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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 placenta morphology	Bbs1^em1(IMPC)Mbp	HET	E15.5
small heart	Bbs1^em1(IMPC)Mbp	HET	Early adult
microphthalmia	Bbs1^em1(IMPC)Mbp	HET	E15.5
abnormal blood vessel morphology	Bbs1^em1(IMPC)Mbp	HET	E15.5
preweaning lethality, complete penetrance	Bbs1^em1(IMPC)Mbp	HOM	Early adult
abnormal placenta vasculature	Bbs1^em1(IMPC)Mbp	HOM	E15.5
anophthalmia	Bbs1^em1(IMPC)Mbp	HET	Early adult
abnormal eye morphology	Bbs1^em1(IMPC)Mbp	HET	Early adult
edema	Bbs1^em1(IMPC)Mbp	HET	E15.5
edema	Bbs1^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta morphology	Bbs1^em1(IMPC)Mbp	HOM	E15.5
abnormal heart morphology	Bbs1^em1(IMPC)Mbp	HET	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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Gross Morphology Embryo E14.5-E15.5

Images

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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 (2203 diseases)

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

Disease	Matching phenotypes	Source
Retinitis Pigmentosa	Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation...	ORPHA:791
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Hyperautofluorescent macular lesion, Gait imbalance, Att...	OMIM:209900
Bardet-Biedl Syndrome	Hydrometrocolpos, Type II diabetes mellitus, Emotional lability, Cryptorchidism, Cone/cone-rod dy...	ORPHA:110

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

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Bardet-Biedl Syndrome 13	Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Lipedema	Edema	OMIM:614103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Bardet-Biedl Syndrome 11	Obesity, Retinopathy	OMIM:615988
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Retinal Dystrophy And Obesity	Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac...	OMIM:616188
Cach Syndrome	Optic atrophy, Lateral ventricle dilatation, Gonadal dysgenesis, Limb ataxia, Dysgyria, Dysmetria...	ORPHA:135
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Bardet-Biedl Syndrome 18	Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Bardet-Biedl Syndrome 14	Obesity, Rod-cone dystrophy	OMIM:615991
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Bardet-Biedl Syndrome 10	Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:615987
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Bilateral cryptorchidism, Polymicrogyria, Anteverted nares, Micropenis	OMIM:300982
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Martsolf Syndrome 2	Broad nasal tip, Lateral ventricle dilatation, Camptodactyly of finger, Decreased body weight, Hy...	OMIM:619420
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Autism, Susceptibility To, X-Linked 6	Obesity, Underdeveloped nasal alae	OMIM:300872
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Ataxia	ORPHA:2732
Joubert Syndrome 3	Wide nasal bridge, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricle di...	OMIM:608629
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Anophthalmia, Ventricular septal defect	OMIM:615524
Morm Syndrome	Truncal obesity, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Elbow flexion contracture, Aggressive behavior, Hydrocephalus, H...	OMIM:619470
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Ventriculomegaly, Abnormal neuron morphology, Simplified gyral pattern	ORPHA:329228
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Ventriculomegaly, Camptodactyly of finger, Inappropriate laughter, Gait ataxia, Fl...	OMIM:619323
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
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Pontocerebellar Hypoplasia, Type 1A	Congenital contracture, Lateral ventricle dilatation, Limb ataxia, Ataxia, Dysphagia, Degeneratio...	OMIM:607596
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Polymicrogyria Due To Tubb2B Mutation	Abnormal temper tantrums, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callos...	ORPHA:300573
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Lateral ventricle dilatation, Abnormal upper motor neuron morphology, Dis...	OMIM:221770
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Leukoencephalopathy, Progressive, With Ovarian Failure	Premature ovarian insufficiency, Depression, Lateral ventricle dilatation, Ataxia	OMIM:615889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Hy...	OMIM:618709
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Restlessness, Retinal pigm...	OMIM:619517
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto...	OMIM:604213
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Bradykinesia, Depression, Lateral ventricle dilatation	ORPHA:306669
Bardet-Biedl Syndrome 5	Obesity, Macular dystrophy, Rod-cone dystrophy	OMIM:615983
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Bulbous nose, Macular hypoplasia, Co...	ORPHA:2185
Huntington Disease	Depression, Decreased body mass index, Oral-pharyngeal dysphagia, Hostility, Difficulty walking, ...	ORPHA:399
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilate...	OMIM:613443
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Polyrrhinia	Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Abnormal th...	ORPHA:141091
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Obesity, Cone/cone-rod dystrophy, Hypoplas...	OMIM:617406
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Failure to thrive in infancy, Dec...	OMIM:617800
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Combined Oxidative Phosphorylation Deficiency 54	Periventricular nodular heterotopia, Obesity, Dysplastic corpus callosum, Optic disc pallor, Prim...	OMIM:619737
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation, Inability to walk, Abnormality of pattern vis...	ORPHA:2822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Ankle flexion contracture, Lateral ventricle dilatation, Failure to thriv...	ORPHA:284417
Hernández-Aguirre Negrete Syndrome	Bulbous nose, Obesity	ORPHA:2139
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Adams-Oliver Syndrome 2	Optic atrophy, Depressed nasal bridge, Lateral ventricle dilatation, Polymicrogyria, Bulbous nose...	OMIM:614219
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Inability to walk, Partial agenes...	ORPHA:79243
Malan Overgrowth Syndrome	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Optic disc hypoplasia, Ep...	ORPHA:420179
Lissencephaly 4	Wide nasal bridge, Agenesis of corpus callosum, Colpocephaly, Lissencephaly, Simplified gyral pat...	OMIM:614019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Dilated third ventricle, Retinal dysplasia, Lateral ventri...	OMIM:613154
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypospadias, Lateral ventricle dilatation, Umbilical hernia, Polymicrogyria, Dilated fourth ventr...	OMIM:617751
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Mehmo Syndrome	Ventriculomegaly, Broad nasal tip, Male hypogonadism, Difficulty walking, Inability to walk, Depr...	OMIM:300148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Lateral ventricle dilatation, Retinal pigment epithelial mottling, Bulbou...	OMIM:614105
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615938
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Ventriculomegaly, Delayed early-childhood social milestone development, Lissencephaly, Periventri...	OMIM:618677
Intellectual Developmental Disorder, X-Linked 91	Obesity, Short nose	OMIM:300577
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Contra...	ORPHA:3078
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Joint contracture	OMIM:618266
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Bardet-Biedl Syndrome 4	Obesity, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Polymicrogyria	OMIM:615937
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Anteverted nares, Bradyc...	OMIM:610015
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Underdeveloped nasal alae, Attenuation of retinal blood vessels, Bone spicule pigmentation of the...	OMIM:616108
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Obesity, Rod-cone dystrophy	OMIM:615984
Developmental And Epileptic Encephalopathy 36	Optic atrophy, Anteverted nares, Self-mutilation, Hydrocephalus, Flexion contracture	OMIM:300884
Bardet-Biedl Syndrome 16	Obesity, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Patent ductus arteriosus, Hypospadias, Lateral ventricle dilatation	OMIM:618330
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr...	ORPHA:71526
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Gombo Syndrome	Microphthalmia	OMIM:233270
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Retinopathy, Lethargy, Gait disturbance, Hydrocephalus	ORPHA:26
Simpson-Golabi-Behmel Syndrome, Type 2	Ventriculomegaly, Recurrent upper respiratory tract infections, Obesity, Inguinal hernia	OMIM:300209
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Dandy-Walker mal...	OMIM:618736
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Lateral ventricle dilatation, Inability to walk, Reduced social reciprocity, At...	OMIM:617854
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotr...	OMIM:620315
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Lateral ventricle dilatation, Increased CSF lactate, Decreased nerve conduction vel...	ORPHA:565624
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age, Macular hypopigmentation, Polyphagia, Rod-cone ...	OMIM:617119
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Bardet-Biedl Syndrome 2	Obesity, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Lissencephaly 3	Ventriculomegaly, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosu...	OMIM:611603
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Simplified gyral pattern	OMIM:617668
Lissencephaly 1	Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Liss...	OMIM:607432
Spastic Paraplegia 88, Autosomal Dominant	Attention deficit hyperactivity disorder, Ventriculomegaly, Unsteady gait	OMIM:620106
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Inability to walk, Bruxism, Sho...	OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Cryptorchidism	OMIM:616816
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Tip-toe gait, Obesity, Optic nerve dysplas...	OMIM:617296
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Polymicrogyria, Bilateral Temporooccipital	Aggressive behavior, Ventriculomegaly, Polymicrogyria	OMIM:612691
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Multiple Mitochondrial Dysfunctions Syndrome 5	Pachygyria, Ventriculomegaly, Pigmentary retinopathy	OMIM:617613
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdural hemorrhage, Lateral vent...	OMIM:618291
Pineocytoma	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251912
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Abnormal thalamus morphology, Polymicrogyria, Inability to walk, Ty...	ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Ventriculomegaly, Simplified gyral pattern	OMIM:615763
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy	OMIM:610156
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Excessive insulin response ...	ORPHA:324575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Hydrocephalus	OMIM:614830
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Atypical Teratoid Rhabdoid Tumor	Irritability, Hydrocephalus, Ataxia	ORPHA:99966
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Premature adrenarche, Small scrotum, Absence of pubertal developm...	ORPHA:398079
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Ventriculomegaly, Primary amenorrhea, Unsteady gait, Secondary amenorrhea	OMIM:620314
Alg13-Cdg	Abnormal lateral ventricle morphology, Anteverted nares, Decreased body weight	ORPHA:324422
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Depression, Focal T2 hyperintense thalamic lesion, Emotional lability, Re...	ORPHA:79264
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, External genital hypoplasia, Cone/cone-rod dystrophy, Rod-cone dystrophy, ...	OMIM:615996
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
11P15.4 Microduplication Syndrome	Obesity, Anteverted nares	ORPHA:300305
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Leptin Receptor Deficiency	Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te...	OMIM:614963
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Macrocephaly, Acquired, With Impaired Intellectual Development	Ventriculomegaly, Narrow nasal bridge, Anteverted nares, Agenesis of corpus callosum, Aggressive ...	OMIM:618286
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Lethargy, Cerebral h...	OMIM:617397
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Lateral ventricle dilatation	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Wide nasal bridge, Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hy...	OMIM:616521
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ...	ORPHA:276556
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Alg2-Cdg	Wide nasal bridge, Lateral ventricle dilatation	ORPHA:79326
Fried Syndrome	Hydrocephalus, Gait disturbance, Abnormal optic nerve morphology, Aggressive behavior	ORPHA:85335
Chromosome Xq21 Deletion Syndrome	Obesity, Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia	OMIM:303110
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Hyposmia, Focal T2 hyperintense thalamic lesion, Azoos...	OMIM:613724
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Simplified gyral pattern, Hyperactivity, Ataxia	OMIM:613402
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Inability to walk, Hydrocephalus, Ataxia, Pachygyria, Delayed early-childhood soci...	OMIM:618174
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Small for gestational age, Retinal degeneration	OMIM:275400
Microlissencephaly	Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopi...	ORPHA:1083
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Retinal dysplasia, Camptodactyly of fing...	ORPHA:272
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv...	ORPHA:250972
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:179494
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Failure to thrive, Inability to walk, Anteverted nares, Gait ataxia...	OMIM:618606
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Self-injurious behavior, Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Failure to thri...	OMIM:619833
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Difficulty wal...	ORPHA:572798
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Retinal deta...	OMIM:613153
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Tip-toe gait, Obesity, Retinal degeneration, Agenesis of corpus callosum, A...	OMIM:604360
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Craniotelencephalic Dysplasia	Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Septo-optic dys...	ORPHA:1528
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Obesity, Broad nasal tip, Short nose	OMIM:613670
X-Linked Parkinsonism-Spasticity Syndrome	Scissor gait, Dilated third ventricle, Lateral ventricle dilatation, Bradykinesia	ORPHA:363654
Yoon-Bellen Neurodevelopmental Syndrome	Optic atrophy, Ventriculomegaly, Failure to thrive, Inability to walk, Ataxia	OMIM:619701
Masa Syndrome	Ventriculomegaly, Gait disturbance, Agenesis of corpus callosum, Camptodactyly of finger	ORPHA:2466
Microcephaly 17, Primary, Autosomal Recessive	Ventriculomegaly, Failure to thrive, Bulbous nose, Agenesis of corpus callosum, Microlissencephal...	OMIM:617090
Optic Atrophy 16	Paroxysmal tachycardia, Temporal optic disc pallor	OMIM:620629
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Irritability, Pachygyria, Flexion contracture, Agyria, Dysphagia, A...	ORPHA:2148
Xq27.3Q28 Duplication Syndrome	Bulbous nose, Failure to thrive, Truncal obesity	ORPHA:261483
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation, Oral-pharyngeal dysphagia	ORPHA:208447
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matt...	ORPHA:352682
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Lateral ventricle dilatation, Umbilical hernia, Inguinal hernia, Joint c...	OMIM:618914
Retinitis Pigmentosa 51	Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of...	OMIM:613464
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Leptin Deficiency Or Dysfunction	Recurrent upper respiratory tract infections, Hypogonadism, Decreased testicular size, Obesity, P...	OMIM:614962
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small scrotum, Absence of pubertal development, Type II diabetes ...	ORPHA:398069
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Delayed earl...	OMIM:619302
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Bowen-Conradi Syndrome	Ventriculomegaly, Prominent nose, Cryptorchidism, Camptodactyly of finger	ORPHA:1270
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Prominent nose, Cryptorchidism, Agenesis o...	OMIM:619244
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Retinal dysplasia	ORPHA:324416
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy	OMIM:601794
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe...	ORPHA:254516
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Compulsive behaviors	ORPHA:500166
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Hyperinsuli...	ORPHA:276608
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
48,Xxyy Syndrome	Ventriculomegaly, Depression, Abnormal dental enamel morphology, Tall stature, Azoospermia, Obesi...	ORPHA:10
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Inability to walk, Obesity, Ataxia, Retinal dystrophy, Waddling gait	OMIM:616756
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Bardet-Biedl Syndrome 17	Anosmia, Polydipsia, Hypogonadism, Obesity, Retinal degeneration, Cone/cone-rod dystrophy, Bone s...	OMIM:615994
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Craniopharyngioma	Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obes...	ORPHA:54595
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:171703
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Pontocerebellar Hypoplasia, Type 14	Simplified gyral pattern, Delayed early-childhood social milestone development, Hydrocephalus, Ag...	OMIM:619301
Aicardi Syndrome	Precocious puberty, Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Optic d...	OMIM:304050
Peho-Like Syndrome	Optic atrophy, Ventriculomegaly, Polymicrogyria, Short nose, Pachygyria, Lissencephaly	OMIM:617507
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Meckel Syndrome, Type 8	Pericardial effusion, Anophthalmia, Microphthalmia	OMIM:613885
Bardet-Biedl Syndrome 9	Irregular menstruation, Polydipsia, Obesity, Attenuation of retinal blood vessels, Retinal degene...	OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Diencephalic Syndrome	Optic atrophy, Long penis, Decreased body weight, Cachexia, Hydrocephalus, Abnormality of the hyp...	ORPHA:1672
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:66628
Aicardi-Goutieres Syndrome 9	Optic atrophy, Lateral ventricle dilatation, Failure to thrive, Portal hypertension, Chorioretina...	OMIM:619487
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
1Q21.1 Microduplication Syndrome	Hypospadias, Failure to thrive, Cryptorchidism, Attention deficit hyperactivity disorder, Hydroce...	ORPHA:250994
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine c...	OMIM:616034
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen	OMIM:608895
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Small for gestational age, Retinal degeneration	ORPHA:3363
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Depressed nasal bridge, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Wide ...	ORPHA:488635
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Obesity, Polyp...	ORPHA:369873
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Failure to thrive in infancy,...	ORPHA:488627
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis of corpus callosum	OMIM:619501
Nanophthalmos	Microphthalmia	ORPHA:35612
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnorma...	ORPHA:3085
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Depressed nasal bridge, Ventriculomegaly, Polymicrogyria, Hypogonadism, Bulbous nose, Decreased t...	OMIM:300354
47,Xyy Syndrome	Varicocele, Male infertility, Tall stature, Azoospermia, Cryptorchidism, Reduced social reciproci...	ORPHA:8
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Pachygyria, Ventriculomegaly, Lissencephaly, Polymicrogyria	OMIM:618730
Septo-Optic Dysplasia Spectrum	Anosmia, Polydipsia, Obesity, Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Ant...	ORPHA:3157
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance	OMIM:611808
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98793
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Kleine-Levin Syndrome	Depression, Polydipsia, Parosmia, Abnormal eating behavior, Decreased libido, Irritability, Sweet...	ORPHA:33543
Microcephaly 5, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Ventriculomegaly, Simplified gyral pattern, Agenesis of...	OMIM:608716
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Meningioma	Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o...	ORPHA:2495
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Elevated CSF D-2-hydroxygluta...	OMIM:600721
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98754
Slc35A2-Cdg	Precocious puberty, Lateral ventricle dilatation, Elevated circulating thyroid-stimulating hormon...	ORPHA:356961
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177904
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:171706
Masa Syndrome	Ventriculomegaly, Shuffling gait, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia	ORPHA:329249
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy...	OMIM:146110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177901
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agitation, Agangli...	OMIM:613870
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Wide nose	ORPHA:276630
Nanophthalmos 4	Microphthalmia	OMIM:615972
Lissencephaly 5	Optic atrophy, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterot...	OMIM:615191
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Simplified gyral pattern, Gait ataxia, Agenesis of corpus callosum	OMIM:616540
Central Neurocytoma	Depression, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalus, Ataxia	ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Colpocephaly, Pachygyria	OMIM:614870
Anencephaly 2	Anophthalmia	OMIM:619452
Hsd10 Disease	Optic atrophy, Ventriculomegaly, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal s...	ORPHA:391417
