Genes Phenotypes Help, News, Blog

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

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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

View images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

21 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

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 (2202 diseases)

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

Disease	Matching phenotypes	Source
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves...	ORPHA:791
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Gait imbalance, Retinal dystrophy...	OMIM:209900
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Abnormality of the endocrine system, Hypoplasia of the ovary, Hy...	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	Microphthalmia, Anophthalmia	ORPHA:85275
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Obesity, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Lipedema	Edema	OMIM:614103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy	OMIM:603649
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Bardet-Biedl Syndrome 11	Retinopathy, Obesity	OMIM:615988
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen	OMIM:136550
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal blood vessel...	OMIM:616188
Cach Syndrome	Optic atrophy, T2 hypointense thalamus, Premature ovarian insufficiency, Irritability, Gonadal dy...	ORPHA:135
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, 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 dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Cone-Rod Dystrophy 22	Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels...	OMIM:619531
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Band Heterotopia	Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent...	OMIM:600348
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:609923
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	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	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Polymicrogyria, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis	OMIM:300982
Martsolf Syndrome 2	Decreased body weight, Camptodactyly, Camptodactyly of finger, Broad nasal tip, Lateral ventricle...	OMIM:619420
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Autism, Susceptibility To, X-Linked 6	Obesity, Underdeveloped nasal alae	OMIM:300872
Joubert Syndrome 3	Retinal dystrophy, Anteverted nares, Frontal polymicrogyria, Enlarged fossa interpeduncularis, At...	OMIM:608629
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Ventriculomegaly, Ataxia, Chorioretinal coloboma	ORPHA:2732
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia	OMIM:615524
Morm Syndrome	Retinal atrophy, Truncal obesity, Retinal dystrophy	ORPHA:75858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Hyperactivity, Hydrocephalus, Elbow flexion contracture, Simplif...	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, Flexion contracture of toe, Gait ataxia, Camptodactyly of finger, Inappropriate la...	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	Limb ataxia, Congenital contracture, Ataxia, Dysphagia, Lateral ventricle dilatation, Degeneratio...	OMIM:607596
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Polymicrogyria Due To Tubb2B Mutation	Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Attention deficit hyperactivit...	ORPHA:300573
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Abnormal upper motor neuron morphology, Gait disturbance, Disinhibition, ...	OMIM:221770
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Holoprosencephaly 5	Central diabetes insipidus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus,...	OMIM:609637
Leukoencephalopathy, Progressive, With Ovarian Failure	Depression, Premature ovarian insufficiency, Ataxia, Lateral ventricle dilatation	OMIM:615889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ataxia, Motor stereotypy, Attention deficit hyp...	OMIM:618709
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d...	OMIM:619517
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Ventriculomeg...	OMIM:604213
Hemiparkinsonism-Hemiatrophy Syndrome	Depression, Difficulty walking, Lateral ventricle dilatation, Bradykinesia	ORPHA:306669
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Obesity	OMIM:615983
Congenital Hydrocephalus	Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculo...	ORPHA:2185
Huntington Disease	Bradykinesia, Irritability, Agitation, Decreased body mass index, Difficulty walking, Gait imbala...	ORPHA:399
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Inability to walk, Anteverted nares, Dilated fourth ventricle, Lateral ventricle dila...	OMIM:613443
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Polyrrhinia	Abnormal nasal bone morphology, Abnormal external nose morphology, Abnormal third ventricle morph...	ORPHA:141091
