	Overweight, Obesity	ORPHA:247353
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Anteverted nares, Retinal degeneration	OMIM:618479
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Ataxia, Depressed nasal bridge, Rod-cone dystrophy, Wide nasal bridge, Macular...	OMIM:266920
Curry-Jones Syndrome	Lipomyelomeningocele, Occipital meningocele, Polymicrogyria, Agenesis of corpus callosum, Ventric...	OMIM:601707
Dubowitz Syndrome	Hypoparathyroidism, Depressed nasal bridge, Hypospadias, Cryptorchidism, Hydrocephalus, Attention...	ORPHA:235
Gabriele-De Vries Syndrome	Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ...	ORPHA:506358
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Clitoral hypertrophy, Aganglionic megacolon, Choanal atresia, Anteverted nar...	ORPHA:818
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hydrocephalus, Elbow fl...	OMIM:245600
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Oligohydramnios	OMIM:613451
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Congenital diaphragmatic hernia, Large f...	ORPHA:116
Cousin Syndrome	Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Camptodactyly, Hydranencep...	OMIM:260660
Desbuquois Dysplasia 2	Truncal obesity, Depressed nasal bridge	OMIM:615777
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidi...	OMIM:309580
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Cadds	Short nose, Adrenal hypoplasia, Ventriculomegaly	ORPHA:369942
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Ventriculomegaly	OMIM:304790
Baller-Gerold Syndrome	Optic nerve hypoplasia, Prominent nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Optic a...	OMIM:218600
Ciliary Dyskinesia, Primary, 19	Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis	OMIM:614935
Neu-Laxova Syndrome 1	Wide nose, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Depressed nasal ...	OMIM:256520
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligohydramnios	OMIM:251230
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Arthrogryposis multiple...	OMIM:259775
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, H...	OMIM:261540
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Left bundle branch block, Arrhythmia, Failure to thrive, Ventricular bigeminy	OMIM:610131
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gray matter hete...	OMIM:236680
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Neu-Laxova Syndrome 2	Depressed nasal ridge, Spina bifida, Lissencephaly, Ventriculomegaly	OMIM:616038
Distal Deletion 3P	Inguinal hernia, Anteverted nares, Cryptorchidism, Umbilical hernia, Ventriculomegaly	ORPHA:1620
Myhre Syndrome	Small for gestational age, Prominent nasal bridge, Ataxia, Cryptorchidism, Patent ductus arterios...	OMIM:139210
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Yunis-Varon Syndrome	Narrow nasal base, Anteverted nares, Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hyp...	ORPHA:3472
Crane-Heise Syndrome	Hypoplasia of penis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Ventriculomegaly	ORPHA:1512
Au-Kline Syndrome	Wide nasal ridge, Prominent nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid...	OMIM:616580
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Say-Barber-Miller Syndrome	Prominent nasal bridge, Broad nasal tip, Cryptorchidism, Optic atrophy, Macular degeneration, Rod...	ORPHA:3132
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Failure to thrive, Abnormal fundus morphology	ORPHA:94147
Gillespie Syndrome	Ataxia, Ventriculomegaly	OMIM:206700
Williams-Beuren Syndrome	Flexion contracture, Early onset of sexual maturation, Micropenis, Hypothyroidism, Anteverted nar...	OMIM:194050
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Cornelia De Lange Syndrome	Hypoplasia of penis, Anteverted nares, Choanal atresia, Depressed nasal bridge, Congenital diaphr...	ORPHA:199
Osteogenesis Imperfecta	Aortic regurgitation, Inguinal hernia, Small for gestational age, Ataxia, Abnormal dental enamel ...	ORPHA:666
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II...	OMIM:210720
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Ctcf-Related Neurodevelopmental Disorder	Inguinal hernia, Small for gestational age, Anteverted nares, Broad nasal tip, Phimosis, Cryptorc...	ORPHA:363611
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Bulbous nose, Umbilical hernia, Aortic valve stenosis, Ventriculomegaly	OMIM:614501
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho...	ORPHA:247234
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares	ORPHA:1064
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Mohr Syndrome	Bifid nasal tip, Hydrocephalus, Depressed nasal bridge, Broad nasal tip	OMIM:252100
Wolf-Hirschhorn Syndrome	Small for gestational age, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Wide n...	OMIM:194190
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Achondroplasia	Hydrocephalus, Choanal stenosis, Depressed nasal bridge	OMIM:100800
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Plague	Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia	ORPHA:707