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptor...	ORPHA:544488
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Lateral ventricle dilatation, Facial palsy	OMIM:256850
Refsum Disease, Classic	Anosmia, Increased CSF protein concentration, Cardiomyopathy, Congestive heart failure, Retinal d...	OMIM:266500
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Luscan-Lumish Syndrome	Irregular menstruation, Ventriculomegaly, Obesity, Polycystic ovaries, Aggressive behavior, Polyp...	OMIM:616831
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Hydrocele testis, Inguinal hernia	ORPHA:85290
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly, Dysphagia, Ataxia	OMIM:613925
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Inability to walk, Ventriculomegaly, Spastic gait, Ataxia	OMIM:616486
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Cardiomyopathy, Inability to walk, Hydrocephalus, Flexion con...	OMIM:613155
Immunodeficiency 61	Obesity, Recurrent sinusitis	OMIM:300310
Developmental And Epileptic Encephalopathy 97	Inability to walk, Ventriculomegaly, Stereotypical hand wringing	OMIM:619561
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Depressed nasal bridge, Lateral ventricle dilatation, Aggressive behavio...	OMIM:620075
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infer...	OMIM:615703
Joubert Syndrome 10	Wide nasal bridge, Frequent temper tantrums, Obesity, Dysmetria, Decreased body weight, Polyphagi...	OMIM:300804
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Restless legs, Steppage gait, Hydrocephalus, Inability to walk by childhood/adoles...	ORPHA:99947
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Undetectable visual evoked potentials, Ventriculomegaly, Chorioretinal coloboma, Thick nasal alae...	ORPHA:163961
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Ambiguous genitalia, Hydrocephalus	OMIM:209970
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Obesity, Stereotypical hand wr...	OMIM:619229
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Broad nasal tip, Self-injurious be...	OMIM:615485
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Depressed nasal bridge, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Later...	ORPHA:397715
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Ventriculomegaly, Broad-based gait, Gait ataxia, Recurrent hand flapping, Motor stereotypy, Dysph...	OMIM:617862
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Wide nasal bridge, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymi...	OMIM:620371
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Anterior pituitary hypoplasia, Motor stereotypy, Patent ductus arte...	ORPHA:177907
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to...	ORPHA:137675
Narp Syndrome	Ventriculomegaly, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Irritabilit...	ORPHA:644
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Distal Deletion 10Q	Wide nasal bridge, Lateral ventricle dilatation, Failure to thrive, Prominent nose, Prominent nas...	ORPHA:96148
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Hypogonadotropic Hypogonadism 27 Without Anosmia	Anosmia, Obesity	OMIM:619755
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Ventriculomegaly, Abnormality of connective tissue, Multiple joint contra...	ORPHA:370968
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Bulbous nose, Agenesis of corpus callosu...	OMIM:615219
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Contracture of...	ORPHA:457279
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Inability to walk, Irritability, Lo...	OMIM:618241
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Temple Syndrome	Precocious puberty, Depressed nasal bridge, Maturity-onset diabetes of the young, Decreased testi...	OMIM:616222
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Chori...	OMIM:220220
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadot...	ORPHA:2183
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Low ins...	OMIM:619995
Summitt Syndrome	Tall stature, Obesity, Depressed nasal ridge, Wide nose	ORPHA:3210
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Obesity, Short nose	OMIM:611936
Biemond Syndrome Type 2	Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias	ORPHA:141333
Spastic Paraplegia 47, Autosomal Recessive	Wide nasal bridge, Ventriculomegaly, Inability to walk, Bulbous nose, Excessive shyness, Flexion ...	OMIM:614066
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Cardiomyopat...	ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Bulbous nose, Obesity	OMIM:300238
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Microcephaly-Cardiomyopathy Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Abnormality of retinal pigmentation	ORPHA:2515
Leber Hereditary Optic Neuropathy	Ataxia, Optic atrophy, Retinal vascular tortuosity, Arrhythmia, Ventricular preexcitation, Retina...	ORPHA:104
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613660
Trisomy 5P	Ventriculomegaly, Obesity, Hypoplasia of penis	ORPHA:1742
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ventriculomegaly, Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor ster...	OMIM:619150
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Depression, Hydrocephalus, Adrenal medullary hypoplasia	OMIM:248000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Hematochezia, Depressed nasal bridge, Dilated third ventricle, Head-bang...	OMIM:619575
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia, Optic atrophy, Decreased motor nerve conduction velocity, Steppage gait, Optic disc pall...	OMIM:601152
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Failure to thri...	OMIM:300952
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Cryptorchidism, Micropenis, Dysphagia, Small for gestational age	OMIM:619847
Leber Congenital Amaurosis 4	Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Polyphagia, H...	ORPHA:739
Idiopathic Intracranial Hypertension	Depression, Abnormal emotion, Obesity, Focal sensory seizure with olfactory features, Lethargy, P...	ORPHA:238624
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Trimethylaminuria	Tachycardia, Depression, Hypertension	OMIM:602079
Weaver Syndrome	Depressed nasal bridge, Joint contracture of the hand, Ventriculomegaly, Lateral ventricle dilata...	OMIM:277590
Hemimegalencephaly	Optic atrophy, Ventriculomegaly, Polymicrogyria, Gray matter heterotopia, Pachygyria, Abnormal ne...	ORPHA:99802
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly, Inguinal hernia, Cryptorchidism	ORPHA:1568
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Intellectual Developmental Disorder, Autosomal Dominant 72	Bulbous nose, Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivit...	OMIM:620439
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Bardet-Biedl Syndrome 8	Obesity, Rod-cone dystrophy	OMIM:615985
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Schaaf-Yang Syndrome	Inability to walk, Hypogonadism, Failure to thrive in infancy, Obesity, Cryptorchidism, Polyphagi...	OMIM:615547
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Anosmia, Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hyp...	OMIM:610628
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Congenital Toxoplasmosis	Failure to thrive in infancy, Hydrocephalus, Ventriculomegaly, Abnormality of retinal pigmentation	ORPHA:858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Hypoplas...	ORPHA:3055
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Obesity, Overweight	OMIM:614651
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio...	ORPHA:300373
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Polymicrogyria, Hernia, Overgrowth, Hydrocephalus	OMIM:602501
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Irritability, Polyphagia	OMIM:600274
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Obesity, Rod-cone dystrophy	OMIM:600151
Body Mass Index Quantitative Trait Locus 19	Anosmia, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia, Hyposmia	OMIM:617885
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Inguinal hernia, Abnormality of the sense...	ORPHA:1135
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Difficulty ...	ORPHA:464738
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal optic disc morph...	ORPHA:96121
Laurence-Moon Syndrome	Pigmentary retinopathy, Obesity, Chorioretinal atrophy	OMIM:245800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitatio...	OMIM:607485
Walker-Warburg Syndrome	Lissencephaly, Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Abnormal optic nerve ...	ORPHA:899
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Intellectual Developmental Disorder, X-Linked 12	Ventriculomegaly, Depression, Microphallus, Cryptorchidism, Abnormality of neuronal migration, Ga...	OMIM:300957
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Umbilical hernia, Anteverted nares, Short columella, Obesity, Cryptorchid...	ORPHA:171839
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Tricuspid regurgitation, Anteverted nares, Agenesis of corpus callo...	OMIM:612863
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Lissencephaly 8	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, ...	OMIM:617255
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Hsd10 Mitochondrial Disease	Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration	OMIM:300438
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Retinal atrophy, Rod-cone dystrophy, Neonatal death	OMIM:610127
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Lissencephaly Due To Tuba1A Mutation	Ventriculomegaly, Polymicrogyria, Dilated fourth ventricle, Agenesis of corpus callosum, Dysplast...	ORPHA:171680
Helsmoortel-Van Der Aa Syndrome	Lateral ventricle dilatation, Mitral regurgitation, Cryptorchidism, Polyphagia, Dysphagia, Motor ...	OMIM:615873
Atkin-Flaitz Syndrome	Obesity, Broad nasal tip, Anteverted nares	ORPHA:1193
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Anosmia, Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Az...	OMIM:308700
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Cog5-Cdg	Wide nasal bridge, Joint contracture of the hand, Lateral ventricle dilatation, Camptodactyly of ...	ORPHA:263487
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Clark-Baraitser Syndrome	Depressed nasal bridge, Obesity, Anteverted nares, Low hanging columella, Short nose	OMIM:617752
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Rafiq Syndrome	Wide nasal bridge, Bulbous nose, Obesity, Prominent nose, Underdeveloped nasolabial fold, Truncal...	OMIM:614202
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Diabetes mellitus, Lateral ventricle dilatation	OMIM:619278
Krabbe Disease	Optic atrophy, Increased CSF protein concentration, Failure to thrive, Decreased nerve conduction...	OMIM:245200
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Choreoathetosis, Failure to thrive	OMIM:231670
6Q16 Microdeletion Syndrome	Depressed nasal bridge, Broad-based gait, Abnormal temper tantrums, Bulbous nose, Anteverted nare...	ORPHA:171829
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Depressed nasal bridge, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels...	OMIM:619260
Superficial Siderosis	Enlarged sylvian cistern, Anosmia, Partial anosmia, Increased CSF protein concentration, Abnormal...	ORPHA:247245
Oguchi Disease	Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness	ORPHA:75382
Developmental And Epileptic Encephalopathy 59	Inability to walk, Ventriculomegaly, Self-injurious behavior, Ataxia	OMIM:617904
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hyposmia	OMIM:615266
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Ventriculomegaly, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady...	OMIM:301107
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Optic atrophy, Ventriculomegaly, Dilated fourth ventricle, Simplified gyral pattern, Agenesis of ...	OMIM:620428
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Obesity, Congenital stationary night blindness	ORPHA:352530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Failure to thrive, Polymicrogyria, Cereb...	ORPHA:60040
14Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Obesity, Polyphagia, Attention deficit hyperactivity d...	ORPHA:261229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Neuroendocrine neoplasm, Umbilical hernia, Tricuspid regurgitation, Short colum...	ORPHA:404443
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Broad-based gait, Ventriculomegaly, Difficulty walking, Progressive truncal ataxia, Multiple join...	ORPHA:363429
Holoprosencephaly	Chorioretinal coloboma, Congenital diaphragmatic hernia, Encephalocele, Cryptorchidism, Arrhythmi...	ORPHA:2162
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Coproporphyria, Hereditary	Tachycardia, Depression, Hypertension	OMIM:121300
Young-Onset Parkinson Disease	Depression, Male sexual dysfunction, Female sexual dysfunction, Gait imbalance, Restless legs, Ag...	ORPHA:2828
Joubert Syndrome 30	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Retinal dystrophy, Gray matter het...	OMIM:617622
Graves Disease	Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Irritability, Po...	OMIM:275000
Juvenile Huntington Disease	Broad-based gait, Ventriculomegaly, Depression, Gait ataxia, Irritability, Weight loss, Hyperacti...	ORPHA:248111
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agenesis of corpus callosum, Retinal degeneration, Hydrocephalus, Flexion ...	OMIM:615249
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Nasu-Hakola Disease	Ventriculomegaly, Disinhibition, Irritability, Hydrocephalus, Abnormal adipose tissue morphology	ORPHA:2770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Obesi...	ORPHA:3077
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Anosmia, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonad...	OMIM:147950
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Adiposis Dolorosa	Obesity	OMIM:103200
Hydrolethalus	Cryptorchidism, Abnormality of the sense of smell, Agenesis of corpus callosum, Abnormal fallopia...	ORPHA:2189
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Lateral ventricle dilatation, Camptodactyly of finger,...	ORPHA:1692
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal ti...	ORPHA:293725
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Ventriculomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Ataxia...	OMIM:618228
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Underdeveloped nasal alae, Narrow naris, Failure to thrive, General...	OMIM:614098
Intellectual Developmental Disorder, Autosomal Recessive 46	Self-injurious behavior, Ventriculomegaly, Large for gestational age, Aggressive behavior, Ataxia...	OMIM:616116
Gómez-López-Hernández Syndrome	Anteverted nares, Hydrocephalus, Ataxia	ORPHA:1532
Congenital Muscular Dystrophy Without Intellectual Disability	Ventriculomegaly, Tip-toe gait, Difficulty walking, Facial diplegia, Achilles tendon contracture,...	ORPHA:370980
Peroxisome Biogenesis Disorder 9B	Anosmia, Cardiomyopathy, Total anosmia, Rod-cone dystrophy, Ataxia	OMIM:614879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Polymicrogyria, Type II lissencephaly, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Precocious puberty, Self-injurious b...	ORPHA:819
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Emotional blunting, Motor stereo...	OMIM:172700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Prominent nose, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
11Q22.2Q22.3 Microdeletion Syndrome	Depressed nasal bridge, Obesity	ORPHA:444002
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Ventriculomegaly, Polymicrogyria, Increased CSF lactate, Irritability, Increased C...	OMIM:615330
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:304100
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Lateral ventricle dilatation, Failure to thrive in infancy, Anteverted nares, ...	OMIM:611209
Halperin-Birk Syndrome	Optic atrophy, Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Umbilical hernia...	OMIM:618651
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Ventriculomegaly, Failure to thrive, Irritability, Agenesis of corpus callosum, Co...	OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ...	OMIM:614643
Distal 16P11.2 Microdeletion Syndrome	Obesity, Prominent nasal bridge, Aganglionic megacolon, Rod-cone dystrophy, Retinal dystrophy	ORPHA:261222
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Ventriculomegaly, Inability to walk, Left ventricular systolic dysfunctio...	OMIM:613156
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Wide nasal bridge, Ventriculomegaly, Prominent nose, Reduced social reciprocity, Attention defici...	ORPHA:137831
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Neuronal Intranuclear Inclusion Disease	Increased CSF protein concentration, Ventriculomegaly, Decreased motor nerve conduction velocity,...	OMIM:603472
Narcolepsy Type 1	Precocious puberty, Depression, Male sexual dysfunction, Female sexual dysfunction, Obesity, Rest...	ORPHA:2073
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Ventriculomegaly, Short nose, Camptodactyly of finger	ORPHA:1495
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ventriculomegaly, Depression, Gait ataxia, Emotional lability, Ataxia	OMIM:615362
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Angelman Syndrome	Self-injurious behavior, Optic atrophy, Broad-based gait, Precocious puberty in females, Inabilit...	ORPHA:72
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Ventriculomegaly, Difficulty walking, Bulbous nose, Inappropriate laughter, Perive...	OMIM:618476
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Ventricular septal defect, Atrial septal defect, Mi...	ORPHA:3378
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Decreased response to growth hormone...	OMIM:615286
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Attention deficit hyperactivity disorder, Hydroc...	ORPHA:261102
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Aggressive behavior, Ventriculomegaly, Slender build	OMIM:300699
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Ventriculomegaly, Polymicrogyria, Inability to walk, Bruxism, Inappropri...	OMIM:614254
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Ataxia, Ventriculomegaly, Broad-based gait, Emotional lability, Telangiectases producing 'marbled...	OMIM:206570
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Hypoplastic female external genitalia, Anteverted nares, Cry...	OMIM:618577
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Polyphagia, Optic disc...	OMIM:607872
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypogonadotropic hypogonadism, Polyphagia, Obesity	ORPHA:177910
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Short nose	ORPHA:2429
Xq12-Q13.3 Duplication Syndrome	Depressed nasal bridge, Ventriculomegaly, Recurrent upper respiratory tract infections, Bulimia, ...	ORPHA:314389
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Anteverted nares	ORPHA:480907
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Azo...	OMIM:614897
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Anorexia, Cardi...	ORPHA:49827
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Decreased nerve conduction velocity, Arrhythmia, Gait disturbance, Trunc...	ORPHA:2928
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Man1B1-Cdg	Wide nasal bridge, Broad-based gait, Prominent nose, Underdeveloped nasolabial fold, Periventricu...	ORPHA:397941
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Dysphagia, Cardiomyopathy	OMIM:255100
Pettigrew Syndrome	Self-injurious behavior, Optic atrophy, Ventriculomegaly, Prominent nose, Gait ataxia, Stereotypi...	OMIM:304340
Kallmann Syndrome	Anosmia, Abnormal morphology of female internal genitalia, Decreased testicular size, Hypothalami...	ORPHA:478
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly, Ataxia	OMIM:618383
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Ventriculomegaly, Hypospadias, Increased CSF lactate, Irritability, Loss of ambula...	OMIM:618253
X-Linked Intellectual Disability, Stevenson Type	Thick nasal alae, Tall stature, Obesity, Broad columella	ORPHA:85325
Wilson-Turner Syndrome	Broad nasal tip, Truncal obesity	ORPHA:3459
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:397951
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Shuffling gait, Male hypogonadism, Bradykinesia, Bruxism, Obesity, Emotional lability, Wrist flex...	OMIM:300055
Senior-Loken Syndrome 9	Obesity, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
X-Linked Intellectual Disability, Shashi Type	Bulbous nose, Obesity	ORPHA:85286
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity, Anteverted nares, Short nose	OMIM:619854
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Obesity, Hydrocephalus, Retinal degeneration	OMIM:615630
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Polymicrogyria, Anteverted nares, Congenital diaph...	OMIM:618774
Prader-Willi Syndrome	Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polyphagia, Primary a...	OMIM:176270
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Noonan Syndrome 14	Aortic regurgitation, Lateral ventricle dilatation, Hypertrophic cardiomyopathy, Prominent nasal ...	OMIM:619745
Acalvaria	Abnormality of neuronal migration, Spina bifida, Hydrocephalus, Omphalocele, Holoprosencephaly	ORPHA:945
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Lissencephaly, Optic atrophy, Holoprosencephaly, Dilated cardiomyopathy, Retinal dysplasia, Polym...	OMIM:253800
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Bilateral cryptorchidism, Decreased response to growth hormone stimulation tes...	ORPHA:485405
Hypotonia-Cystinuria Syndrome	Depressed nasal bridge, Failure to thrive, Decreased response to growth hormone stimulation test,...	OMIM:606407
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Inguinal hernia, Male infertility, Decreased cirrculating antimullerian...	OMIM:261550
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Gabriele-De Vries Syndrome	Broad nasal tip, Tip-toe gait, Lateral ventricle dilatation, Cryptorchidism, Distal arthrogryposi...	OMIM:617557
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Pontocerebellar Hypoplasia, Type 9	Optic atrophy, Ventriculomegaly, Irritability, Dysphagia, Delayed early-childhood social mileston...	OMIM:615809
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum...	ORPHA:380
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Ventriculomegaly, Dysmetria, Loss of ambulation, Spastic gait	OMIM:616680