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ...	OMIM:617406
Microcephaly 19, Primary, Autosomal Recessive	Decreased body weight, Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy...	OMIM:617800
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Tachycar...	OMIM:619737
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Autosomal Recessive Spastic Paraplegia Type 11	Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Inability to walk, Emot...	ORPHA:2822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Failure to thrive in infancy, Limb joint contracture, Simplified gyral...	ORPHA:284417
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Hernández-Aguirre Negrete Syndrome	Obesity, Bulbous nose	ORPHA:2139
Adams-Oliver Syndrome 2	Optic atrophy, Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Bulbous nose, Depress...	OMIM:614219
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Polymicrogyria, Increased CSF lactate, Abnormal CSF pyruvate family amino acid...	ORPHA:79243
Malan Overgrowth Syndrome	Tall stature, Optic disc hypoplasia, Episodic ataxia, Depressed nasal bridge, Lateral ventricle d...	ORPHA:420179
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Wide nasal br...	OMIM:614019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly...	OMIM:613154
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Hypospadias, Low hanging columella, Hyperactivity, Anteverted nares, Po...	OMIM:617751
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Dandy-Walker malformation, Hydrocephalus	ORPHA:1538
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Mehmo Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Difficulty walking, Inabi...	OMIM:300148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Lateral ventricle dilatation	OMIM:618890
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Anteverted nares, Lateral ventricle dilatation, Bulbous nose, Retinal pigment epithel...	OMIM:614105
Nephronophthisis 15	Retinal degeneration, Obesity	OMIM:614845
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Delayed early-childhood social milestone development, Lissencephaly, Ventriculomegaly, Periventri...	OMIM:618677
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Short nose, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle...	ORPHA:3078
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity	OMIM:300577
Pontocerebellar Hypoplasia, Type 12	Joint contracture, Lateral ventricle dilatation	OMIM:618266
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy, Obesity	OMIM:615982
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Glutamine Deficiency, Congenital	Short nose, Subependymal cysts, Decreased CSF glutamine concentration, Bradycardia, Anteverted na...	OMIM:610015
Bardet-Biedl Syndrome 7	Obesity, Rod-cone dystrophy, Depressed nasal bridge	OMIM:615984
Developmental And Epileptic Encephalopathy 36	Optic atrophy, Hydrocephalus, Anteverted nares, Flexion contracture, Self-mutilation	OMIM:300884
Bardet-Biedl Syndrome 16	Retinal degeneration, Rod-cone dystrophy, Obesity	OMIM:615993
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Hypospadias, Lateral ventricle dilatation, Patent ductus arteriosus	OMIM:618330
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Gombo Syndrome	Microphthalmia	OMIM:233270
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance, Retinopathy, Failure to thrive, Lethargy	ORPHA:26
Simpson-Golabi-Behmel Syndrome, Type 2	Ventriculomegaly, Obesity, Inguinal hernia, Recurrent upper respiratory tract infections	OMIM:300209
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho...	ORPHA:71526
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Agenesis of corpus callo...	OMIM:618736
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocit...	OMIM:617854
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Decreased nerve conduction velocity, Congenital foot contractures, Bradycardia, Inc...	ORPHA:565624
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio...	OMIM:620315
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Bardet-Biedl Syndrome 22	Large for gestational age, Macular hypopigmentation, Polyphagia, Obesity, Hypogonadism, Rod-cone ...	OMIM:617119
Bardet-Biedl Syndrome 2	Retinal degeneration, Rod-cone dystrophy, Obesity	OMIM:615981
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly	ORPHA:1084
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Lissencephaly 3	Ventriculomegaly, Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis o...	OMIM:611603
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Simplified gyral pattern, Lateral ventricle dilatation	OMIM:617668
Lissencephaly 1	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Ventric...	OMIM:607432
Spastic Paraplegia 88, Autosomal Dominant	Attention deficit hyperactivity disorder, Ventriculomegaly, Unsteady gait	OMIM:620106