Mowat-Wilson Syndrome	Bifid scrotum, Flexion contracture, Webbed penis, Micropenis, Agenesis of corpus callosum, Abnorm...	ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Prominent nose, Flexion contracture, Knee ...	OMIM:619503
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr...	OMIM:142945
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypos...	OMIM:312870
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus, Bifid uterus	ORPHA:2736
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failu...	ORPHA:85450
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Small for gestational age, Choanal atresia, Hypospadias, Bi...	OMIM:107480
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi...	OMIM:617072
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Fanconi Anemia, Complementation Group F	Microphthalmia, Polyhydramnios	OMIM:603467
Coffin-Siris Syndrome 12	Anteverted nares, Facial palsy, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped na...	OMIM:619325
Codas Syndrome	Omphalocele, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Rectovaginal fistula, Enam...	OMIM:600373
Slc39A8-Cdg	Failure to thrive in infancy, Inability to walk, Elbow flexion contracture, Knee flexion contract...	ORPHA:468699
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Cryptorch...	OMIM:208150
Fanconi Anemia, Complementation Group L	Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Attention deficit hyperactivity disorder, ...	OMIM:614083
Oeis Complex	Omphalocele, Bifid uterus, Cryptorchidism, Hydrocephalus, Myelomeningocele, Epispadias, Ambiguous...	OMIM:258040
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity	ORPHA:209902
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Carpenter Syndrome 2	Tricuspid regurgitation, Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryp...	OMIM:614976
Schinzel-Giedion Syndrome	Inguinal hernia, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Hypospadias, ...	ORPHA:798
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi...	ORPHA:137667
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Abnormal internal genitalia, Anencephaly	OMIM:612284
Cystinosis, Nephropathic	Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Ret...	OMIM:219800
Cole-Carpenter Syndrome	Communicating hydrocephalus, Abnormal dental enamel morphology	ORPHA:2050
Fraser Syndrome 3	Wide nose, Hypoplasia of penis, Small scrotum, Hydrocephalus, Convex nasal ridge	OMIM:617667
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, Elev...	ORPHA:90041
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Sacral lipoma	OMIM:600145
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Legius Syndrome	Hyperactivity, Paroxysmal atrial tachycardia, Ovarian neoplasm, Multiple lipomas, Vestibular schw...	ORPHA:137605
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Congestive ...	ORPHA:444077
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Prominent nasal bridge, Cryptorchidism, Hyd...	ORPHA:221120
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Difficulty walking, Falls, Ventriculomegaly	OMIM:618222
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Gait...	ORPHA:3042
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Choanal atresia, Congenital diaphragmatic hernia, Absent extern...	OMIM:273395
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Increased CSF lactate, Bradycardia, Dysphagia, Failure to thrive, Ventr...	OMIM:617248
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida, Oligohydramnios	ORPHA:3380
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Failure t...	ORPHA:2785
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Ulnar-Mammary Syndrome	Inguinal hernia, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delay...	OMIM:181450
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Dysbetalipoproteinemia	Hypothyroidism, Diabetes mellitus, Angina pectoris, Obesity	ORPHA:412
Limb Body Wall Complex	Ventral hernia, Encephalocele, Depressed nasal bridge, Choanal atresia, Congenital diaphragmatic ...	ORPHA:2369
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ...	OMIM:188400
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Wide nasal bridge, Ovarian carcinoma	OMIM:109400
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Overgrowth, Pheochromocytoma, Par...	OMIM:162200
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Patent ductus arteriosus, Pulm...	OMIM:306955
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Neutral Lipid Storage Myopathy	Diabetes mellitus, Congestive heart failure, Obesity, Pineal cyst, Cardiomyopathy, Difficulty wal...	ORPHA:98908
Exstrophy-Epispadias Complex	Omphalocele, Bifid scrotum, Inguinal hernia, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocep...	ORPHA:322
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Campomelic Dysplasia	Depressed nasal bridge, Hypospadias, Spina bifida, Contracture of the distal interphalangeal join...	OMIM:114290
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit...	ORPHA:268810