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Broad nasal tip, Failure to thrive, Overgrowth, Retinal detachment, Hydrocepha...	OMIM:620157
Congenital Disorder Of Glycosylation, Type Iiy	Ventriculomegaly, Agenesis of corpus callosum	OMIM:620200
Neurocardiofaciodigital Syndrome	Lateral ventricle dilatation, Failure to thrive, Dilated fourth ventricle, Patent ductus arterios...	OMIM:619869
Pierpont Syndrome	Abnormal cortical gyration, Ventriculomegaly, Cryptorchidism, Wide nasal ridge, Abnormal subcutan...	ORPHA:487825
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Puberty and gonadal disorders, Obesity, Ataxia, Unsteady gait, Retinal dystro...	ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 66	Difficulty walking, Colpocephaly, Spastic gait	ORPHA:401815
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Ventriculomegaly, Depression, Failure to thrive, Ant...	ORPHA:96147
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, P...	OMIM:612702
Christianson Syndrome	Ventriculomegaly, Abnormality of the nose, Inappropriate laughter, Gait ataxia, Motor stereotypy,...	ORPHA:85278
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Ventriculomegaly	ORPHA:1261
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Refsum Disease	Anosmia, Cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Ataxia, Heart block	ORPHA:773
17P13.3 Microduplication Syndrome	Ventriculomegaly, Tall stature, Inguinal hernia, Hypoplasia of penis, Short nose, Wide nose	ORPHA:217385
Chung-Jansen Syndrome	Obesity, Anteverted nares, Short nose	OMIM:617991
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hypogonad...	ORPHA:500055
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, Hypoplastic optic ...	OMIM:617669
Pediatric-Onset Graves Disease	Graves disease, Sinus tachycardia, Polydipsia, Congestive heart failure, Goiter, Puberty and gona...	ORPHA:525731
Dworschak-Punetha Neurodevelopmental Syndrome	Depressed nasal bridge, Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus cal...	OMIM:619955
Joubert Syndrome With Ocular Defect	Retinal coloboma, Polymicrogyria, Anteverted nares, Prominent nasal bridge, Encephalocele, Agenes...	ORPHA:220493
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Broad nasal tip, Failure to thrive, Decreased response to growth hormone stimul...	OMIM:609757
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Hydrocephalus, Patent ductus arte...	ORPHA:1516
Coach Syndrome 2	Hypertension, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum	OMIM:619111
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Congestive heart failure, Inability to walk, Hypertrophic cardiomyopathy, Tricuspi...	ORPHA:505248
Congenital Disorder Of Deglycosylation 2	Ventriculomegaly, Retinal coloboma, Polymicrogyria, Short columella, Reduced social reciprocity, ...	OMIM:619775
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Hypogonadism, Decreased testicular siz...	OMIM:300882
Choreoacanthocytosis	Lateral ventricle dilatation, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss, ...	ORPHA:2388
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Ventriculomegaly, Depression, Inguinal hernia, Cryptorchidism, Aggressiv...	ORPHA:485350
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:85179
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Obesity, Prominent nose, Anteverted nares	ORPHA:2180
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Bulbous nose, Anteverted nares, Ga...	OMIM:619312
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypop...	ORPHA:449285
Variegate Porphyria	Tachycardia	OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Microhydranencephaly	Ventriculomegaly, Hydranencephaly, Prominent nasal bridge, Multiple joint contractures, Self-muti...	OMIM:605013
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Polymicrogyria, Bulbous nose, Anteverted nares, Periventricular heterotopia, Mi...	OMIM:616212
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Polymicrogyria, Mitral regurgitation, Abnormal nasal morphology, Hydrocep...	ORPHA:83473
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Precocious puberty, Ventriculomegaly, Self-injurious behavior, Hypospadias,...	ORPHA:254346
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Delayed puberty, Hyposmia	OMIM:615271
Alexander Disease Type I	Failure to thrive, Cachexia, Hydrocephalus, Ataxia, Dysphagia, Abnormal thalamic MRI signal inten...	ORPHA:363717
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Ventriculomegaly, Lissencephaly, Failure to thrive, Cho...	OMIM:243310
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly, Obesity	ORPHA:521390
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Ventriculomegaly, Unilateral wrist flexion contracture, Knee flexion contracture, Arthrogryposis ...	OMIM:616531
Clark-Baraitser syndrome	Tall stature, Obesity, Broad nasal tip, Anteverted nares	OMIM:300602
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Dilated cardiomyopathy, Gait ataxia, Irritability, Aggressive behavior, Letharg...	OMIM:618321
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris...	ORPHA:2235
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic atrophy, Optic nerve compression, Lateral ventricle dilatation	OMIM:612301
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Ventriculomegaly, Small for gestational age, Episodic ataxia,...	OMIM:312170
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Smith-Magenis Syndrome	Wide nasal bridge, Abnormal nerve conduction velocity, Ventriculomegaly, Head-banging, Abnormalit...	OMIM:182290
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Anteverted nares, Polymicrogyria	OMIM:618731
Mehmo Syndrome	External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m...	ORPHA:85282
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Increased body we...	ORPHA:263455
Chromosome 19P13.13 Deletion Syndrome	Self-injurious behavior, Optic atrophy, Ventriculomegaly, Overgrowth, Optic nerve hypoplasia	OMIM:613638
49,Xxxyy Syndrome	Wide nasal bridge, Ventriculomegaly, Recurrent upper respiratory tract infections, Male hypogonad...	ORPHA:261534
Mmep Syndrome	Microphthalmia	ORPHA:3434
Retinitis Pigmentosa	Optic atrophy, Obesity, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation...	ORPHA:791
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Umbilical hernia, Tall stature, Gait disturbance, Hydrocephalus, Disproport...	ORPHA:2181
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilation...	ORPHA:163681
White-Sutton Syndrome	Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Failure to thrive, Depressed na...	OMIM:616364
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Sjogren-Larsson Syndrome	Macular degeneration, Retinal thinning, Macular dots, Retinal pigment epithelial atrophy, Macular...	OMIM:270200
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Hyp...	ORPHA:228402
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Finger joint contracture, Abnormality of peripheral nerve conduction, Dysmetria...	ORPHA:48431
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Hydrocephalus, Omphalocele	OMIM:258320
Alg6-Cdg	Failure to thrive, Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Kallmann Syndrome With Spastic Paraplegia	Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidis...	OMIM:308750
48,Xxxy Syndrome	Depressed nasal ridge, Small scrotum, Pulmonary embolism, Abnormal dental enamel morphology, Hypo...	ORPHA:96263
49,Xyyyy Syndrome	Ventriculomegaly, Recurrent upper respiratory tract infections, Male hypogonadism, Abnormality of...	ORPHA:99330
Optic Pathway Glioma	Precocious puberty, Optic atrophy, Papilledema, Hydrocephalus	ORPHA:2086
Macdermot-Winter Syndrome	Ventriculomegaly, Hypoplastic male external genitalia, Camptodactyly of finger	OMIM:247990
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Abnormal CSF pyruvate family amino ac...	ORPHA:255182
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Joint contracture of the hand, Ventriculomegaly, Umbilical hernia, Inguinal he...	OMIM:175700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Gait a...	OMIM:616878
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy, Anosmia, Hyposmia	OMIM:144755
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity, Convex nasal ridge, Anteverted nares	ORPHA:1035
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Tricuspid regurgitation, Ambiguous genitalia, Micropenis, Pachygyri...	OMIM:263520
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me...	ORPHA:67042
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pigmentary retinopathy, Failure to thrive, Lethargy, Pulmonary arterial hypertension...	OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Small pituitary gland, Lateral ventr...	OMIM:619479
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Ventriculomegaly, Tip-toe gait, Elbow contracture, Difficulty walking, Achilles tendon contractur...	OMIM:606612
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Tall stature, Hydrocephalus	OMIM:236660
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia, Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism,...	OMIM:614837
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab...	ORPHA:90064
3C Syndrome	Aortic valve stenosis, Optic atrophy, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge...	ORPHA:7
Fg Syndrome Type 1	Small pituitary gland, Choanal atresia, Broad-based gait, Ventriculomegaly, Umbilical hernia, Sle...	ORPHA:93932
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Obesity, Ster...	OMIM:600430
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Rabin-Pappas Syndrome	Wide nasal bridge, Broad nasal tip, Failure to thrive in infancy, Obesity, Overgrowth, Retinal de...	OMIM:620155
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Obesity, Rod-cone dystrophy	OMIM:605231
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Optic atrophy, Choanal atresia, Myelomeningocele, Anteverted nares, Hydro...	ORPHA:1914
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Increased CSF protein concentration, Ventriculomegaly, Decreased motor nerve c...	OMIM:218000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hydranencephaly, Polymicrogyria, Akinesia, Agenesis of corpus callosum, Hydroce...	OMIM:225790
Non-Acquired Isolated Growth Hormone Deficiency	Depressed nasal bridge, Abdominal obesity	ORPHA:631
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Depressed nasal bridge, Obesity, Anteverted nares, Truncal obesity, Small for gestational age, Wi...	ORPHA:96184
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Depression, Akinesia, Low frustration tolerance, Agitation, Orthostatic hypotensi...	ORPHA:411602
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased s...	OMIM:614841
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Prominent nose, Convex nasal ridge, Low hanging columella	OMIM:610543
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Obesity, Rod-cone dystrophy	OMIM:616562
Congenital-Onset Steinert Myotonic Dystrophy	Ventriculomegaly, Bundle branch block, Obesity, Decreased body weight, First degree atrioventricu...	ORPHA:589821
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Inability to walk, Ventriculomegaly, Joint contracture	OMIM:617977
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing horm...	OMIM:616030
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ventriculomegaly, Ataxia	ORPHA:1188
Developmental And Epileptic Encephalopathy 70	Ventriculomegaly, Flexion contracture, Cryptorchidism	OMIM:618298
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Anteverted nares, Periventricular heterotopia, Mitral r...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Agitation, Aggressive behavior, Hydrocephalus, Hyperact...	OMIM:300558
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Pseudohypoparathyroidism Type 1C	Depressed nasal bridge, Pituitary resistance to thyroid hormone, Depression, Elevated circulating...	ORPHA:79444
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis	OMIM:301900
Caribbean Parkinsonism	Ventriculomegaly, Autonomic bladder dysfunction, Progressive gait ataxia, Orthostatic hypotension...	ORPHA:97355
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Pigmentary retinopathy, Clitoral hypertrophy, Congenital diaphrag...	OMIM:309801
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Pseudopseudohypoparathyroidism	Depressed nasal bridge, Obesity	OMIM:612463
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Dysmetria, Ataxia	OMIM:203450
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Ventriculomegaly, Congenital contracture, Occipital encephalocele, Polymicrogyria,...	OMIM:236670
Muscular Dystrophy, Congenital, Lmna-Related	Failure to thrive, Elbow contracture, Paroxysmal atrial fibrillation, Hamstring contractures, Hip...	OMIM:613205
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Anteverted nares, Motor stereotypy, Short nose, Optic nerve hypoplasia	ORPHA:228384
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Inability to walk, Periventricular heterotopia, Truncal ataxia, Unsteady gait, ...	OMIM:618273
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Wide nose	ORPHA:254531
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Brain Small Vessel Disease 2	Polymicrogyria, Ventriculomegaly, Intracranial hemorrhage, Subcortical heterotopia	OMIM:614483
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased CSF lactate, Ventriculomegaly, Pigmentary retinopathy, Pulmonary arterial hypertension	OMIM:619059
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Rod-cone dystrophy	OMIM:615633
Megalencephaly	Wide nasal bridge, Truncal obesity	ORPHA:2477
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Chromosome Xq27.3-Q28 Duplication Syndrome	Bulbous nose, Small for gestational age, Abdominal obesity	OMIM:300869
Lissencephaly, X-Linked, 2	Wide nasal bridge, Ventriculomegaly, Decreased testicular size, Prominent nasal bridge, Agenesis ...	OMIM:300215
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Hyperinsulinemia, Lipodystrophy, Prolonged QT interval, Bradycardia, Atrial fi...	OMIM:613327
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Anophthalmia, Truncus art...	OMIM:601186
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Dilated cardiomyopathy, Ventriculomegaly, Broad nasal tip, Prominent nasal brid...	OMIM:616541
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Bone spicule pigmentat...	OMIM:617547
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Ventricu...	ORPHA:98855
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Muscle-Eye-Brain Disease	Optic atrophy, Gait disturbance, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Ventriculomegaly, Dysphagia, Prominent nose	OMIM:619527
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Failure to thrive, Hypogonadism, Inguinal hernia, Congen...	ORPHA:96170
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation,...	OMIM:619383
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Congenital contracture, Polymicrogyria, Agenesis of corpus callosum, Colpocepha...	OMIM:620156
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Obesity	OMIM:618821
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Bifid nose, Hyposmia	OMIM:614838
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
White Sponge Nevus 2	Edema	OMIM:615785
Ciliary Dyskinesia, Primary, 1	Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis, Communicating hydrocephalus, Absent...	OMIM:244400
Kleefstra Syndrome	Self-injurious behavior, Hypospadias, Ventriculomegaly, Anteverted nares, Obesity, Cryptorchidism...	ORPHA:261494
Amish Lethal Microcephaly	Optic atrophy, Ventriculomegaly, Irritability, Agenesis of corpus callosum, Spina bifida, Lissenc...	ORPHA:99742
Pseudohypoparathyroidism Type 1A	Depressed nasal bridge, Pituitary resistance to thyroid hormone, Depression, Elevated circulating...	ORPHA:79443
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Precocious puberty, Ventriculomegaly, Broad-based gait, Bulbous nose, Antevert...	OMIM:300958
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Alexander Disease	Precocious puberty, Self-injurious behavior, Hypotension, Depression, Failure to thrive, Emotiona...	ORPHA:58
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Lateral ventricle dilatation, Elbow flexion contracture, Birth length gre...	OMIM:300868
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Decreased nerve conduction velocity, Cachexia, Ataxia, Abnormality of visual ev...	ORPHA:1933
Optic Atrophy 11	Optic atrophy, Ventriculomegaly, Cherry red spot of the macula, Stereotypical body rocking, Facia...	OMIM:617302
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Hypertro...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Hypertro...	ORPHA:98853
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Obesity, Anteverted nares, Short nose	OMIM:614613
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Depressed nasal bridge, Bulbous nose, Obesity, Prominent nose, Underdeveloped nasolabial fold, Pr...	OMIM:620191
Joubert Syndrome With Oculorenal Defect	Chorioretinal coloboma, Anteverted nares, Prominent nasal bridge, Encephalocele, Abnormality of n...	ORPHA:2318
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Wide nasal bridge, Ventriculomegaly, Fixated interests, Failure to thrive, Unila...	OMIM:617788
6Q25 Microdeletion Syndrome	Wide nasal bridge, Ventriculomegaly, Failure to thrive, Camptodactyly of finger, External genital...	ORPHA:251056
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Anteverted nares, Retinal degeneration	OMIM:616211
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Orofaciodigital Syndrome Xvi	Depressed nasal bridge, Ventriculomegaly, Inability to walk, Retinopathy, Inguinal hernia, Ataxia...	OMIM:617563
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly, Restrictive cardiomyopathy, Sudden cardiac death	OMIM:115210
Joubert Syndrome With Renal Defect	Polymicrogyria, Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis of corpus callo...	ORPHA:220497
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Cryptorchidism, Agenesis of corpus callosum, Telan...	ORPHA:1606
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Pigmentary retinopathy, Congestive h...	OMIM:253250
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Failure to thrive, Inability to walk, Prominent nasal bridge...	OMIM:619556
Congenital Sialidosis Type 2	Optic atrophy, Umbilical hernia, Abnormal EKG, Cherry red spot of the macula, Inguinal hernia, Dy...	ORPHA:93400
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Mi...	OMIM:614880
6P22 Microdeletion Syndrome	Hernia, Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Pigmentary retinopathy, Umbilical hernia, Agenesis of corpus callosum, Te...	OMIM:612582
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Abnormality of the s...	OMIM:616113
Kufor-Rakeb Syndrome	Anosmia, Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Bradykinesia, Dysphagia, Hyposmia	OMIM:606693
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose, Facial palsy	ORPHA:2316
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Obesity, Lethargy, Arrhythmia, Ventricular tachyc...	ORPHA:26793
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Broad nasal tip, Hypogonadism, Bulbous nose, External genital hypoplasia, Decreased testicular si...	ORPHA:3041
Scheie Syndrome	Depressed nasal bridge, Wide nose, Retinal degeneration	OMIM:607016
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callos...	ORPHA:2524
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Tetanus	Autonomic bladder dysfunction, Dysphagia, Abnormal autonomic nervous system physiology, Bradycard...	ORPHA:3299
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity, Loss of ambulation, Ataxia, Premature ovarian insufficiency, Unsteady gait	OMIM:618124
Joubert Syndrome 14	Optic atrophy, Prominent nasal bridge, Encephalocele, Irritability, Hydrocephalus, Dandy-Walker m...	OMIM:614424
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Macular dystrophy, Hyper...	ORPHA:251004
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Tip-toe gait, Elbow flexion contracture, Hypertrophic cardiomyopathy, Ven...	ORPHA:98863
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Ventriculomegaly, Cardiomyopathy, Dysmetria, Aggressive behavior, Rod-cone dystrop...	OMIM:617710
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Truncal obesity	OMIM:613192
Houge-Janssens Syndrome 2	Ventriculomegaly, Inability to walk, Anteverted nares, Gait ataxia, Agenesis of corpus callosum, ...	OMIM:616362
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Choanal atresia, Hydrocephalus, Convex nasal ridge	ORPHA:93262
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Low frustration tolera...	OMIM:612469
15Q24 Microdeletion Syndrome	Wide nasal base, Depressed nasal bridge, Failure to thrive, Microphallus, Decreased response to g...	ORPHA:94065
Myotonic Dystrophy 2	Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricular contraction, Elevate...	OMIM:602668
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Failure to thrive, Enamel hypoplasia...	OMIM:614576
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Agenesis o...	OMIM:615433
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Ventriculomegaly, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Hyper...	OMIM:617281
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Depressed nasal bridge, Ventriculomegaly, Retinal coloboma, Umbilical hernia, Bulbous nose, Obesi...	OMIM:620654
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Umbilical hernia, Tricuspid regurgitation, Tall stature, Anteverted nares, Shor...	OMIM:615879
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
8P11.2 Deletion Syndrome	Depressed nasal bridge, Anosmia, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypo...	ORPHA:251066
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Failure to thrive, Dysmetria	OMIM:618251
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Ventriculomegaly, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Left ventricular...	ORPHA:206559
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Hyposmia	OMIM:244200
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Neurocutaneous Melanocytosis	Ventriculomegaly, Chorioretinal coloboma, Abnormality of retinal pigmentation, Abnormality of neu...	ORPHA:2481
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Bulbous nose, Wide nasal ridge, Ataxia, Optic disc pallor	OMIM:612936
Trisomy 18P	Wide nasal bridge, Underdeveloped nasal alae, Bilateral cryptorchidism, Polyphagia, Attention def...	ORPHA:1715