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Inability to walk, Broad nasal tip, Lateral ventricle dilatation, Bruxism, Wide nasal...	OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Spastic gait, Tip-toe gait, Dilated third ventricle, Obesity, Lateral vent...	OMIM:617296
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Ventriculomegaly, Aggressive behavior	OMIM:612691
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Multiple Mitochondrial Dysfunctions Syndrome 5	Ventriculomegaly, Pigmentary retinopathy, Pachygyria	OMIM:617613
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Arthrogryposis multiplex cong...	OMIM:618291
Pineocytoma	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251912
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Pal...	ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertension, Polyph...	ORPHA:71529
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Inability to walk, Emotional lability, Polymicrogyria, Type II lis...	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	Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy	OMIM:610156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Type II lissencephaly, Retinal dysplasia	OMIM:614830
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy	OMIM:601553
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Irritability, Ataxia	ORPHA:99966
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Agitation, Maturity-onset diabetes of the young, Hyperinsulinemic hypo...	ORPHA:324575
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion, Depression, Emotional lability, Pigmentary retinopathy, Lo...	ORPHA:79264
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Secondary amenorrhea, Unsteady gait, Primary amenorrhea, Ventriculomegaly	OMIM:620314
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Alg13-Cdg	Anteverted nares, Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Bardet-Biedl Syndrome 19	External genital hypoplasia, Hyposmia, Cone/cone-rod dystrophy, Obesity, Hypogonadism, Patent duc...	OMIM:615996
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
11P15.4 Microduplication Syndrome	Anteverted nares, Obesity	ORPHA:300305
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Emotional lability, Pitui...	OMIM:614963
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Macrocephaly, Acquired, With Impaired Intellectual Development	Narrow nasal bridge, Anteverted nares, Impulsivity, Unilateral cryptorchidism, Agenesis of corpus...	OMIM:618286
Pseudo-Torch Syndrome 2	Bradycardia, Polymicrogyria, Gray matter heterotopia, Cerebral hemorrhage, Lateral ventricle dila...	OMIM:617397
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Lateral ventricle dilatation	ORPHA:77299
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Hydrocephalus, Self-mutilation, Polyphagia, Obesity, Wide nasal bridge, Aggressi...	OMIM:616521
Alg2-Cdg	Wide nasal bridge, Lateral ventricle dilatation	ORPHA:79326
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Azoospermia, Hyposmia, Hypergonadotropic hypogonadism, Dec...	OMIM:613724
Fried Syndrome	Hydrocephalus, Gait disturbance, Abnormal optic nerve morphology, Aggressive behavior	ORPHA:85335
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Oliver-Mcfarlane Syndrome	Retinal degeneration, Small for gestational age, Pigmentary retinopathy	OMIM:275400
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ventriculomegaly, Ataxia, Simplified gyral pattern	OMIM:613402
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Inability to walk, Hydrocephalus, Delayed early-childhood social milestone develop...	OMIM:618174
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula...	OMIM:608161
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Ven...	ORPHA:1083
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyp...	ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la...	ORPHA:179494
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia, Hydrocephalus, Type II lissencephaly, Gait disturbance, Camptod...	ORPHA:272
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor...	ORPHA:250972
Pontocerebellar Hypoplasia, Type 13	Inability to walk, Anteverted nares, Dandy-Walker malformation, Gait ataxia, Failure to thrive, L...	OMIM:618606
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Short nose, Irritability, Retinal detachment, Hydrocephalus, Failure to thrive, Co...	OMIM:619833
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Athetosis, Cardiomyopathy, Dilated fourth ventricle, Ataxia, Dysphagia, Later...	ORPHA:572798
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Hydrocephalus, Type II lissencephaly, Agyria, Dandy-Walker malformation, Simp...	OMIM:613153
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy	OMIM:611809
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Macular degeneration, Obesity, Ataxia, Dysphagia, Agenesis of corpus ...	OMIM:604360
Craniotelencephalic Dysplasia	Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Lissencephaly, ...	ORPHA:1528