Mowat-Wilson Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Wide...	OMIM:235730
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Increased nuchal translucency, Ascites, Polyhydramnios	ORPHA:1052
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Ataxia, Decreased thalamic volume	ORPHA:168577
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration	OMIM:234200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Hypospadias, Wide nasal bridge, Heart murmur, Hydrocele...	ORPHA:1449
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis	OMIM:231005
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Peripapill...	OMIM:175780
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Patent ductus arteriosus, Abnormal heart valve physiology, Hyp...	ORPHA:3384
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Depressed nasal bridge, Abnormal cortical gyration, Choanal atresia, Pr...	ORPHA:480880
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin...	OMIM:601803
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Prominent...	OMIM:612474
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Coffin-Lowry Syndrome	Wide nose, Inguinal hernia, Anteverted nares, Thick nasal septum, Mitral regurgitation, Decreased...	OMIM:303600
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Corneal scarring, Joint contracture...	OMIM:309000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Adams-Oliver Syndrome 1	Encephalocele, Imperforate hymen, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertensio...	OMIM:100300
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Increased CSF protein concentration, Failure to thrive, Ataxia, Abnormality of visual evoked pote...	OMIM:203700
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:164210
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Wide nose, Depressed nasal bridge, Ataxia, Bulbous nose, Perisylvian polymicrogyria, Ventriculome...	OMIM:610442
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa...	ORPHA:722
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Urethrovaginal fistula, Cryp...	ORPHA:93271
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Hydrocephalus, Mitral regurgitation, Proportionate tall stature, Pulmonic s...	ORPHA:363700
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Loeys-Dietz Syndrome 1	Patent ductus arteriosus, Disproportionate tall stature, Hydrocephalus, Camptodactyly	OMIM:609192
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Split Cord Malformation	Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening...	ORPHA:573278
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Sotos Syndrome	Hip contracture, Ventriculomegaly, Inguinal hernia, Aganglionic megacolon, Hypospadias, Ankle fle...	ORPHA:821
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Fryns Syndrome	Microphthalmia, Chylothorax, Polyhydramnios	OMIM:229850
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Ankle flexion contracture, Underdeveloped nasal alae, Cryptor...	OMIM:268300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Aganglionic megacolon, Hypospadias, Cryptorchidism, Recurrent upper...	OMIM:308205
Loeys-Dietz Syndrome 2	Inguinal hernia, Hydrocephalus, Patent ductus arteriosus, Disproportionate tall stature, Camptoda...	OMIM:610168
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Otopalatodigital Syndrome, Type Ii	Omphalocele, Depressed nasal bridge, Elbow contracture, Spina bifida, Hypospadias, Cryptorchidism...	OMIM:304120
Roberts Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3103
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Polyhydramnios	OMIM:620186
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Oligohydramnios	OMIM:608670
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Lysinuric Protein Intolerance	Truncal obesity, Failure to thrive	OMIM:222700
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Low-ou...	ORPHA:99125
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:619539
Monosomy 13Q14	Microphthalmia	ORPHA:1587
8Q24.3 Microdeletion Syndrome	Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Spina bifida occulta, Oligohydr...	ORPHA:508488
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Oligohydramnios	ORPHA:672
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857

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 Bbs1

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bbs1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.	Molecular therapy. Nucleic acids (December 2022)	Bbs10^{tm1.1(KOMP)Vlcg} Bbs10^{tm1(KOMP)Vlcg}	PMC9841241
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.	Disease models & mechanisms (September 2022)	Bbs10^{tm1.1(KOMP)Vlcg}	PMC9536196

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Bbs1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Bbs1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Bbs1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Bbs1 MGI:1277215

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Bbs1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data