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia, Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gona...	OMIM:618841
Laron Syndrome	Depressed nasal ridge, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Truncal o...	ORPHA:633
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Reduced social rec...	ORPHA:261197
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sense of smell, Morn...	ORPHA:91412
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Chorioretinal coloboma, Bulbous nose, ...	ORPHA:284169
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Hyperautofluorescent macular lesion, Gait imbalance, Att...	OMIM:209900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Optic atrophy, Pigmentary retinopathy, Clitoral hypertrophy, Failure to thr...	OMIM:614866
Edinburgh Malformation Syndrome	Choanal atresia, Failure to thrive, Anteverted nares, Abnormality of neuronal migration, Hydrocep...	ORPHA:1895
Temtamy Syndrome	Aortic regurgitation, Ventriculomegaly, Chorioretinal coloboma, Self-mutilation, Agenesis of corp...	OMIM:218340
Oxoglutarate Dehydrogenase Deficiency	Ventriculomegaly, Falls, Gait ataxia, Dysmetria, Unsteady gait	OMIM:203740
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly	OMIM:182940
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Cryptorchidism, Hip contracture, Agenesis of corpus callosum, Gray ...	OMIM:210710
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus, Convex nasal ridge	OMIM:610333
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor...	OMIM:614858
Trisomy 1Q	Anophthalmia, Ventricular septal defect	ORPHA:261344
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Broad-based gait, Ventriculomegaly, Difficulty walking, Gait ataxia, Motor stereotypy	OMIM:617807
Pseudohypoparathyroidism, Type Ic	Depressed nasal bridge, Elevated circulating parathyroid hormone level, Elevated circulating thyr...	OMIM:612462
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Anteverted nares, ...	ORPHA:2969
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Polymicrogyria, Mitral regurgitation, Knee flexion contracture, Overgrowth, Hyd...	OMIM:603387
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias, Patent...	OMIM:218350
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Ventriculomegaly, Hypertrophic cardiomyopathy, Facial diplegia, Dysmetria, Aggressive behavior, S...	OMIM:619121
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Ventriculomegaly, Inguinal hernia, Failure to thrive, Agenesis of corpus callosum	OMIM:618603
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Broad-based gait, Ventriculomegaly, Dysmetria, Truncal ataxia, Frontal polymicrogyria, Perisylvia...	OMIM:606854
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Small for gestational age, Hydrocephalus	OMIM:618302
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Cryptorchidism, Arrhythmia, Micropenis, Ata...	OMIM:216400
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Retinopathy	ORPHA:816
Microtriplication 11Q24.1	Obesity, Wide nose	ORPHA:289522
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydro...	ORPHA:93274
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Ventriculomegaly, Prominent nasal bridge, Periventricular heterotopia, At...	OMIM:618974
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Ventriculomegaly, Failure to thrive, Facial telangiectasia, Irritability, Flexion ...	OMIM:615851
Papillary Tumor Of The Pineal Region	Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia	ORPHA:251915
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Abnormality of the sense of smell, Camptodactyly of finger	ORPHA:3201
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Amoebiasis Due To Free-Living Amoebae	Increased CSF protein concentration, Restlessness, Irritability, Abnormal hypothalamus morphology...	ORPHA:68
Orofaciodigital Syndrome Xv	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum	OMIM:617127
Scalp-Ear-Nipple Syndrome	Depressed nasal bridge, Lateral ventricle dilatation, Congestive heart failure, Anteverted nares,...	OMIM:181270
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Anteverted nares, Wide nose	OMIM:619056
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Abs...	OMIM:300424
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Ventriculomegaly, Failure to thrive, Elbow flexion contracture, Pr...	OMIM:214150
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Retinal degeneration	ORPHA:442835
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Ventriculomegaly, Umbilical hernia, Polymicrogyria, Anteverted nares, Prominent nasa...	ORPHA:500159
X-Linked Lissencephaly With Abnormal Genitalia	Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Aganglionic megacolon, Ambiguous g...	ORPHA:452
Laurence-Moon Syndrome	Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Ataxia, ...	ORPHA:2377
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hypogonadism, Short nasal septum, Short nose	OMIM:302950
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Bardet-Biedl Syndrome	Hydrometrocolpos, Type II diabetes mellitus, Emotional lability, Cryptorchidism, Cone/cone-rod dy...	ORPHA:110
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Ventriculomegaly, Failure to thrive, Tricuspid regurgitation, Corneal sca...	OMIM:618460
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Adnp Syndrome	Depressed nasal bridge, Ventriculomegaly, Recurrent upper respiratory tract infections, Abnormal ...	ORPHA:404448
Nephronophthisis 18	Retinitis, Hypertension, Hydrocephalus	OMIM:615862
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Abnormal thalamus morphology, Dysgyria, Attention deficit hyperactivity disorde...	ORPHA:467166
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Warburg Micro Syndrome 3	Optic atrophy, Ventriculomegaly, Small scrotum, Polymicrogyria, Inability to walk, Decreased test...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Bulbous nose, Anteverted nares...	OMIM:617268
L1 Syndrome	Depression, Aganglionic megacolon, Gait disturbance, Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Ventriculomegaly, Increased CSF lactate, Agenesis of corpus callosum, Partial agen...	ORPHA:500144
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Patent ductus ar...	ORPHA:860
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Optic atrophy, Progressive ventriculomegaly, Ventriculomegaly, Depressed nasal...	ORPHA:500150
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Obesity, Palpitations, Decreased female...	ORPHA:91355
Leukodystrophy, Hypomyelinating, 24	Ventriculomegaly, Flexion contracture, Hypothyroidism, Decreased motor nerve conduction velocity	OMIM:619851
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Broad nasal tip, Cryptorchidism, Ambiguous ge...	OMIM:614969
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Ventriculomegaly, Bulbous nose, Anteverted nares, Unilateral facial palsy, Rod-con...	OMIM:618547
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty, Ventriculomegaly, Broad-based gait, Aggressive behavior, Hyperactivity	ORPHA:457260
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Tall stature, Obesity, Bulbous nose, Short nose	OMIM:618430
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Crouzon Syndrome	Optic atrophy, Choanal atresia, Hydrocephalus, Convex nasal ridge	ORPHA:207
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ...	OMIM:609734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Chorioretinal coloboma, Optic disc coloboma, Anteverted nares, Prominent...	ORPHA:1454
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Undetectable visual evoked potentials, Ventriculomegaly, Hypertrophic cardiomyopathy, Tricuspid r...	OMIM:619051
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Abnormal auditory evoked potentials, Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Joubert Syndrome 37	Wide nasal bridge, Obesity, Anteverted nares, Wide nose	OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Bulbous nose, Anteverted nares, Agenesis of corpus callosum, Aggressive behavi...	OMIM:619320
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Infantile Sialic Acid Storage Disease	Anteverted nares, Hydrocephalus, Failure to thrive, Congestive heart failure	OMIM:269920
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Lateral ventricle dilatation, Vesicovaginal fistula, Enamel hypoplasia, Rod-co...	OMIM:300896
Xfe Progeroid Syndrome	Optic atrophy, Ventriculomegaly, Failure to thrive, Corneal scarring, Attenuation of retinal bloo...	OMIM:610965
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c...	OMIM:613239
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Depression, Pituitary adenoma, Increased circulating cortisol level, Neur...	ORPHA:189427
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Depressed nasal ridge, Bulbous nose, Prominent nose, Short columella, In...	OMIM:156200
Rhombencephalosynapsis	Ventriculomegaly, Abnormality of the uterus, Fusion of the left and right thalami, Anteverted nar...	ORPHA:59315
Mpdu1-Cdg	Optic atrophy, Ventriculomegaly, Undetectable visual evoked potentials, Decreased response to gro...	ORPHA:79323
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Anteverted nares...	OMIM:612938
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Agenesis of corpus callosum, Decreased bod...	OMIM:609053
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Hypertensive retinop...	OMIM:171420
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Rasmussen Subacute Encephalitis	Increased CSF protein concentration, Ventriculomegaly, Inability to walk, Emotional lability, Irr...	ORPHA:1929
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive	ORPHA:163690
Alg8-Cdg	Optic atrophy, Ventriculomegaly, Failure to thrive, Abnormality of subcutaneous fat tissue, Retin...	ORPHA:79325
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Nasal congestion, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum	ORPHA:168486
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Myopathy, Centronuclear, X-Linked	Birth length greater than 97th percentile, Cryptorchidism, Hydrocephalus, Flexion contracture, Fa...	OMIM:310400
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Hypogonadism, Anosmia, Absence of pubertal development	OMIM:615267
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology	ORPHA:2233
Fumarase Deficiency	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Failure to thrive, Mitochondrial swellin...	OMIM:606812
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Optic atrophy, Increased CSF lactate, Obesity, Inguinal hernia, Shortened PR interval, Wo...	OMIM:614947
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Desmosterolosis	Lissencephaly, Depressed nasal bridge, Ventriculomegaly, Abnormal cortical gyration, Abnormality ...	ORPHA:35107
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Umbilical hernia, Tall stature, Hyperinsulinemia, Labial hy...	OMIM:608594
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Irritability, Premature ventricular contract...	OMIM:212138
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Obesity, Large for gestational age, Overgrowth, Short nose	OMIM:605309
Charge Syndrome	Chorioretinal coloboma, Abnormal cranial nerve morphology, Cryptorchidism, Aqueductal stenosis, H...	ORPHA:138
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Anteverted nares, Retinal degeneration, Hy...	OMIM:272200
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Hypothalamic hamartoma, Hydrocephalus, Micropeni...	OMIM:241800
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ...	OMIM:300942
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr...	ORPHA:263297
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Umbilical hernia, Hypertrophic cardiomyopathy, Tall stature, Hyperinsulinem...	OMIM:269700
Abcd Syndrome	Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Large for gestational age, N...	OMIM:600501
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Cofs Syndrome	Microphthalmia	ORPHA:1466
Cerebral Visual Impairment	Optic atrophy, Ischemic stroke, Attention deficit hyperactivity disorder, Hydrocephalus, Retinopa...	ORPHA:447788
Primary Ciliary Dyskinesia	Nasal polyposis, Ventriculomegaly, Abnormal sperm motility, Female infertility, Nasal congestion,...	ORPHA:244
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Broad-based gait, Ventriculomegaly, Umbilical hernia, Prominent nose, Inguinal...	OMIM:618205
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, ...	ORPHA:500180
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Thanatophoric Dysplasia	Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Patent ductus a...	ORPHA:2655
Huntington Disease-Like 1	Ventriculomegaly, Depression, Gait ataxia, Dysmetria, Gait disturbance, Weight loss, Bradykinesia...	ORPHA:157941
Pseudohypoparathyroidism, Type Ia	Depressed nasal bridge, Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Ps...	OMIM:103580
Joubert Syndrome	Polymicrogyria, Anteverted nares, Prominent nasal bridge, Encephalocele, Abnormality of neuronal ...	ORPHA:475
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Hydrocephalus, Convex nasal rid...	ORPHA:85284
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Patchy atrophy of the retinal pigment epithelium, Broad columella, Rod...	ORPHA:436245
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz...	OMIM:614842
Developmental And Epileptic Encephalopathy 9	Attention deficit hyperactivity disorder, Aggressive behavior, Ventriculomegaly	OMIM:300088
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Hypopituitarism, Increased CSF lactate, ...	ORPHA:90065
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Abnormal dental enamel morphology, Inguinal hernia, Cry...	ORPHA:1812
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Leukoencephalopathy, Cystic, Without Megalencephaly	Ventriculomegaly, Athetosis, Ataxia	OMIM:612951
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary...	OMIM:615300
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Optic atrophy, Ventriculomegaly, Wide nasal bridge, Failure to thrive, Camp...	ORPHA:261349
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Ventriculomegaly, Bruxism, Anteverted nares, Decreased body weight, Aggressive...	OMIM:618342
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cryptorchidism, Micropenis, Simpl...	OMIM:619180
Timothy Syndrome	Depressed nasal bridge, Atrioventricular block, Pulmonary arterial hypertension, Ventricular tach...	OMIM:601005
Gm1-Gangliosidosis, Type Iii	Cherry red spot of the macula, Ventriculomegaly, Ataxia	OMIM:230650
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Ventriculomegaly, Cryptorchidism	OMIM:613730
Baraitser-Winter Syndrome 2	Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum	OMIM:614583
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Hypogonadism, Anosmia, Delayed puberty	OMIM:615270
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Joint contracture of the hand, Recur...	OMIM:612513
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Campomelic Dysplasia	Depressed nasal bridge, Ventriculomegaly, Abnormality of the sense of smell, Male pseudohermaphro...	ORPHA:140
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Periventricular heterotopia, Decreased body weight, Agenesis of corpus callosum...	ORPHA:255138
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:612370
3-Hydroxyisobutyric Aciduria	Hypogonadotropic hypogonadism, Ventriculomegaly	ORPHA:939
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Partial agenesis of the corpus callosum, Ventriculomegaly, Retinal neovascularization	OMIM:619074
Peho Syndrome	Optic atrophy, Ventriculomegaly, Anteverted nares, Hydrocephalus, Flexion contracture, Arthrogryp...	ORPHA:2836
Carpenter Syndrome 1	Precocious puberty, Optic atrophy, Joint contracture of the hand, Depressed nasal bridge, Umbilic...	OMIM:201000
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Depressed nasal ridge, Obesity, Anteverted nares	ORPHA:464288
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Ventriculomegaly, Choanal atresia, Hypospadias, Chorioret...	ORPHA:494344
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Failure to thr...	OMIM:619179
Emanuel Syndrome	Aortic valve stenosis, Ventriculomegaly, Failure to thrive, Inguinal hernia, Congenital diaphragm...	OMIM:609029
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Ventriculomegaly, Choanal atresia, Depressed nasal bridge, Hypospadias, Bifid scro...	OMIM:123790
Monosomy 18Q	Aortic valve stenosis, Depressed nasal bridge, Secondary growth hormone deficiency, Failure to th...	ORPHA:1600
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Unsteady gait, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Ventriculomegaly, Irritability	ORPHA:348
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Depression, Polydipsia, Anorexia, Cachexia, Hypothyroid...	ORPHA:3452
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland...	ORPHA:2234
Classic Galactosemia	Depression, Gait imbalance, Cryptorchidism, Primary amenorrhea, Lethargy, Gait disturbance, Decre...	ORPHA:79239
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Clitoral hypertrophy, Congenital adrenal hyperplasia, Inguinal hernia, Increase...	ORPHA:96181
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Increased adipose tissue aroun...	ORPHA:280365
13Q12.3 Microdeletion Syndrome	Obesity, Low insertion of columella, Failure to thrive, Underdeveloped nasal alae	ORPHA:412035
Galloway-Mowat Syndrome 5	Pachygyria, Ventriculomegaly, Ataxia	OMIM:617731
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia, Failure to thrive, Decreased body weight	OMIM:620085
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Depressed nasal bridge, Inguinal hernia, Agenesis of corpus callosum, Atte...	ORPHA:459061
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor...	ORPHA:251937
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidism, Hydrocephalus, Short nose, Pulmoni...	ORPHA:2701
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Pyruvate Dehydrogenase Deficiency	Wide nasal bridge, Ventriculomegaly, Lethargy, Multiple lipomas, Gait disturbance, Ataxia, Choreo...	ORPHA:765
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cryptorchidism, Agenesis of corpus callosum, Severe failure to thrive, Optic disc pallor, Motor s...	ORPHA:468631
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Ventriculomegaly, Broad nasal tip, Motor stereotypy	OMIM:615637
Alkuraya-Kucinskas Syndrome	Lissencephaly, Depressed nasal bridge, Ventriculomegaly, Small scrotum, Anteverted nares, Gray ma...	OMIM:617822
Baralle-Macken Syndrome	Obesity	OMIM:619255
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Arachnoid Cyst	Enlarged fossa interpeduncularis, Depression, Cranial nerve compression, Inability to walk, Encep...	ORPHA:2356
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Failure to thrive	ORPHA:319199
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Ventriculomegaly, Athetosis, Dysphagia	OMIM:617493
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Wide nasal bridge, Anosmia, Frontalis muscle weakness	OMIM:210745
Serotonin Syndrome	Hypotension, Abnormality of the autonomic nervous system, Irritability, Tachycardia, Restlessness...	ORPHA:43116
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Agenesis of...	ORPHA:226307
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary ameno...	OMIM:614839
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Kohlschutter-Tonz Syndrome	Ventriculomegaly, Amelogenesis imperfecta, Enamel hypoplasia, Ataxia	OMIM:226750
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated third ventricle, Failure to thrive, Dilated fourth ventricle, Simplifie...	OMIM:615574
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology	OMIM:605808
Hsd10 Disease, Infantile Type	Optic atrophy, Rod-cone dystrophy, Retinal degeneration	ORPHA:391428
Dpm1-Cdg	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Failure to thrive, External genital hypo...	ORPHA:79322
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Obesity, Agenesis of corpus callosum, Aggressive behavior, Overgrowth, Partial...	OMIM:620250
Andersen-Tawil Syndrome	Wide nasal bridge, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricula...	ORPHA:37553
Tenorio Syndrome	Ventriculomegaly, Anteverted nares, Emotional lability, Syncope, Gait disturbance, Hydrocephalus,...	OMIM:616260
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit...	OMIM:605373
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han...	ORPHA:411511
Pigmented Nodular Adrenocortical Disease, Primary, 1	Depression, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Diabetes mellitus	OMIM:222100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Chorioretinal coloboma, Emotional lability, Decreased body weight, Ataxia, Tics...	OMIM:619475
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Depressed nasal bridge, Optic atrophy, Broad nasal tip, Elevated circulat...	OMIM:101800
Momo Syndrome	Wide nasal bridge, Overgrowth, Obesity, Retinal coloboma	OMIM:157980
Semilobar Holoprosencephaly	Agenesis of corpus callosum, Abnormal heart rate variability, Dysphagia, Neural tube defect, Depr...	ORPHA:220386
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Optic atrophy, Choanal atresia, Depressed nasal bridge, Bifid scrotum, Umbilical hernia, Antevert...	ORPHA:1555
Alobar Holoprosencephaly	Agenesis of corpus callosum, Abnormal heart rate variability, Dysphagia, Neural tube defect, Depr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Agenesis of corpus callosum, Abnormal heart rate variability, Dysphagia, Neural tube defect, Depr...	ORPHA:93926
Lobar Holoprosencephaly	Agenesis of corpus callosum, Abnormal heart rate variability, Dysphagia, Neural tube defect, Depr...	ORPHA:93924
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Reduced social reciprocity	OMIM:617051
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Optic atrophy, Failure to thrive, Bulbous nose, Frequent temper tantrums...	OMIM:619512
Mucopolysaccharidosis Type 3	Loss of ambulation, Rod-cone dystrophy, Ataxia, Dysphagia, Thick nasal alae, Inguinal hernia, Hyp...	ORPHA:581
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Flexion contracture, Gait disturbance, Hydrocephalus, Small for gestational age	OMIM:613330
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Obesity, Type II diabetes mellitus, Inguinal hernia, Arrhythmia	ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 39	Ventriculomegaly, Type I diabetes mellitus, Congenital contracture, Increased CSF lactate, Sinus ...	OMIM:618397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Polymicrogyria, Hydrocephalus, Agyria, Retinal dystrophy	OMIM:616538