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Obesity, Broad nasal tip, Failure to thrive in infancy	OMIM:613670
Yoon-Bellen Neurodevelopmental Syndrome	Optic atrophy, Inability to walk, Failure to thrive, Ataxia, Ventriculomegaly	OMIM:619701
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Dilated third ventricle, Scissor gait, Lateral ventricle dilatation	ORPHA:363654
Masa Syndrome	Camptodactyly of finger, Ventriculomegaly, Gait disturbance, Agenesis of corpus callosum	ORPHA:2466
Optic Atrophy 16	Paroxysmal tachycardia, Temporal optic disc pallor	OMIM:620629
Microcephaly 17, Primary, Autosomal Recessive	Delayed early-childhood social milestone development, Microlissencephaly, Failure to thrive, Simp...	OMIM:617090
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Irritability, Agitation, Agyria, Flexion contracture, Pachygyria, Lateral ventricle dilatation, D...	ORPHA:2148
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary ame...	OMIM:614962
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Bulbous nose, Truncal obesity	ORPHA:261483
Bilateral Generalized Polymicrogyria	Oral-pharyngeal dysphagia, Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation	ORPHA:208447
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matt...	ORPHA:352682
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Impuls...	OMIM:618914
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Impulsivity, Hypogonadism, Hypothalamic luteinizing...	ORPHA:398069
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation of retinal bl...	OMIM:613464
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
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	Hydrocephalus, Hypertension, Agenesis of corpus callosum	OMIM:166990
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Delayed early-childhood social milestone development, Simplified gyral pattern, Ag...	OMIM:619302
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Bowen-Conradi Syndrome	Prominent nose, Camptodactyly of finger, Ventriculomegaly, Cryptorchidism	ORPHA:1270
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Simplified gyral pattern, Agenesis of corpus callosum, Lateral ventricle...	OMIM:619244
Temple Syndrome	Decreased response to growth hormone stimulation test, Hydrocephalus, Polyphagia, Precocious pube...	ORPHA:254516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Retinal dysplasia, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	ORPHA:324416
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Compulsive behaviors	ORPHA:500166
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Abnormal na...	ORPHA:54595
48,Xxyy Syndrome	Tall stature, Inguinal hernia, Azoospermia, Depression, Abnormal dental enamel morphology, Hypopl...	ORPHA:10
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Inability to walk, Retinal dystrophy, Broad-based gait, Waddling gait, Obesity, Ataxia	OMIM:616756
Bardet-Biedl Syndrome 17	Polydipsia, Bone spicule pigmentation of the retina, Hyposmia, Anosmia, Cone/cone-rod dystrophy, ...	OMIM:615994
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy	OMIM:602271
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:171703
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Aicardi Syndrome	Optic atrophy, Lipoma, Retinal detachment, Anteverted nares, Polymicrogyria, Dandy-Walker malform...	OMIM:304050
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Delayed early-childhood social milestone development, Simplified gyral pattern, Ag...	OMIM:619301
Diencephalic Syndrome	Optic atrophy, Long penis, Hydrocephalus, Cachexia, Decreased body weight, Abnormality of the hyp...	ORPHA:1672
Peho-Like Syndrome	Optic atrophy, Short nose, Polymicrogyria, Pachygyria, Lissencephaly, Ventriculomegaly	OMIM:617507
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia	OMIM:613885
Bardet-Biedl Syndrome 9	Polydipsia, Bone spicule pigmentation of the retina, Truncal obesity, Polyphagia, Obesity, Attenu...	OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Increased body weight, Tachycardia, Hyperinsulinemic hypoglycemia, P...	ORPHA:276608
Aicardi-Goutieres Syndrome 9	Optic atrophy, Irritability, Increased blood pressure, Chorioretinal atrophy, Hypertension, Porta...	OMIM:619487
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism, Failure to thrive, Attention deficit hyperactivity di...	ORPHA:250994
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure ...	OMIM:616034
Macular Degeneration, Age-Related, 3	Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization	OMIM:608895
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Retinal degeneration, Small for gestational age, Pigmentary retinopathy	ORPHA:3363
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Wide nose, Gait ataxia, Depressed nasal br...	ORPHA:488635
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:98793