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Optic disc hypoplasia, Agenesis of corpus callosum	ORPHA:238769
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele, Optic disc pallor	OMIM:614195
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Joubert Syndrome 2	Depressed nasal bridge, Enlarged fossa interpeduncularis, Failure to thrive, Optic disc coloboma,...	OMIM:608091
Congenital Disorder Of Glycosylation, Type If	Optic atrophy, Ventriculomegaly, Failure to thrive, Ataxia, Flexion contracture	OMIM:609180
Porphyria Variegata	Scarring, Abnormal autonomic nervous system physiology, Tachycardia, Inappropriate antidiuretic h...	ORPHA:79473
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Decreased testicular size, External genital hypoplasia, Prominent nasal bridge,...	ORPHA:251028
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Prominent nasal bridge, Chorioretinal dystrophy, Childhood...	OMIM:216550
Tularemia	Tachycardia, Abnormal nasopharyngeal adenoid morphology	ORPHA:3392
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Bradykines...	OMIM:619725
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Thick nasal alae, Hypopituitarism, Midline ce...	ORPHA:1827
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Congestive heart failure	OMIM:300886
Linear Verrucous Nevus Syndrome	Ventriculomegaly, Retinopathy, Dandy-Walker malformation, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Lateral ventricle dilatation, Irritability	OMIM:618367
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Depressed nasal bridge, Obesity, Anteverted nares, Underdeveloped nasal alae	OMIM:608624
Gorlin Syndrome	Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi...	ORPHA:377
Multiple Sulfatase Deficiency	Optic atrophy, Depressed nasal bridge, Anteverted nares, Abnormality of retinal pigmentation, Abn...	ORPHA:585
Momo Syndrome	Wide nasal base, Chorioretinal coloboma, Tall stature, Obesity, Large for gestational age, Overgr...	ORPHA:2563
Desmosterolosis	Ventriculomegaly, Joint contracture of the hand, Hypoplastic nasal bridge, Failure to thrive, Amb...	OMIM:602398
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Ogden Syndrome	Flared nostrils, Torsade de pointes, Cryptorchidism, Premature ventricular contraction, Arrhythmi...	OMIM:300855
Graft Versus Host Disease	Failure to thrive, Fasciitis, Dupuytren contracture, Irritability, Lipodystrophy, Tachycardia	ORPHA:39812
Urban-Rogers-Meyer Syndrome	Obesity, Prominent nasal bridge	ORPHA:3409
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Ventriculomegaly, Joint contracture of the hand, Anteverted nares, Crypto...	OMIM:179613
Weiss-Kruszka Syndrome	Ventriculomegaly, Anteverted nares, Agenesis of corpus callosum, Colpocephaly, Short nose	OMIM:618619
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Red...	OMIM:620438
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Ventriculomegaly, Athetosis	OMIM:619922
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Familial Multiple Lipomatosis	Ventriculomegaly, Chorioretinitis, Overgrowth, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Broad columella, Underdeveloped nasal alae, Rod-cone dystrophy, Retinal degeneration	ORPHA:166035
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Elbow flexion contracture, Anteverted na...	OMIM:617301
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Euphoria, Prolonged QT interval, Addictive alcohol ...	ORPHA:31826
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Emotional lability, Obsessive-c...	ORPHA:273
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, Recurrent upper respiratory tract infections, Broad nasal tip, Truncal obesity	ORPHA:284180
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob...	OMIM:618363
Moebius Syndrome	Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Dysphagia, Facial palsy, Arthro...	ORPHA:570
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide nasal bridge, Ventriculomegaly, Periventricular nodular heterotopia, Prominent nasal bridge,...	OMIM:618659
Renal Nutcracker Syndrome	Varicocele, Infertility, Dysmenorrhea, Vulval varicose vein, Syncope, Weight loss, Orthostatic hy...	ORPHA:71273
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag...	ORPHA:293987
Joubert Syndrome 9	Ventriculomegaly, Encephalocele, Retinal dystrophy	OMIM:612285
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Inability to walk, Anteverted nares, Prominent nasal bridge, Obesity, Emotional lability, Ataxia,...	OMIM:618443
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Aplasia/Hypoplasia involving the nose, Cryptorchidism, Agenesis of corpus callosum...	ORPHA:3301
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventriculomegaly, Cryptorchidism, Abnormality of neuronal migration, Ambiguous genitalia, Hypopla...	ORPHA:2772
Autosomal Recessive Spastic Paraplegia Type 46	Broad-based gait, Reduced sperm motility, Difficulty walking, Infertility, Decreased testicular s...	ORPHA:320391
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Hypoplasia of...	ORPHA:1295
Smith-Kingsmore Syndrome	Depressed nasal bridge, Ventriculomegaly, Umbilical hernia, Large for gestational age, Cryptorchi...	OMIM:616638
Roifman-Chitayat Syndrome	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Umbilical hernia	OMIM:613328
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Ventriculomegaly, Difficulty walking, Inability to walk, Slender build, Diabet...	OMIM:611087
Moyamoya Disease	Telangiectasia, Ventriculomegaly	ORPHA:2573
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Decreased testicular size, Comm...	OMIM:615287
Microphthalmia With Linear Skin Defects Syndrome	Clitoral hypertrophy, Mitral regurgitation, Congenital diaphragmatic hernia, Agenesis of corpus c...	ORPHA:2556
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Anosmia, Abnormal autonomic nervous system physiology, Hyposmia	OMIM:243000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension	OMIM:614653
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Tall stature, Attention deficit hyperactivity disorder, Oligozoos...	ORPHA:3000
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Apert Syndrome	Optic atrophy, Ventriculomegaly, Choanal atresia, Depressed nasal bridge, Agenesis of corpus call...	ORPHA:87
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Wolff-Parkinson-White syndrome	ORPHA:261295
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Depressed nasal bridge, Ventriculomegaly, Ataxia	OMIM:611182
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Developmental And Epileptic Encephalopathy 1	Micropenis, Ventriculomegaly, Dysphagia, Choreoathetosis	OMIM:308350
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Lipodystrophy, Hypertension, Diabetes mellitus	OMIM:615980
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Monosomy 9Q22.3	Ventriculomegaly, Umbilical hernia, Tall stature, Large for gestational age, Retinopathy, Ovarian...	ORPHA:77301
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Ventriculomegaly, Failure to thrive, Lethargy, Gait disturbance, Hydrocephalus, At...	ORPHA:395
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Broad-based gait, Lateral ventricle dilatation, Cryptorchidism, Agenesis o...	ORPHA:261537
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Depressed nasal bridge, Ventriculomegaly, Polymicrogyria, Large for gestational age, Cryptorchidi...	ORPHA:457485
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Facial telangiectasia, Abnormal cardiovascu...	ORPHA:168569
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Polymicrogyria, Gonadal dysgenesis, Streak ovary, Cryptor...	OMIM:618820
Albers-Schönberg Osteopetrosis	Optic atrophy, Facial palsy, Hydrocephalus	ORPHA:53
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Ventriculomegaly, Failure to thrive, Ataxia	ORPHA:251009
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Optic disc hypoplasia, Hypogonadism, Hydrocephalus, Micropenis, Patent ductus a...	OMIM:300514
White-Sutton Syndrome	Self-injurious behavior, Optic atrophy, Depressed nasal bridge, Broad nasal tip, Obesity, Inguina...	ORPHA:468678
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Scarring, Intracranial hemorrhage	ORPHA:398189
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Obesity	ORPHA:254525
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Umbilical hernia, Inguinal hernia, Abnormality of retinal pigmentation,...	OMIM:309900
Rett Syndrome	Failure to thrive, Difficulty walking, Inability to walk, Increased serum leptin, Bruxism, Abnorm...	ORPHA:778
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Inability to walk, Anteverted nares, Hip contracture, Achilles tendon contractu...	OMIM:301041
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Ventriculomegaly, Retinal coloboma, Polymicrogyria, Occipital meningocele...	OMIM:616546
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Broad columella, Underdeveloped nasal alae, Hypoautofluorescent retinal lesion, Retinal degenerat...	OMIM:250410
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Optic atrophy, Broad-based gait, Ventriculomegaly, Depressed nasal bridge,...	OMIM:601808
Marfanoid-Progeroid-Lipodystrophy Syndrome	Generalized lipodystrophy, Narrow nose, Prominent nasal bridge, Absence of subcutaneous fat, Redu...	OMIM:616914
Spastic Paraplegia 51, Autosomal Recessive	Wide nasal bridge, Ventriculomegaly, Inability to walk, Bulbous nose, Excessive shyness, Long nos...	OMIM:613744
Hec Syndrome	Cardiomyopathy, Arrhythmia, Abnormal retinal vascular morphology, Vaginal hydrocele, Communicatin...	ORPHA:2119
Hurler Syndrome	Aortic regurgitation, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Cardiomyopathy,...	OMIM:607014
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum, Ventriculomegaly, Motor stereotypy, Short nose	ORPHA:85277
Crimean-Congo Hemorrhagic Fever	Emotional lability, Anorexia, Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bundle bran...	ORPHA:99827
Goldberg-Shprintzen Megacolon Syndrome	Wide nasal bridge, Ventriculomegaly, Bifid scrotum, Aganglionic megacolon, Pachygyria, Hypospadias	ORPHA:66629
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Hydrocephalus	OMIM:612247
Mucopolysaccharidosis Type 1	Optic atrophy, Depressed nasal bridge, Congestive heart failure, Hypertrophic cardiomyopathy, Thi...	ORPHA:579
Ogden Syndrome	Shuffling gait, Cardiogenic shock, Ventriculomegaly, Underdeveloped nasal alae, Enlarged naris, S...	ORPHA:276432
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventriculomegaly, Small f...	ORPHA:464311
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia, Delayed puberty	OMIM:274190
Pierpont Syndrome	Microphthalmia	OMIM:602342
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han...	ORPHA:98794
Aicardi Syndrome	Precocious puberty, Optic atrophy, Ventriculomegaly, Optic disc coloboma, Chorioretinal coloboma,...	ORPHA:50
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Familial Dysautonomia	Optic atrophy, Gait disturbance, Orthostatic hypotension, Ataxia, Tachycardia, Hypertension	ORPHA:1764
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Hurler Syndrome	Wide nasal bridge, Abnormal nerve conduction velocity, Depressed nasal bridge, Depression, Cardio...	ORPHA:93473
Degcags Syndrome	Ventriculomegaly, Failure to thrive, Oral-pharyngeal dysphagia, Prominent nose, Anteverted nares,...	OMIM:619488
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Partial anosmia, Dilated cardiomyopathy, Congestive heart failure, Bilatera...	ORPHA:2326
4Q21 Microdeletion Syndrome	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Agenesis of corpus callosum, M...	ORPHA:238750
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Anteverted nares, Inguinal hernia, Aplasia of the vagina, Agenesis of corpus ca...	ORPHA:457284
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia	ORPHA:1101
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Ventriculomegaly, Failure to thrive, Gait disturbance, Ataxia, Dysphagia, Patent d...	OMIM:230600
Wagr Syndrome	Obesity	ORPHA:893
Pelvis-Shoulder Dysplasia	Hydranencephaly, Retinal coloboma, Camptodactyly of finger, Ambiguous genitalia, Hydrocephalus, S...	ORPHA:2839
Metatropic Dysplasia	Depressed nasal bridge, Hydrocephalus, Camptodactyly of finger	ORPHA:2635
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Emot...	ORPHA:96253
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Ventriculomegaly, Multiple joint contractures, Abnormal autonomic nervous system p...	ORPHA:466934
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2182
Lead Poisoning	Depression, Decreased male libido, Reduced sperm motility, Abnormality of the menstrual cycle, De...	ORPHA:330015
Hereditary Coproporphyria	Tachycardia, Atypical scarring of skin	ORPHA:79273
Sturge-Weber Syndrome	Optic atrophy, Pulmonary embolism, Abnormal choroid morphology, Conjunctival telangiectasia, Atte...	ORPHA:3205
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
6Q Terminal Deletion Syndrome	Failure to thrive, Polymicrogyria, Obesity, Gait ataxia, Periventricular heterotopia, Dysmetria, ...	ORPHA:75857
Xq21 Microdeletion Syndrome	Optic atrophy, Reticular pigmentary degeneration, Decreased response to growth hormone stimulatio...	ORPHA:1435
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Depressed nasal bridge, Elbow flexion contracture, Inability to walk, Obesity, Hip...	OMIM:618493
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Micropenis, Abnormal ...	OMIM:301056
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Bulbous nose, Inguinal hernia, Agenesis of corpus callosum, Narrow nasal ridge...	OMIM:612940
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Ataxia, Retinal hemorrhage, Communic...	ORPHA:25
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Increased adipose tissue around the neck, Insulin-resistant diabetes...	ORPHA:435660
Paget Disease Of Bone 5, Juvenile-Onset	Failure to thrive, Angioid streaks of the fundus, Retinopathy, Retinal degeneration, Macular scar	OMIM:239000
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias, Ventriculomegaly, Abnormal nasal morphology, Truncal obesity	ORPHA:3224
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit...	ORPHA:66529
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Aganglionic megacolon, Polypha...	ORPHA:95427
Cerebrofacioarticular Syndrome	Wide nasal bridge, Self-injurious behavior, Ventriculomegaly, Hypospadias, Bilateral choanal atre...	ORPHA:314679
Marshall-Smith Syndrome	Tall stature, Cryptorchidism, Agenesis of corpus callosum, Decreased body weight, Premature ventr...	OMIM:602535
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia	OMIM:206900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Simplified gyral pattern	OMIM:615760
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Inability to walk, Cryptorchidism, Penile hypospadias, Narrow nasal ridge, Col...	OMIM:620083
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Polymicrogyria, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus,...	ORPHA:1647
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev...	OMIM:609152
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tall stature, Obesity	OMIM:618089
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ventriculomegaly, Failure to thrive, Cryptorchidism, Irritability, Truncal ataxia	ORPHA:88639
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Depression, Failure to thrive, Bulbous nose, Inguinal hernia, Cryptorchidism, ...	ORPHA:250989
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Hypogonadism, Decreased testicular size, Prominent nos...	ORPHA:85293
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Ventriculomegaly, Failure to thrive, Umbilical hernia, Polym...	OMIM:251290
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Hydrocephalus	OMIM:615599
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Broad-based gait, Lateral ventricle dilatation, Hyphema, Cryptorchidism, A...	ORPHA:261552
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Decreased response to growth hormone stimulation t...	OMIM:220210
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Inability to ...	OMIM:618004
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Small scrotum, Ventriculomegaly, Microphallus, Prominent nose, Gait ataxia, Low frustration toler...	OMIM:300486
Hennekam-Beemer Syndrome	Wide nasal bridge, Optic atrophy, Hypotension, Ventriculomegaly, Failure to thrive, Camptodactyly...	ORPHA:2135
Fibular Hemimelia	Abnormal heart morphology, Anophthalmia	ORPHA:93323
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypotension, Elevated circulating parathyroid hormone level, Abnormal den...	ORPHA:439822
15Q Overgrowth Syndrome	Wide nasal bridge, Disproportionate tall stature, Contracture of the proximal interphalangeal joi...	ORPHA:314585
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Inability to walk, Gait ataxia, E...	OMIM:619580
Alstrom Syndrome	Irregular menstruation, Pigmentary retinopathy, Dilated cardiomyopathy, Insulin-resistant diabete...	OMIM:203800
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Ventriculomegaly, Premature ovarian insufficiency, Endometriosis, Dysplastic corpus callosum, Mic...	ORPHA:363444
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Disproportionate tall stature	ORPHA:2172
Adrenocortical Carcinoma	Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur...	ORPHA:1501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Gitelman Syndrome	Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Palpitations, Salt craving, Ventri...	OMIM:263800
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Cranial nerve compression, Hydrocephalus, Chronic rhinitis due t...	OMIM:259710
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Depressed nasal bridge, Ventriculomegaly, Camptodactyly of finger, Antev...	ORPHA:261236
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Medulloblastoma	Abnormal cranial nerve morphology, Dysmetria, Irritability, Lethargy, Cerebellar hemorrhage, Hydr...	ORPHA:616
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Contractures of the large joints, Fa...	OMIM:617527
B4Galt1-Cdg	Wide nasal bridge, Hypothyroidism, Hydrocephalus, Small for gestational age, Dandy-Walker malform...	ORPHA:79332
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Bicornuate uterus, Congenital diaphragmatic hernia, Abnormality of the sense of...	ORPHA:958
Mody	Abnormal circulating insulin concentration, Insulin-resistant diabetes mellitus, Obesity, Large f...	ORPHA:552
Dural Sinus Malformation	Ataxia, Myelopathy, Subdural hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Papilled...	ORPHA:97339
Carpenter Syndrome	Umbilical hernia, Obesity, External genital hypoplasia, Cryptorchidism, Abnormal reproductive sys...	ORPHA:65759
Cockayne Syndrome B	Optic atrophy, Atypical scarring of skin, Pigmentary retinopathy, Abnormal auditory evoked potent...	OMIM:133540
Monosomy 13Q34	Hematochezia, Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Obesity, Metror...	ORPHA:96168
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea...	ORPHA:91347
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Bulbous nose, Anteverted nares, P...	OMIM:616900
Curry-Jones Syndrome	Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum	ORPHA:1553
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo...	OMIM:219090
Mitochondrial Complex I Deficiency, Nuclear Type 37	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Inguinal hernia, Pulmonary arterial h...	OMIM:619272
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Hypopituitarism, Periventr...	OMIM:603671
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Failure to thrive, Lethargy, Hydrocephalus, Hypertension	ORPHA:2169
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hyperte...	OMIM:609136
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Flexion contracture, Ventriculomegaly, Abnormal autonomic nervous system physiology	OMIM:616683
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Female hypogonadism, Male hypogonadism, Decreased serum testosterone c...	ORPHA:52901
Osteogenesis Imperfecta, Type Xxiii	Truncal obesity	OMIM:620639
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Bifid scrotum, Anteverted nares, Cryptorchidism, Agenes...	OMIM:257300
Stiff-Person Syndrome	Tachycardia, Depression, Hypertension, Diabetes mellitus	OMIM:184850
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Ventriculomegaly, Failure to thrive, Inability to walk, Prominent nasal bridge...	OMIM:617452
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Ventriculomegaly, Hypogonadism, Decreased nerve conduction...	OMIM:610651
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Small scrotum, Ventriculomegaly, Focal polymicrogyria, Microphallus, Depressed...	OMIM:612651
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventriculomegaly, Failure to thrive, Inability to walk, Prominent nasal bridge, Cryptorchidism, D...	ORPHA:505237
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Bulbous nose, Anteverted nares, Patent ductus...	OMIM:220500
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Morgagni-Stewart-Morel Syndrome	Depression, Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocri...	ORPHA:77296
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Ventriculomegaly, Undetectable visual evoked potentials, Irritability, Hydrocephal...	OMIM:259720
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Small scrotum, Microphallus, Optic d...	OMIM:618454
Distal Triplication 15Q	Birth length greater than 97th percentile, Large for gestational age, Abnormal external genitalia...	ORPHA:314588
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Obesity, Inguinal hernia, Cryptorchidism, Micropenis, Heart murmur, Motor ste...	OMIM:618653
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Pear-shaped nose, Cryptorchidism, Overfriendliness, Agenesis of corpus callosum, H...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Pear-shaped nose, Cryptorchidism, Overfriendliness, Agenesis of corpus callosum, H...	ORPHA:363958
Brain Malformations With Or Without Urinary Tract Defects	Ventriculomegaly, Failure to thrive, Anteverted nares, Inguinal hernia, Agenesis of corpus callos...	OMIM:613735
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Cryptorchidism, Abnormality of the sense of s...	ORPHA:284160
Mucopolysaccharidosis Type 2	Arrhythmia, Motor stereotypy, Wide nose, Decreased nerve conduction velocity, Flexion contracture...	ORPHA:580
Bilateral Polymicrogyria	Ventriculomegaly, Central hypothyroidism, Pseudobulbar paralysis, Facial diplegia, Abnormal gloss...	ORPHA:268940
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Multiple central...	OMIM:613001
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the retina,...	OMIM:253280
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Retinal degeneration	OMIM:620646
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Obesity, Dysmetria, Gait disturbance, Unsteady gait	ORPHA:93952
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Insulin-Like Growth Factor I, Resistance To	Wide nasal bridge, Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Tru...	OMIM:270450
Houge-Janssens Syndrome 3	Self-injurious behavior, Ventriculomegaly, Broad nasal tip, Umbilical hernia, Inguinal hernia, At...	OMIM:618354
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Ventriculomegaly, Bruxism, Recurrent hand flapping, Gait disturbance, Abnormal autonomic nervous ...	OMIM:617903
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Achondroplasia	Depressed nasal bridge, Anteverted nares, Obesity, Hydrocephalus, Short nasal bridge	ORPHA:15
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy	ORPHA:168549
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Choroidal neovascularization, Macular degeneration	ORPHA:404451
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Internal hemorrhage, Micropenis, Tachycardia	ORPHA:335
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Proboscis, Anteverted nares, Periventricular heteroto...	OMIM:619895
Pseudotrisomy 13 Syndrome	Polymicrogyria, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Adrenal hypoplasia, H...	OMIM:264480
Tetrasomy 5P	Wide nasal bridge, Failure to thrive, Congestive heart failure, Anteverted nares, Pericallosal li...	ORPHA:3309
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste...	ORPHA:101016
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Ventriculomegaly, Tricuspid regurgitation, Anteverted nares, Periventricu...	OMIM:618870
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neu...	ORPHA:228308
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Ventriculomegaly, Agyria, Retinal dystrophy, Polymicrogyria	ORPHA:370997
Acth-Independent Macronodular Adrenal Hyperplasia	Depression, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro...	OMIM:219080
Phelan-Mcdermid Syndrome	Cellulitis, Wide nasal bridge, Ventriculomegaly, Broad-based gait, Bulbous nose, Bruxism, Tall st...	OMIM:606232
Skraban-Deardorff Syndrome	Depressed nasal bridge, Ventriculomegaly, Broad-based gait, Anteverted nares, Spastic gait	OMIM:617616
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Obesity, Broad nasal tip	OMIM:619680
Jacobsen Syndrome	Optic atrophy, Depressed nasal bridge, Failure to thrive, Chorioretinal coloboma, Anteverted nare...	OMIM:147791
Trisomy 17P	Aortic valve stenosis, Hypoplasia of penis, Thick nasal alae, Prominent nose, Hydrocephalus, Flex...	ORPHA:261290
Coffin-Lowry Syndrome	Self-injurious behavior, Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Thick nasal ala...	ORPHA:192
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Ventriculomegaly, Concentric hypertrophic cardiomyopathy, Hype...	OMIM:618052
Double Outlet Right Ventricle	Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Failure to thrive, Heart murmur, Hypopa...	ORPHA:3426
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Optic atrophy, Depressed nasal bridge, Hydrocephalus, Long nose, Right bundle branch block, Short...	OMIM:618590
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Mitral stenosis, Agenesi...	OMIM:617260
Alg12-Cdg	Ventriculomegaly, Failure to thrive, Pachygyria, Prominent nasal bridge, Cryptorchidism, Chronic ...	ORPHA:79324
Tay-Sachs Disease	Precocious puberty, Optic atrophy, Ventriculomegaly, Depression, Cherry red spot of the macula, I...	ORPHA:845
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Self-injurious beha...	ORPHA:466950
Houge-Janssens Syndrome 1	Ventriculomegaly, Gait ataxia, Hydrocephalus	OMIM:616355
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Failure to thrive, Hydrocephalus, Facial palsy	OMIM:259700
Congenital Myopathy 9A	Obesity	OMIM:618822
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Ventriculomegaly, Abnormal cortical gyration, Contractures of the large joints, Fa...	ORPHA:521426
Coccidioidomycosis	Vasculitis, Atypical scarring of skin, Vasospasm, Increased CSF protein concentration, Abnormalit...	ORPHA:228123
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car...	ORPHA:466677
Sotos Syndrome	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Enlarged naris, Tall stature, Antevert...	OMIM:117550
Takenouchi-Kosaki Syndrome	Flared nostrils, Optic atrophy, Ventriculomegaly, Wide nasal bridge, Bulbous nose, Inguinal herni...	OMIM:616737
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Hypertrophic cardiomyopathy, Obesity, Prominent nasal bridge, Congenital diaph...	ORPHA:251071
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Tachycardia	ORPHA:264675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Congenital contracture, Type II lissencephaly, Encephalocele, Agenesis of corpu...	OMIM:613150
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Lethargy, Irritability	OMIM:229700
Desbuquois Dysplasia 1	Concave nasal ridge, Depressed nasal bridge, Obesity, Short nose	OMIM:251450
Marshall-Smith Syndrome	Optic atrophy, Ventriculomegaly, Choanal atresia, Failure to thrive, Anteverted nares, Short nose	ORPHA:561
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Hypertensive retinop...	OMIM:171300
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Broad columella, Underdeveloped nasal alae, Umbilical hernia, Anteverted ...	ORPHA:1001
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Ventriculomegaly, Loss of ambulation, Ataxia, Dysphagia	OMIM:620166
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Dysphagia, Abnormal autonomic n...	ORPHA:94093
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Dilated third ventricle, Depression, Ataxia, Abnormal cerebrospinal fluid morphology	ORPHA:314404
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Spondyloenchondrodysplasia	Vasculitis, Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lat...	ORPHA:1855
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Self-injurious behavior, Ventriculomegaly, Failure to thrive, Umbilical herni...	ORPHA:261652
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Concave nasal ridge, Failure to thrive, Small for gestational age, Truncal obesity	ORPHA:73272
Developmental And Epileptic Encephalopathy 80	Wide nasal bridge, Ventriculomegaly, Failure to thrive, Polymicrogyria, Optic disc pallor	OMIM:618580
Cocaine Intoxication	Mania, Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarach...	ORPHA:90068
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, A...	ORPHA:157
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hypertrophic cardiomyopathy, Increased CSF lactate, Obesity, Achilles tendon contracture, Heart m...	OMIM:615418
Joubert Syndrome 31	Truncal ataxia, Ventriculomegaly	OMIM:617761
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Depression, Failure to thrive, Goiter, Reduced left ...	ORPHA:254892
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Decreased testicular size, Abdominal obesity, Hypoplasia of the ovary, Hydrocephal...	OMIM:619321
Triploidy	Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Omphalocele, Meningocele, Holoprosencephaly, ...	ORPHA:3376
Crouzon Syndrome	Optic atrophy, Deviated nasal septum, Hydrocephalus, Dysgerminoma	OMIM:123500
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori...	ORPHA:398124
22Q11.2 Deletion Syndrome	Cryptorchidism, Hypoparathyroidism, Hypospadias, Patent ductus arteriosus, Choanal atresia, Gastr...	ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Nasal congestion, Elbow flexion contracture, Bulbous no...	OMIM:608836
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Ventriculomegaly, Small for gestational age, Failure to th...	ORPHA:404454
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Irregular menstruation, Lipodystrophy, Hypertension, Decreased serum...	OMIM:615238
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Self-injurious behavior, Ventriculomegaly, Broad-based gait	OMIM:618707
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Ventriculomegaly, Inability to walk, Retractile testis, Ataxia, Low hanging colume...	OMIM:617193
Bohring-Opitz Syndrome	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Congenital contractur...	ORPHA:97297
Bloom Syndrome	Azoospermia, Retinopathy, Adipose tissue loss, Telangiectasia, Oligozoospermia, Abdominal obesity...	ORPHA:125
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu...	ORPHA:435651
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Patent ductus a...	ORPHA:1860
Orofaciodigital Syndrome Xvii	Micropenis, Ventriculomegaly, Prominent nose, Decreased body weight	OMIM:617926
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Bulbous nose, Agenesis of corpus callosum, Colpocephaly, Long nose, Partial agenesis of the corpu...	OMIM:620113
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Delayed pu...	OMIM:614921
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Abnormality of the male genitalia, Prominent nose, Decreased body weight, Hydr...	OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Self-injurious behavior, Broad-based gait, Broad nasal tip, Fixated interests,...	OMIM:620330
Hydroxykynureninuria	Tachycardia, Hypotension, Motor stereotypy	ORPHA:79155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Galloway-Mowat Syndrome 1	Optic atrophy, Joint contracture of the hand, Ventriculomegaly, Pachygyria, Prominent nose, Hiatu...	OMIM:251300
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Precocious puberty, Ventriculomegaly, Underdeveloped nasal alae, Abnormal fema...	ORPHA:2637
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly, Optic nerve hypoplasia	OMIM:618381
Femoral-Facial Syndrome	Ventriculomegaly, Long penis, Cryptorchidism, Inguinal hernia, Maternal diabetes, Short nose	ORPHA:1988
Basilicata-Akhtar Syndrome	Precocious puberty, Ventriculomegaly, Anteverted nares, Wide nasal ridge, Choanal stenosis, Campt...	OMIM:301032
Rahman Syndrome	Camptodactyly, Ventriculomegaly, Cryptorchidism	OMIM:617537
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Ventriculomegaly, Abnormal cortical gyration, Failure to thrive, Umbilical hernia, Hypogonadism, ...	ORPHA:79351
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Irritability, Lethargy, Ventricular tachycardia, Arrhythmia	ORPHA:159
Cohen Syndrome	Optic atrophy, Failure to thrive in infancy, Obesity, Prominent nasal bridge, Abnormality of reti...	ORPHA:193
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Bidirectional shunt, Depressed nasal bridge, Lateral ventricle dilatation, ...	OMIM:619534
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Optic atrophy, Ventriculomegaly, Chorioretinitis	ORPHA:294
Tuberous Sclerosis Complex	Chorioretinal hypopigmentation, Parathyroid adenoma, Abnormal social behavior, Noncommunicating h...	ORPHA:805
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Depressed nasal bridge, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Let...	OMIM:604377
Lowry-Maclean Syndrome	Choanal atresia, Bilateral cryptorchidism, Inguinal hernia, Congenital diaphragmatic hernia, Hydr...	ORPHA:2409
Shox-Related Short Stature	Obesity	ORPHA:314795
Knobloch Syndrome	Depressed nasal bridge, Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Abnorma...	ORPHA:1571
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Musk, Inability To Smell	Anosmia	OMIM:254150
Familial Exudative Vitreoretinopathy	Lymphedema, Macular edema, Microphthalmia	ORPHA:891
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Ventriculomegaly, Bulbous nose, Anteverted nares, Periventricular nodular...	OMIM:619188
Monosomy 18P	Lymphedema, Microphthalmia	ORPHA:1598
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Atrial septal defect, Anophthalmia, Truncus arteriosus	ORPHA:2538
Mirage Syndrome	Microphallus, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Decreased body we...	OMIM:617053
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema, Microphthalmia	OMIM:152950
Chromosome 22Q13 Duplication Syndrome	Anteverted nares, Emotional lability, Narrow nasal ridge, Attention deficit hyperactivity disorde...	OMIM:615538
Kabuki Syndrome 1	Wide nasal bridge, Anoperineal fistula, Lateral ventricle dilatation, Depressed nasal tip, Congen...	OMIM:147920
Werner Syndrome	Convex nasal ridge, Retinal degeneration	OMIM:277700
Mercury Poisoning	Tachycardia, Hypotension, Hypertension, Anorexia	ORPHA:330021
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, P...	ORPHA:79085
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Bacterial Toxic-Shock Syndrome	Cellulitis, Hypotension, Fasciitis, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Emotional lability, Hypertension, Orthostatic hypotension	OMIM:223900
Seckel Syndrome 9	Ventriculomegaly, Clitoral hypertrophy, Congenital diaphragmatic hernia, Agonadism, Ambiguous gen...	OMIM:616777
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ...	OMIM:600955
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Broad-based gait, Cryptorchidism, Chordee, Retinal detachment, Ataxia, Dys...	ORPHA:268261
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Ventriculomegaly, Hypertrophic cardiomyopathy, Anteverted nares, Micropenis, F...	OMIM:616897
Opitz-Kaveggia Syndrome	Choanal atresia, Joint contracture of the hand, Hypospadias, Umbilical hernia, Prominent nose, In...	OMIM:305450
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
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	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Fliedner-Zweier Syndrome	Bulbous nose, Obesity	OMIM:620511
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Hydrocephaly-Low Insertion Umbilicus Syndrome	Hernia of the abdominal wall, Long nose, Communicating hydrocephalus, Patent ductus arteriosus, W...	ORPHA:2184
Stromme Syndrome	Wide nasal bridge, Retinal vascular tortuosity, Short columella, Prominent nasal bridge, Agenesis...	OMIM:243605
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Anteverted nares, Agenesis o...	OMIM:619720
Diabetic Embryopathy	Spinal dysraphism, Abnormal morphology of female internal genitalia, Tall stature, Cryptorchidism...	ORPHA:1926
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Edema, Microphthalmia	ORPHA:2505
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemor...	ORPHA:79282
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Ventricular fibrillation, Holoprosencephaly, Hypospadias, Patent d...	OMIM:270400
Holoprosencephaly 9	Choanal atresia, Depressed nasal bridge, Broad nasal tip, Anterior pituitary agenesis, Single nar...	OMIM:610829
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Chorioretinal coloboma, Anteverted nares, Meningocel...	ORPHA:2031
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Ventriculomegaly, Underdeveloped nasal alae, Camptodactyly of finger, Prominent na...	ORPHA:2083
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Retinopathy, Cachexia, Hydrocephalus, Ataxia	ORPHA:220295
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Charge Syndrome	Cryptorchidism, Hypoparathyroidism, Holoprosencephaly, Dysphagia, Patent ductus arteriosus, Choan...	OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disord...	OMIM:301039
Trichothiodystrophy	Ventriculomegaly, Macular degeneration, Cardiomyopathy, Umbilical hernia, Gonadal dysgenesis, Gai...	ORPHA:33364
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Emotional lability, Cryptorchidism, Hypospadias, Motor stereotypy, Patent ...	ORPHA:353281
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Ventriculomegaly, Hypospadias, Failure to thrive, Na...	ORPHA:464306
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Congenital Myopathy 22A, Classic	Wide nasal bridge, Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contrac...	OMIM:620351
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Pseudoxanthoma Elasticum	Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d...	OMIM:264800
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Hydrocephal...	ORPHA:268249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Joubert Syndrome 6	Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Hyposmia, Hypogonadism, External genital hypoplasia, Inguinal hernia, Cryptorchidism, Ab...	ORPHA:2250
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cholera	Hypovolemic shock, Hypotension, Irritability, Lethargy, Tachycardia	ORPHA:173
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Holoprosencephaly, Alobar holoprosencephaly, Semilob...	OMIM:610828
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Pigmented Nodular Adrenocortical Disease, Primary, 4	Depression, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism...	OMIM:615830
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,...	OMIM:301043
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Ventriculomegaly, Small for gestational age, Failure to thrive, Hypertrophic cardiom...	OMIM:615471
Martsolf Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Cardiomyopathy, Congestive heart failu...	OMIM:212720
Tetrasomy 9P	Lissencephaly, Inappropriate behavior, Umbilical hernia, Abnormal dental enamel morphology, Bulbo...	ORPHA:3310
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Retinal coloboma, Bilateral cryptorchidism, Bulbous nose, Dilated fourth...	ORPHA:434179
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ...	ORPHA:3455
Atypical Werner Syndrome	Aortic valve stenosis, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsul...	ORPHA:79474
Leopard Syndrome 1	Depressed nasal ridge, Third degree atrioventricular block, Hyposmia, Hypertrophic cardiomyopathy...	OMIM:151100
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Small scrotum, Hypogonadism, Anteverted nares, Obesity, External genital hypoplasi...	OMIM:614231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Angelman Syndrome	Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Ataxia, Paroxysmal bursts of l...	OMIM:105830
Acth-Independent Macronodular Adrenal Hyperplasia 2	Depression, Increased circulating cortisol level, Increased urinary cortisol level, Decreased cir...	OMIM:615954
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Sandestig-Stefanova Syndrome	Wide nasal bridge, Ventriculomegaly, Convex nasal ridge, Camptodactyly, Small for gestational age	OMIM:618804
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Mend Syndrome	Aortic valve stenosis, Abnormal auditory evoked potentials, Failure to thrive, Prominent nasal br...	ORPHA:401973
Sepsis In Premature Infants	Hypotension, Decreased body weight, Bradycardia, Tachycardia, Small for gestational age	ORPHA:90051
Genitopalatocardiac Syndrome	Wide nasal bridge, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, H...	ORPHA:2075
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephal...	ORPHA:1908
Gracile Bone Dysplasia	Ascites, Aniridia, Microphthalmia	OMIM:602361
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Ventriculomegaly, Short columella, Aganglionic megacolon, Intraventricular hem...	OMIM:613603
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Witteveen-Kolk Syndrome	Flared nostrils, Male urethral meatus stenosis, Type II diabetes mellitus, Congenital diaphragmat...	OMIM:613406
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration	ORPHA:168491
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Self-injurious beha...	ORPHA:466943
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Amelogenesis imperfecta, Hydrocephalus	ORPHA:1946
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Mannosidosis, Alpha B, Lysosomal	Depressed nasal ridge, Retinal degeneration	OMIM:248500
Microphthalmia/Coloboma 12	Ventriculomegaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of t...	OMIM:120200
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Aganglionic megacolon, Hydrocephalus, Athetosis, Short nose	OMIM:239300
Kniest Dysplasia	Depressed nasal bridge, Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment,...	ORPHA:485
African Trypanosomiasis	Myelopathy, Difficulty walking, Arrhythmia, Weight loss, Choreoathetosis, Third degree atrioventr...	ORPHA:3385
Cerebrooculonasal Syndrome	Ventriculomegaly, Proboscis, Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocephal...	OMIM:605627
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Patent ductus arteriosus, Heart block, Aortic regurgitation, Third degree atrioventri...	ORPHA:216694
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Ventriculomegaly, Tip-toe gait, Failure to thrive, Increased CSF citrul...	ORPHA:3008
Down Syndrome	Depressed nasal ridge, Depressed nasal bridge, Umbilical hernia, Obesity, Type II diabetes mellit...	ORPHA:870
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Failure to thrive, Hypertrophic cardiomyopathy, Bulbous nose, Anteverted ...	OMIM:115150
Musculocontractural Ehlers-Danlos Syndrome	Ventriculomegaly, Disproportionate tall stature, Atrophic scars, Inguinal hernia, Cryptorchidism,...	ORPHA:2953
Microphthalmia, Syndromic 2	Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Double out...	OMIM:300166
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Emotional lability, Cryptorchidism, Prominent nasal septum, Motor stereoty...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Emotional lability, Cryptorchidism, Prominent nasal septum, Motor stereoty...	ORPHA:353277
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy	OMIM:212550
Tetrasomy 15Q26	Camptodactyly, Patent ductus arteriosus, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Self-injurious behavior, Abnormal temper tantrums, Ventriculomegaly, Broad nasal tip, Underdevelo...	ORPHA:404473
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level...	ORPHA:247768
Borjeson-Forssman-Lehmann Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Camptodactyly of toe, Tru...	ORPHA:127
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Aase-Smith Syndrome I	Flexion contracture, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Beck-Fahrner Syndrome	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Depression, Reduced social recipr...	OMIM:618798
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Broad-based gait, Ventriculomegaly, Azoospermia, Limb ataxia, Spontaneo...	ORPHA:2072
Kleefstra Syndrome 1	Hypospadias, Anteverted nares, Obesity, Cryptorchidism, Aggressive behavior, Micropenis, Compulsi...	OMIM:610253