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Gait disturbance, Failure to thri...	ORPHA:488627
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Meningioma	Impotence, Decreased circulating cortisol level, Ataxia, Abnormal hypothalamus physiology, Focal ...	ORPHA:2495
Nanophthalmos	Microphthalmia	ORPHA:35612
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis of corpus callosum	OMIM:619501
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:98754
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Optic nerve hypoplasia, A...	ORPHA:3157
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hypospadias, Emotional lability, Polymicrogyria, Hyperactivity, Cryptorchidism, ...	OMIM:300354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:177904
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Polymicrogyria, Ventriculomegaly, Pachygyria, Lissencephaly	OMIM:618730
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 Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:177901
Kleine-Levin Syndrome	Polydipsia, Irritability, Agitation, Abnormal eating behavior, Depression, Decreased libido, Poly...	ORPHA:33543
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Microcephaly 5, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Ventriculomegaly, Simplified gyral pattern, Agenesis of...	OMIM:608716
Slc35A2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Inability to walk, Dandy-Walker m...	ORPHA:356961
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hypertrophic cardiomyopathy, Obesity, Ataxia, Aggressive behavior	OMIM:620270
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Aortic regurgitation, Cardiomyopathy, Elevated CSF D-2-hydroxyglutaric acid c...	OMIM:600721
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Hypotension, Abnormal autonomic nervous system physiology, Polyphagia, Obesity,...	ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Shuffling gait, Agenesis of corpus callosum	OMIM:303350
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad...	OMIM:146110
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Agitation, Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system phy...	OMIM:613870
47,Xyy Syndrome	Congenital stationary night blindness, Male infertility, Tall stature, Increased serum testostero...	ORPHA:8
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, Hydrocephalus, Type II lissencephaly, Gray matter heterot...	OMIM:615191
Epilepsy, Progressive Myoclonic, 9	Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum, Gait ataxia	OMIM:616540
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Ataxia, Lethargy	ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Wide nasal bridge, Pachygyria	OMIM:614870
Anencephaly 2	Anophthalmia	OMIM:619452
Hsd10 Disease	Optic atrophy, Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Ventriculomegaly, C...	ORPHA:391417
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Reduced social reciprocity, Aggressive behavior	ORPHA:329249
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Large for gestational age, Inguinal hernia, Dilated third ventricle, ...	ORPHA:544488
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Facial palsy, Lateral ventricle dilatation	OMIM:256850
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Anosmia, Increased CSF protein concentration, Ataxia, A...	OMIM:266500
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Luscan-Lumish Syndrome	Long nose, Overgrowth, Polyphagia, Excessive shyness, Obesity, Ventriculomegaly, Polycystic ovari...	OMIM:616831
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Inguinal hernia, Lateral ventricle dilatation	ORPHA:85290
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ventriculomegaly, Ataxia, Dysphagia	OMIM:613925
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Spastic gait, Ventriculomegaly, Ataxia, Inability to walk	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	Inability to walk, Retinal dystrophy, Hydrocephalus, Cardiomyopathy, Facial palsy, Flexion contra...	OMIM:613155
Developmental And Epileptic Encephalopathy 97	Ventriculomegaly, Inability to walk, Stereotypical hand wringing	OMIM:619561
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Lateral ventricle dilatation, Self-injurious behavior, Depressed nasal bridge, Agg...	OMIM:620075
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Azoospermia, Infertility, Oligozoospermia, Hypertension, Obesity, Type ...	OMIM:615703
Immunodeficiency 61	Obesity, Recurrent sinusitis	OMIM:300310
Joubert Syndrome 10	Decreased body weight, Polyphagia, Frequent temper tantrums, Obesity, Rod-cone dystrophy, Wide na...	OMIM:300804
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Inability to walk by childhood/adolescence, Steppage gait, Hydrocephalus, Restless...	ORPHA:99947
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Hydrocephalus, Undetectable visual evoked potentials, Dandy-Walker malformation, Thic...	ORPHA:163961