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Camptodactyly of finger, Prominent nasal bridge, Cryptorchidism, Hydrocep...	OMIM:619951
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:603194
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Anophthalmia, Microphthalmia	ORPHA:2526
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal scarring, Hyposmia	OMIM:616488
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Agitation, Decreased bod...	ORPHA:340
Knobloch Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Occipital encephalocele, Vitreoretinopathy, Polymicrogy...	OMIM:267750
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Situs inversus totalis, Anophthalmia, Microphthalmia	ORPHA:564
Acute Intermittent Porphyria	Depression, Pseudobulbar paralysis, Tachycardia, Restlessness, Hypertension	ORPHA:79276
Neurooculorenal Syndrome	Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Polymicrogyria, Decreased ...	OMIM:620305
Cardiofaciocutaneous Syndrome	Optic atrophy, Depressed nasal bridge, Hypertrophic cardiomyopathy, Failure to thrive in infancy,...	ORPHA:1340
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Chops Syndrome	Optic atrophy, Anteverted nares, Obesity, Cryptorchidism, Patent ductus arteriosus, Short nose	OMIM:616368
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Broad nasal tip, Umbilical hernia, Bulbous nose, Ventricular arrhythmia, Gray ...	OMIM:620475
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Ventriculomegaly, Myelopathy, Increased CSF lactate, Irritability, Ataxia, R...	OMIM:617186
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Ventriculomegaly, Retinopathy, Agenesis of corpus callosum, Multiple lipom...	ORPHA:2396
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Clitoral hypertrophy, Anteverted nares, Inguinal hernia, Agenesis of corpus cal...	OMIM:616449
Neu-Laxova Syndrome	Lissencephaly, Depressed nasal ridge, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyri...	ORPHA:2671
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Inguinal her...	ORPHA:558
Fryns Syndrome	Wide nasal bridge, Ventriculomegaly, Anteverted nares, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:2059
Kabuki Syndrome	Precocious puberty, Ventriculomegaly, Failure to thrive, Short columella, Obesity, Congenital dia...	ORPHA:2322
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Hydrocephalus, Short nose	OMIM:300863
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Choanal atresia, Depressed nasal bridge, Hypoplastic labia majora, Choanal stenosis, Fused labia ...	OMIM:207410
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis, Congestive heart failure	ORPHA:163596
De Sanctis-Cacchione Syndrome	Optic atrophy, Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration, Bilateral...	OMIM:278800
Neurofibromatosis Type 1	Precocious puberty, Chorioretinal coloboma, Tall stature, Pheochromocytoma, Abnormality of retina...	ORPHA:636
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Lateral Meningocele Syndrome	Keloids, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hydrocephalus, Meningocele, Patent du...	OMIM:130720
Bardet-Biedl Syndrome 20	Male hypogonadism, Retinal vascular tortuosity, Bilateral cryptorchidism, Obesity, Papilledema, R...	OMIM:619471
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Fanconi Anemia	Choanal atresia, Ventriculomegaly, Abnormality of the uterus, Umbilical hernia, Hypertrophic card...	ORPHA:84
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Prominent nose	ORPHA:319675
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Choanal atresia, Abnormal dental enamel morphology, Hypogonadism, Exte...	ORPHA:2658
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Failure to thrive, Anteverted nares, C...	OMIM:254940
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Prominent nasal bridge, Retinopathy	OMIM:619269
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Chorioretinal coloboma, Macular atrophy	OMIM:602499
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Distal 22Q11.2 Microduplication Syndrome	Depressed nasal ridge, Optic disc coloboma, Camptodactyly of finger, Tricuspid regurgitation, Bul...	ORPHA:261337
Koolen-De Vries Syndrome	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Abnormal dental enamel morphology...	ORPHA:96169
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Anteverted nares,...	OMIM:616430
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Porphyria, Acute Intermittent	Tachycardia, Depression, Hypertension	OMIM:176000
Ulnar-Mammary Syndrome	Abnormality of the uterus, Camptodactyly of finger, Obesity, Decreased fertility, Cryptorchidism,...	ORPHA:3138
Chromosome 17P13.1 Deletion Syndrome	Depressed nasal bridge, Umbilical hernia, Elbow flexion contracture, Bulbous nose, Anteverted nar...	OMIM:613776
Mend Syndrome	Aortic valve stenosis, Failure to thrive, Bulbous nose, Prominent nasal bridge, Cryptorchidism, M...	OMIM:300960
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ocular albinism, Hydrocephalus, Ataxia	ORPHA:2720
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop...	OMIM:608940
Occipital Horn Syndrome	Atypical scarring of skin, Keloids, Inguinal hernia, Abnormality of the sense of smell, Hiatus he...	ORPHA:198
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Congenital diaphragmatic hernia, Omphalocele, Abnormal morphology of female intern...	ORPHA:1834
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hyperparathyroidism, Umbilical herni...	OMIM:618188
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Arrhythmia, Paroxysmal supraventricular tachycardia, Short nose, Spina bifida o...	OMIM:617877
Congenital Syphilis	Optic atrophy, Chorioretinitis, Hydrocephalus, Myocarditis, Rhinitis, CSF pleocytosis, Concave na...	ORPHA:499009
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Broad-based gait, Failure to thrive, Obesity, Abnormality of the pineal gland, Aggressive behavio...	ORPHA:369950
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hypogonadism, Obesity, Rod-cone dystrophy, Vaginal atresia	OMIM:615989
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Abnormal male external genitalia morphology, Abnormal v...	ORPHA:813
Papillorenal Syndrome	Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper...	OMIM:120330
Full Nf2-Related Schwannomatosis	Myelopathy, Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Epiretinal membrane...	ORPHA:637
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Osteopathia Striata With Cranial Sclerosis	Wide nasal bridge, Joint contracture of the hand, Failure to thrive, Hydrocephalus, Omphalocele, ...	OMIM:300373
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Czeizel-Losonci Syndrome	Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Posterolateral diaphragmatic...	ORPHA:2437
Orofaciodigital Syndrome I	Wide nasal bridge, Abnormal cortical gyration, Underdeveloped nasal alae, Myelomeningocele, Ovari...	OMIM:311200
Waardenburg Syndrome, Type 2E	Anosmia, Hypopigmentation of the fundus, Ocular albinism	OMIM:611584
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Tricuspid regurgitation, Congenital diaphragmatic hernia, Spina bifida, Patent ...	ORPHA:1120
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	OMIM:219730
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Depressed nasal bridge, Congestive heart failure, Pulmonary arterial hype...	OMIM:616482
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspi...	OMIM:620519
14Q22Q23 Microdeletion Syndrome	Small scrotum, Ventriculomegaly, Underdeveloped nasal alae, Optic nerve aplasia, Cryptorchidism, ...	ORPHA:264200
Lhermitte-Duclos Disease	Polymicrogyria, Neoplasm of the thyroid gland, Hydrocephalus, Ataxia, Ovarian neoplasm	ORPHA:65285
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Anosmia, Inguinal hernia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypopla...	OMIM:603457
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Hyposmia	OMIM:607060
Imerslund-Gräsbeck Syndrome	Tachycardia, Weight loss, Failure to thrive	ORPHA:35858
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Failure to thrive...	OMIM:619418
Hydranencephaly	Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Thalamic edema, Chorioret...	ORPHA:2177
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Emot...	ORPHA:99889
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
3Q29 Microduplication Syndrome	Wide nasal bridge, Obesity	ORPHA:251038
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:309120
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture	ORPHA:1865
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope, Weight loss	ORPHA:98849
Koolen-De Vries Syndrome	Ventriculomegaly, Failure to thrive, Bulbous nose, Prominent nasal bridge, Pear-shaped nose, Cryp...	OMIM:610443
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Anorexia, Capillary leak, Orchitis, Aggressive be...	ORPHA:99826
Meckel Syndrome, Type 4	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:611134
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract infections, Sinus ...	OMIM:253200
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Ventriculomegaly, Decreased response to growth hormone stimulation test, ...	OMIM:241410
Adiposis Dolorosa	Depression, Hypothyroidism, Telangiectasia of the skin, Obesity	ORPHA:36397
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Underdeveloped nasal alae, Decreased response to growth hormone stimulati...	OMIM:616007
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Hydrocephalus, Short nose	ORPHA:163966
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent sinusitis, Immotile sperm, Absent inner dynein arms, Rhinitis, Absent...	OMIM:614874
Cardiac Diverticulum	Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Mi...	ORPHA:1686
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Anteverted nares, Congenital diaphragm...	OMIM:612530
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio...	ORPHA:191
Heart And Brain Malformation Syndrome	Polyhydramnios, Microphthalmia	OMIM:616920
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Distal Deletion 12Q	Pituitary adenoma, Maturity-onset diabetes of the young, Elbow flexion contracture, Bulbous nose,...	ORPHA:96149
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Elbow contracture, Knee flexion contracture, Decreased serum insulin-like grow...	OMIM:618162
Cockayne Syndrome Type 3	Narrow nose, Abnormality of peripheral nerve conduction, Retinal degeneration, Retinal atrophy, R...	ORPHA:90324
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Ventriculomegaly, Nonprogressive cerebellar ataxia, Choreoathetosis, Failure to thrive	ORPHA:431361
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Failure to thrive in infancy, Emotional lability, Aggressive behavior, Pineal ...	ORPHA:529962
Chilton-Okur-Chung Neurodevelopmental Syndrome	Self-injurious behavior, Epistaxis, Depressed nasal bridge, Broad nasal tip, Hypospadias, Aplasia...	OMIM:619841
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Ventriculomegaly, Failure to thrive, Elbow flexion contracture, Inguinal hernia,...	OMIM:151050
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Opitz Gbbb Syndrome	Wide nasal bridge, Hypospadias, Ventriculomegaly, Bifid scrotum, Umbilical hernia, Anteverted nar...	ORPHA:2745
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Depressed nasal bridge, Depression, Umbilical hernia, Mitral regurgitation,...	ORPHA:309282
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus	OMIM:312190
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Ciliary Dyskinesia, Primary, 34	Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair morphology of respiratory...	OMIM:617091
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Ventriculomegaly, Dysgyria, Posterior predominant t...	ORPHA:95232
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Umbilical hernia, Encephalocele, Cryptorchidism, Ambiguous genitalia, Absent nares, ...	ORPHA:2166
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus, Ataxia	ORPHA:1861
Aromatase Deficiency	Female infertility, Male infertility, Tall stature, Obesity, Ambiguous genitalia, female, Eunucho...	ORPHA:91
Proboscis Lateralis	Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect	ORPHA:141099
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Atypical scarring of skin, Ventriculomegaly, Underdeveloped nasal alae, Polymicrogyria, Atrophic ...	OMIM:618343
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Galloway-Mowat Syndrome 3	Ventriculomegaly, Failure to thrive, Pachygyria, Hiatus hernia, Camptodactyly, Hypertension, Liss...	OMIM:617729
Genitopatellar Syndrome	Wide nasal bridge, Small scrotum, Clitoral hypertrophy, Prominent nose, Prominent nasal bridge, P...	OMIM:606170
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Cog8-Cdg	Ventriculomegaly, Failure to thrive, Ataxia	ORPHA:95428
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Bulbous nose, Cryptorchidism, Low...	OMIM:615803
Sifrim-Hitz-Weiss Syndrome	Ventriculomegaly, Gait imbalance, Cryptorchidism, Hypogonadotropic hypogonadism, Ambiguous genita...	OMIM:617159
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
White-Kernohan Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Obesity, Dysplastic corpus c...	OMIM:619426
1P21.3 Microdeletion Syndrome	Obesity, Broad nasal tip, Short nose	ORPHA:293948
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, ...	OMIM:610505
Narcolepsy 7	Obesity	OMIM:614250
Williams Syndrome	Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Cryptorchidism, Polycystic ova...	ORPHA:904
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus	ORPHA:1237
Intellectual Disability-Alacrima-Achalasia Syndrome	Aggressive behavior, Ventriculomegaly, Dysphagia, Delayed early-childhood social milestone develo...	ORPHA:289483
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Rod-cone dystrophy, Cardiomyopathy, Ataxia	OMIM:616084
Thakker-Donnai Syndrome	Bulbous nose, Anteverted nares, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Com...	ORPHA:1780
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
Fraser Syndrome 1	Abnormal heart morphology, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Multiple ...	ORPHA:264450
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Wilson Disease	Chondrocalcinosis, Decreased nerve conduction velocity, Hypoparathyroidism, Dysphagia, Hyposmia	OMIM:277900
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Encephalocele, Pulmonary art...	ORPHA:974
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Hydrocephalus	OMIM:616294
Cryptococcosis	Abnormal optic nerve morphology, Abnormal cranial nerve morphology, Prostatitis, Hydrocephalus, A...	ORPHA:1546
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Umbilical hernia, A...	ORPHA:221139
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Autoimmune Hypoparathyroidism	Depression, Autoimmune hypoparathyroidism, Irritability, Prolonged QT interval, Ventricular arrhy...	ORPHA:36913
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Ventriculomegaly, Akinesia, Anteverted nares, Decreased body weight, Dysp...	OMIM:608013
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Aymé-Gripp Syndrome	Depressed nasal bridge, Ventriculomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Crypt...	ORPHA:1272
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Difficulty walking, Slender build, Large for gestational age, Prominent nasal b...	ORPHA:457359
Toriello-Carey Syndrome	Ventriculomegaly, Cardiomyopathy, Cryptorchidism, Agenesis of corpus callosum, Aganglionic megaco...	ORPHA:3338
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Patent duc...	OMIM:227646
Rodrigues Blindness	Microphthalmia	OMIM:268320
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Polymicrogyria, Elbow flexion contract...	OMIM:619777
Gaucher Disease	Ventriculomegaly, Depression, Abnormal macular morphology, Cherry red spot of the macula, Retinop...	ORPHA:355
Carey-Fineman-Ziter Syndrome	Hypertensive crisis, Ventriculomegaly, Glandular hypospadias, Anteverted nares, Facial palsy, Sho...	ORPHA:1358
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Umbilical hernia, Anteverted nares, Inguinal hernia, Cryptorchidis...	OMIM:182212
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hydrocephalus, Short nose	OMIM:101600
Meckel Syndrome, Type 1	Ventriculomegaly, Occipital encephalocele, Abnormality of the uterus, Camptodactyly of finger, En...	OMIM:249000
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop...	OMIM:615926
Laurin-Sandrow Syndrome	Depressed nasal ridge, Abnormality of the nose, Underdeveloped nasal alae, Prominent nose, Short ...	ORPHA:2378
Moebius Syndrome	Microphthalmia	OMIM:157900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ventriculomegaly, Limb joint contracture, Truncal obesity, Ataxia, Truncal ataxia, Flexion contra...	OMIM:301072
Lymphangioleiomyomatosis	Optic atrophy, Gastrointestinal hemorrhage, Abnormal morphology of female internal genitalia, Hyd...	ORPHA:538
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Camptodactyly, Encephalocele, Joint contracture of the hand, Hydrocephalus	OMIM:224400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Depressed nasal bridge, Atrophic scars, Anteverted nares, Peripapillar...	ORPHA:536467
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Optic atrophy, Ventriculomegaly, Wide nasal bridge, Bulbous nose, Inguinal herni...	ORPHA:487796
Insulin-Resistance Syndrome Type B	Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu...	ORPHA:2298
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Optic disc coloboma, Camptodactyly of finger, Bulbous nose, Inguinal hernia, Cr...	ORPHA:251014
Microcephaly 30, Primary, Autosomal Recessive	Ventriculomegaly, Choanal stenosis, Inguinal hernia	OMIM:620183
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
1P31P32 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Ventriculomegaly, Intraventricular hemorrhage, Compulsi...	ORPHA:401986
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias	OMIM:619718
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Failure to thrive, Mitral regurgitation, Right bundle branch block, Hypertensi...	OMIM:614008
Gapo Syndrome	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Umbilical hernia, Retinal arteriolar tor...	OMIM:230740
Iniencephaly	Lissencephaly, Spinal dysraphism, Myelomeningocele, Congenital diaphragmatic hernia, Encephalocel...	ORPHA:63259
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Hydrocephalus, Patent ductus arteriosus	OMIM:104350
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Cryptorchidism, Agenesis of corpus callosum, Hypospadias, Dy...	OMIM:264090
Sarcoidosis	Increased CSF protein concentration, Diabetes insipidus, Portal hypertension, Abnormal reproducti...	ORPHA:797
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Failure to thrive, Camptodactyly of finger, Myelomeningocele, Encephaloce...	ORPHA:90652
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Ventriculomegaly, Clitoral hypertrophy, Failure to thrive, Anteverted nar...	OMIM:244450
Rubinstein-Taybi Syndrome 1	Cryptorchidism, Agenesis of corpus callosum, Unsteady gait, Hypospadias, Patent ductus arteriosus...	OMIM:180849
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Failure to thrive, Umbilical hernia, Camptodactyly of finger, Anteverted nares,...	ORPHA:2462
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Umbilical hernia, Polymicrogyria, Inguinal hernia, Cryptorchidism, Premature v...	OMIM:620504
Waardenburg Syndrome, Type 4C	Hypogonadism, Aganglionic megacolon, Anosmia, Cryptorchidism	OMIM:613266
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Premature ovarian insufficiency,...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Premature ovarian insufficiency,...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Premature ovarian insufficiency,...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Primary amenorrhea, Premature ovarian insufficiency,...	ORPHA:881
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Sanjad-Sakati Syndrome	Depressed nasal bridge, Ventriculomegaly, Abnormal dental enamel morphology, Cryptorchidism, Cong...	ORPHA:2323
Plasminogen Deficiency, Type I	Ventriculomegaly, Recurrent upper respiratory tract infections, Hydrocephalus, Dandy-Walker malfo...	OMIM:217090
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus	OMIM:177850
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Apert Syndrome	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Cryptorchidism, Agenesis of corpus cal...	OMIM:101200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Abnormal cortical g...	OMIM:300968
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Wide nasal bridge, Ventriculomegaly, Hypospadias, Retinal coloboma, Agenesi...	ORPHA:508498
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Hajdu-Cheney Syndrome	Aortic valve stenosis, Wide nasal bridge, Failure to thrive, Umbilical hernia, Anteverted nares, ...	ORPHA:955
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Ventriculomegaly, Hyperactivity, Self-biting	OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 29	Self-injurious behavior, Frequent temper tantrums, Obesity, Cryptorchidism, Aggressive behavior, ...	OMIM:616078
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Cardiomyopathy, Umbilical hernia, Hydrocephalus, Fl...	OMIM:253220
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Chronic rhinitis, Pulmonary arterial hypertension, Hydrocephalus, Abnorm...	ORPHA:667
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Tricuspid regurgitation, Increased CSF lactate, Decreased CSF copper concentrat...	OMIM:620306
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Anteverted nares, Narrow nasal tip, Cryptorchidism, Chordee, Colpocephaly, Hyp...	ORPHA:477993
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Graves disease, Obesity, Palpitations, Shortened PR interva...	ORPHA:79102
Farber Disease	Recurrent upper respiratory tract infections, Macular degeneration, Failure to thrive, Cherry red...	ORPHA:333
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Failure to thrive, Camptodactyly of finger, Agenesis of c...	ORPHA:2461
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Legius Syndrome	Male urethral meatus stenosis, Vestibular schwannoma, Paroxysmal atrial tachycardia, Attention de...	ORPHA:137605
Acrofacial Dysostosis 1, Nager Type	Polymicrogyria, Prominent nasal bridge, Congenital diaphragmatic hernia, Aganglionic megacolon, H...	OMIM:154400
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Diminishment of social interactions, Ventriculomegaly, Head-banging, Failure t...	OMIM:620455
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Aganglionic megacolon, Short nose	OMIM:614749
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Arachnoiditis	Hydrocephalus	ORPHA:137817
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Peters Plus Syndrome	Optic atrophy, Ventriculomegaly, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Shor...	ORPHA:709
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Aqueductal stenosis, Short nose	ORPHA:93259
Congenital Analbuminemia	Obesity, Lipodystrophy, Small for gestational age, Low pulse pressure	ORPHA:86816
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventriculomegaly, Small for gestational age, Failure to thrive, Cryptorchidism, Frontal polymicro...	OMIM:620024
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Anteverted nares, Retinal degeneration	OMIM:618479
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Congenital Enterovirus Infection	Ventriculomegaly, Hypotension, Cardiomyopathy, Irritability, CSF lymphocytic pleiocytosis, Myocar...	ORPHA:292
Galloway-Mowat Syndrome 9	Hiatus hernia, Ventriculomegaly, Choreoathetosis	OMIM:619603
Isotretinoin-Like Syndrome	Aortic valve stenosis, Anteverted nares, Inguinal hernia, Hydrocephalus, Patent ductus arteriosus	ORPHA:2306
Mosaic Trisomy 9	Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Hydrops fetalis	ORPHA:99776
Meckel Syndrome 14	Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia	OMIM:619879
Aicardi-Goutières Syndrome	Ventriculomegaly, Difficulty walking, Hypertrophic cardiomyopathy, Chronic CSF lymphocytosis, Mul...	ORPHA:51
Zttk Syndrome	Aortic regurgitation, Optic atrophy, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge,...	OMIM:617140
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Failure to thrive, Optic disc colobom...	OMIM:617157
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Ventriculomegaly, Congestive heart failure, Inability to walk, Tricuspid re...	OMIM:620066
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight	ORPHA:69663
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Depressed nasal bridge, Umbilical hernia, Obesity, Aggressive behavior, Bifid...	OMIM:301066
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Oligohydramnios, Macular hypoplasia, Hypoplasia of the ci...	OMIM:609049
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Ventriculomegaly, Broad nasal tip, Depressed nasal bridge, Hypospadias, Bulbous no...	OMIM:309590
Icf Syndrome	Depressed nasal bridge, Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Pentalogy Of Cantrell	Hypospadias, Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Anencephaly	ORPHA:1335
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Optic atrophy, Ventriculomegaly, Umbilical hernia, Bulbous nose, Anteverte...	OMIM:618164
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Thoracoabdominal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus, Omphalocele, Anencep...	OMIM:313850
Isolated Sedoheptulokinase Deficiency	Ventriculomegaly, Portal hypertension, Inguinal hernia, Flexion contracture, Arthrogryposis multi...	ORPHA:440713
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Ventriculomegaly, Choanal atresia, Bulbous nose, Anteverted nares, Tall stature, C...	OMIM:616975
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Focal Dermal Hypoplasia	Optic atrophy, Broad nasal tip, Chorioretinal coloboma, Umbilical hernia, Myelomeningocele, Narro...	OMIM:305600
Monosomy 22Q13.3	Wide nasal bridge, Umbilical hernia, Bulbous nose, Bruxism, Obesity, Hair-pulling, Agenesis of co...	ORPHA:48652
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Tall stature, Large for gestational age, Prominent nasal bridge, Gait ataxia, C...	OMIM:617011
Costello Syndrome	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Antever...	OMIM:218040
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Ventriculomegaly, Umbilical hernia, Tricuspid regurgitation, Atrophic scars...	OMIM:601776
Senior-Loken Syndrome 8	Retinal dystrophy, Rod-cone dystrophy, Macular atrophy	OMIM:616307
Short-Rib Thoracic Dysplasia 12	Inguinal hernia, Ambiguous genitalia, Hydrocephalus, Omphalocele, Holoprosencephaly, Anencephaly,...	OMIM:269860
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Dextrocardia	Abnormal reproductive system morphology, T-wave inversion, Hydrocephalus, Abnormal EKG	ORPHA:1666
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Hyperparathyroidism, Atypical scarring of skin, Ventriculomegaly, Depres...	ORPHA:534
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hern...	OMIM:245600
Microphthalmia With Limb Anomalies	Optic atrophy, Depressed nasal bridge, Failure to thrive, Camptodactyly of 2nd-5th fingers, Crypt...	ORPHA:1106
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Macular degeneration, Failure to thr...	OMIM:266920
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Ventriculomegaly, Broad-based gait, Failure to thrive, Pachygyria, Anteve...	ORPHA:513456
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Ventriculomegaly, Failure to thrive, Polymicrogyria, Decreased nerve cond...	OMIM:261515
Generalized Pustular Psoriasis	Obesity, Overweight	ORPHA:247353
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Ventriculomegaly, Foot joint contracture, Failure to thrive, Abnormal T-wave, ...	ORPHA:444072
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Frontonasal Dysplasia 2	Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Restrictive cardiomyopathy, Obesit...	ORPHA:369837
Curry-Jones Syndrome	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Lipomyelomeningocele, Occipital me...	OMIM:601707
Chronic Thromboembolic Pulmonary Hypertension	Depression, Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-w...	ORPHA:70591
Fontaine Progeroid Syndrome	Depressed nasal bridge, Small scrotum, Failure to thrive, Umbilical hernia, Tricuspid regurgitati...	OMIM:612289
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Desbuquois Dysplasia 2	Depressed nasal bridge, Truncal obesity	OMIM:615777
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Cardiac-Urogenital Syndrome	Wide nasal bridge, Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cry...	OMIM:618280
Hajdu-Cheney Syndrome	Failure to thrive, Umbilical hernia, Anteverted nares, Inguinal hernia, Cryptorchidism, Hydroceph...	OMIM:102500
Spinocerebellar Ataxia Type 7	Macular degeneration, Failure to thrive, Abnormal fundus morphology, Cone/cone-rod dystrophy	ORPHA:94147
Jacobsen Syndrome	Aortic valve stenosis, Wide nasal bridge, Ventriculomegaly, Broad columella, Anteverted nares, In...	ORPHA:2308
Primrose Syndrome	Cryptorchidism, Hip contracture, Ataxia, Tics, Restlessness, Motor stereotypy, Self-injurious beh...	OMIM:259050
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Cousin Syndrome	Joint contracture of the hand, Hydranencephaly, Ambiguous genitalia, female, Ambiguous genitalia,...	OMIM:260660
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Broad nasal tip, Prominent nasal bridge, Rod-cone dystrophy,...	ORPHA:3132
Microcephaly-Micromelia Syndrome	Oligohydramnios, Microphthalmia	OMIM:251230
Lacrimoauriculodentodigital Syndrome	Choanal atresia, Anosmia, Abnormal dental enamel morphology, Corneal neovascularization, Cryptorc...	ORPHA:2363
Cadds	Ventriculomegaly, Adrenal hypoplasia, Short nose	ORPHA:369942
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio...	ORPHA:247234
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventriculomegaly, Broad nasal tip, Abnormality of the uterus, Inguinal hernia, Cryptorchidism, Ab...	ORPHA:1655
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Micropenis, Hydrocephalus, Overhangin...	ORPHA:163979
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Choanal stenosis, Enamel hypoplasia, Hydrocephalus, Arth...	OMIM:259775
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Failure to thrive, Arrhythmia, Left bundle branch block, Facial palsy	OMIM:610131
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Optic atrophy, Ventriculomegaly, Choanal atresia, Self-injurious behavior, Cli...	ORPHA:818
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Baller-Gerold Syndrome	Optic atrophy, Underdeveloped nasal alae, Polymicrogyria, Prominent nasal bridge, Perineal fistul...	OMIM:218600
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Gillespie Syndrome	Ventriculomegaly, Ataxia	OMIM:206700
Neu-Laxova Syndrome 2	Depressed nasal ridge, Ventriculomegaly, Spina bifida, Lissencephaly	OMIM:616038
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Hydrolethalus Syndrome 1	Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Midline defect of the nose, ...	OMIM:236680
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Prominent nasal bridge, Truncal obesity	OMIM:210720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity	ORPHA:209902
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Small scrotum, Hypospadias, Triangular ...	OMIM:309580
Osteogenesis Imperfecta	Aortic regurgitation, Dentinogenesis imperfecta, Ventriculomegaly, Umbilical hernia, Abnormal den...	ORPHA:666
Dubowitz Syndrome	Depressed nasal bridge, Abnormal female external genitalia morphology, Cryptorchidism, Attention ...	ORPHA:235
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
Beckwith-Wiedemann Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Tall stature, Adrenocortical cytomegaly, Obesity, ...	ORPHA:116
Cornelia De Lange Syndrome	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Failure to thrive, Abnormality of the ...	ORPHA:199
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Ventriculomegaly, Umbilical hernia, Bulbous nose, Small for gestational age	OMIM:614501
Gabriele-De Vries Syndrome	Ventriculomegaly, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation tes...	ORPHA:506358
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Depressed nasal bridge, Communicating hydrocephalus, Anteverted nares	ORPHA:1064
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Peters-Plus Syndrome	Ventriculomegaly, Retinal coloboma, Umbilical hernia, Cryptorchidism, Agenesis of corpus callosum...	OMIM:261540
Osteootohepatoenteric Syndrome	Weight loss, Hydrocephalus, Failure to thrive	OMIM:619377
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Myhre Syndrome	Aortic valve stenosis, Obesity, Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus,...	OMIM:139210
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hydrocephalus	OMIM:252100
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Depressed nasal ridge, Ventriculomegaly, ...	OMIM:256520
Ctcf-Related Neurodevelopmental Disorder	Abnormal temper tantrums, Ventriculomegaly, Broad nasal tip, Failure to thrive, Pulmonary hemorrh...	ORPHA:363611
Stickler Syndrome	Depressed nasal ridge, Depressed nasal bridge, Slender build, Anteverted nares, Abnormal vitreous...	ORPHA:828
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Williams-Beuren Syndrome	Mitral regurgitation, Obsessive-compulsive trait, Short nose, Broad nasal tip, Failure to thrive ...	OMIM:194050
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Holoprosencephaly 3	Depressed nasal bridge, Ventriculomegaly, Abnormality of the nose, Proboscis, Short columella, Ce...	OMIM:142945
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus, Omphalocele	ORPHA:2736
Achondroplasia	Depressed nasal bridge, Choanal stenosis, Hydrocephalus	OMIM:100800
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Camptodactyly of finger, Contracture of the distal interphalangeal joi...	OMIM:617072
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Slc39A8-Cdg	Ventriculomegaly, Elbow flexion contracture, Failure to thrive in infancy, Inability to walk, Inc...	ORPHA:468699
Fanconi Anemia, Complementation Group F	Polyhydramnios, Microphthalmia	OMIM:603467
Yunis-Varon Syndrome	Hypospadias, Clitoral hypertrophy, Cardiomyopathy, Anteverted nares, Cryptorchidism, Agenesis of ...	ORPHA:3472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Reduced subcutaneous adipose tissue, Hip contracture, Cryptorchidism, Thyroid h...	OMIM:619503
Plague	Hypotension, Depression, Arrhythmia, Hematemesis, Anorexia, Tachycardia, Unsteady gait	ORPHA:707
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Mowat-Wilson Syndrome	Aortic valve stenosis, Broad-based gait, Cryptorchidism, Agenesis of corpus callosum, Decreased b...	ORPHA:2152
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Mitral regurgitation, Severe failure to thrive, Weight loss, Female hypogo...	ORPHA:740
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Communicating hydrocephalus	ORPHA:2050
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel...	ORPHA:137667
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Precocious puberty, Ventriculomegaly, Hypospadias, Failure to thrive, Cryptorc...	OMIM:194190
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Depressed nasal tip, Aplasia of the uterus, Attention deficit hyperactivity di...	OMIM:614083
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Gaucher Disease, Type I	Epistaxis, Macular atrophy	OMIM:230800
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Micro Syndrome	Microphthalmia	ORPHA:2510
Schinzel-Giedion Syndrome	Hypospadias, Ventriculomegaly, Broad nasal tip, Central hypothyroidism, Umbilical hernia, Failure...	ORPHA:798
Gaisböck Syndrome	Elevated diastolic blood pressure, Obesity, Increased circulating renin level, Angina pectoris, D...	ORPHA:90041
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Depressed nasal bridge, Cardiomyopathy, Umbilical hernia, Birth length greater...	OMIM:312870
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Bilateral choanal atresia, Failure to ...	OMIM:616462
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Anteverted nares...	ORPHA:444077
Fraser Syndrome 3	Small scrotum, Hydrocephalus, Convex nasal ridge, Hypoplasia of penis, Wide nose	OMIM:617667
Cystinosis, Nephropathic	Pigmentary retinopathy, Male hypogonadism, Polydipsia, Retinal pigment epithelial mottling, Failu...	OMIM:219800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Failure to thrive, Cranial nerve compression, Retinal atrophy, Abnormal retinal mo...	ORPHA:2785
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Townes-Brocks Syndrome 1	Choanal atresia, Rectovaginal fistula, Chorioretinal coloboma, Umbilical hernia, Bifid scrotum, C...	OMIM:107480
Crane-Heise Syndrome	Depressed nasal bridge, Ventriculomegaly, Anteverted nares, Cryptorchidism, Hypoplasia of penis	ORPHA:1512
3-Methylglutaconic Aciduria, Type Viii	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Bradycardia, Dysphagia, Patent ductus...	OMIM:617248
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Dysbetalipoproteinemia	Angina pectoris, Obesity, Hypothyroidism, Diabetes mellitus	ORPHA:412
Trisomy 18	Oligohydramnios, Anencephaly, Spina bifida, Microphthalmia	ORPHA:3380
Mitochondrial Complex I Deficiency, Nuclear Type 2	Difficulty walking, Ventriculomegaly, Falls, Hypertrophic cardiomyopathy	OMIM:618222
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Myelomeningocele, Mitral stenosis, Hydrocephalus, Omphalocele, Aqueductal sten...	OMIM:306955
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Coffin-Siris Syndrome 12	Depressed nasal bridge, Hypospadias, Failure to thrive, Underdeveloped nasal alae, Bulbous nose, ...	OMIM:619325
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Elbow flexion contracture, Obesity...	OMIM:181450
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligohydramnios, Microphthalmia	ORPHA:364577
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Ovarian carcinoma, Ovarian fibroma, Hydrocephalus, Spina bifida	OMIM:109400
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Retinal degeneration	OMIM:234200
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Carpenter Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Narrow naris, Tricuspid regurgitation, Umbilical herni...	OMIM:614976
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Sacral lipoma, Dermal sinus tract	OMIM:600145
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Congenital diaphrag...	ORPHA:2369
Oculoauricular Syndrome	Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Focal Dermal Hypoplasia	Hypoplasia of the iris, Umbilical hernia, Spina bifida, Microphthalmia	ORPHA:2092
Fetal Akinesia Deformation Sequence 1	Congenital contracture, Elbow contracture, Camptodactyly of finger, Depressed nasal tip, Cryptorc...	OMIM:208150
Oeis Complex	Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali...	OMIM:258040
Vici Syndrome	Depressed nasal bridge, Hypopigmentation of the fundus, Failure to thrive, Ocular albinism, Macul...	OMIM:242840
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hypogonadism, Hip contracture, Gait disturbance, Hydrocephalus, Flexion...	ORPHA:3042
Tetraamelia Syndrome 1	Choanal atresia, Absent external genitalia, Adrenal gland agenesis, Congenital diaphragmatic hern...	OMIM:273395
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Mosaic Variegated Aneuploidy Syndrome	Ascites, Increased nuchal translucency, Polyhydramnios, Microphthalmia	ORPHA:1052
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus, Decreased thalamic volume, Ataxia	ORPHA:168577
Campomelic Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Recurrent upper respiratory tract infections, Spin...	OMIM:114290
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Femoral-Facial Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Camptodactyly of finger, Inguinal hernia, Encephaloc...	OMIM:134780
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Neurofibromatosis, Type I	Pheochromocytoma, Overgrowth, Hydrocephalus, Parathyroid adenoma, Spina bifida, Aqueductal stenos...	OMIM:162200
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Cys...	ORPHA:322
Digeorge Syndrome	Parathyroid hypoplasia, Umbilical hernia, Obesity, Inguinal hernia, Recurrent sinusitis, Ovarian ...	OMIM:188400
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Ventriculomegaly	OMIM:300858
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Pseudoaminopterin Syndrome	Prominent nasal bridge, Inguinal hernia, Cryptorchidism, Hydrocephalus, Posterolateral diaphragma...	ORPHA:221120
Fraser Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:617666
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Cat Eye Syndrome	Umbilical hernia, Microphthalmia	OMIM:115470
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Incontinentia Pigmenti	Spina bifida occulta, Umbilical hernia, Microphthalmia	ORPHA:464
Isolated Posterior Meningocele	Difficulty walking, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neur...	ORPHA:268810
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasti...	OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Facial paralysis, Hypopigmentation of the fundus, Retinal arteriolar tortuosity, Ischemic stroke,...	OMIM:175780
Branchiooculofacial Syndrome	Anophthalmia, Microphthalmia	OMIM:113620
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis	OMIM:231005
Mowat-Wilson Syndrome	Wide nasal bridge, Abnormal enteric ganglion morphology, Ventriculomegaly, Chorioretinal coloboma...	OMIM:235730
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Truncus Arteriosus	Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Adrenocortical a...	ORPHA:3384
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Choanal atresia, Ventriculomegaly, Wide nasal bridge, Flared nostrils, Depressed...	ORPHA:480880
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Ring Chromosome 7 Syndrome	Wide nasal bridge, Ventriculomegaly, Narrow naris, Hypogonadism, Anteverted nares, Prominent nasa...	ORPHA:1449
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Depressed nasal bridge, Self-injurious behavior, Failure to thrive, Bulbous...	OMIM:612474
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Coffin-Lowry Syndrome	Ventriculomegaly, Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Mitral...	OMIM:303600
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Ventriculomegaly, Polymicrogyria, Encephalocele, Pulmon...	OMIM:100300
Craniofacial Microsomia 1	Tetralogy of Fallot, Microphthalmia, Anophthalmia, Ventricular septal defect	OMIM:164210
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform...	ORPHA:722
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Keloids, Ventriculomegaly, Failure to thrive, Camptodactyly of fin...	OMIM:309000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Hypertrophic cardiomyopathy, Mitral regurgitation, Attention deficit hypera...	ORPHA:363700
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Hydrocephalus, Camptodactyly, P...	OMIM:610168
Fryns Syndrome	Polyhydramnios, Chylothorax, Microphthalmia	OMIM:229850
Loeys-Dietz Syndrome 1	Inguinal hernia, Hydrocephalus, Camptodactyly, Patent ductus arteriosus, Disproportionate tall st...	OMIM:609192
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Anophthalmia, Microphthalmia	OMIM:309800
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Sotos Syndrome	Ankle flexion contracture, Ventriculomegaly, Umbilical hernia, Tall stature, Decreased fertility,...	ORPHA:821
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Ventriculomegaly, Uterus didelphys, Cryptorchidism, Agenesis of corpus ca...	ORPHA:93271
Roberts Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3103
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Polyhydramnios, Branchial cyst, Microphthalmia	OMIM:620186
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligohydramnios, Microphthalmia	OMIM:608670
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Lysinuric Protein Intolerance	Failure to thrive, Truncal obesity	OMIM:222700
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Ankle flexion contracture, Clitoral hypertrophy, Long penis, Underdeveloped na...	OMIM:268300
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Elbow contracture, Umbilical hernia, Cryptorchidism, Hydrocephalus, Ompha...	OMIM:304120
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypospadias, Ventriculomegaly, Recurrent upper respiratory tract infections, Umbilical hernia, Co...	OMIM:308205
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Microphthalmia	OMIM:613884
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	ORPHA:99125
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Oligohydramnios, Spina bifida occulta, Optic nerve hypo...	ORPHA:508488
Pallister-Hall Syndrome	Oligohydramnios, Umbilical hernia, Microphthalmia	ORPHA:672
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	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

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Bbs1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data