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Beemer Lethal Malformation Syndrome	Hydrocephalus, Ambiguous genitalia, Wide nasal bridge	OMIM:209970
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Agitation, Inability to walk, Decreased body weight, Stereotypical hand ...	OMIM:619229
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Short nose, Inability to wal...	OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Ventriculome...	OMIM:617862
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Hypospadias, Retinal dystrophy, Meningocele, Dandy-Walker malformation, ...	ORPHA:397715
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Small for gestational age, Hydranencephaly, Retinal detachment, Ante...	OMIM:620371
Prader-Willi Syndrome Due To Translocation	Head-banging, Lateral ventricle dilatation, Decreased response to growth hormone stimulation test...	ORPHA:177907
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Histiocytoid Cardiomyopathy	Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hydrocep...	ORPHA:137675
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev...	OMIM:228300
Narp Syndrome	Irritability, Retinal pigment epithelial mottling, Ataxia, Progressive gait ataxia, Ventriculomeg...	ORPHA:644
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Distal Deletion 10Q	Short nose, Spina bifida occulta, Facial diplegia, Attention deficit hyperactivity disorder, Fail...	ORPHA:96148
Craniosynostosis 6	Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d...	OMIM:616602
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity, Anosmia	OMIM:619755
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of connective tissue, Facial palsy, Cryptorchidism, Loss of ambulation, Ventriculomeg...	ORPHA:370968
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,...	OMIM:615219
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Abnormal temper tantrums, Low frustration tolerance, Contracture of the proximal inte...	ORPHA:457279
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Temple Syndrome	Maturity-onset diabetes of the young, Wide nose, Hydrocephalus, Anteverted nares, Precocious pube...	OMIM:616222
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Irritability, Inability to walk, Athetosis, Hypertrophic cardiomyopathy, Gait dist...	OMIM:618241
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp...	ORPHA:2183
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Chorioretinal atrophy, Truncal ataxia, Dilated fourth v...	OMIM:220220
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Biemond Syndrome Type 2	Delayed puberty, Hypospadias, Hydrocephalus, Obesity, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Wide nose, Low insertion of columella, Broad nasal tip, Lateral ventricle dilatation, ...	OMIM:619995
Chromosome 3Q29 Duplication Syndrome	Short nose, Obesity, Bulbous nose, Wide nasal bridge	OMIM:611936
Summitt Syndrome	Depressed nasal ridge, Tall stature, Obesity, Wide nose	ORPHA:3210
Spastic Paraplegia 47, Autosomal Recessive	Inability to walk, Waddling gait, Excessive shyness, Overweight, Flexion contracture, Ventriculom...	OMIM:614066
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Obesity, Bulbous nose	OMIM:300238
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Ataxia, Arrhythmia, Ventricular preexcitation, Retinal vas...	ORPHA:104
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Retinal detachment, Polymicrogyria, Type II lissencephaly...	ORPHA:370959
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:613660
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Microcephaly-Cardiomyopathy Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Abnormality of retinal pigmentation	ORPHA:2515
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Perisylvia...	ORPHA:739
Trisomy 5P	Ventriculomegaly, Obesity, Hypoplasia of penis	ORPHA:1742
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Depression, Adrenal medullary hypoplasia, Hydrocephalus	OMIM:248000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Inappropriate laughter, Ataxia, Motor stereotypy, Ventriculomegaly, Bruxism, Aggressive be...	OMIM:619150
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tantrums, Failure to thrive...	OMIM:619575
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Steppage gait, Anosmia, Abnormality of visual evoked potentials, Decreased motor n...	OMIM:601152
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Failure to thrive, Ventr...	OMIM:300952
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Dysphagia, Lateral ventricle dilatation, Cryptorchidism, Micropenis, Small for gestational age	OMIM:619847
Idiopathic Intracranial Hypertension	Abnormal emotion, Depression, Focal sensory seizure with olfactory features, Papilledema, Obesity...	ORPHA:238624
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Trimethylaminuria	Depression, Hypertension, Tachycardia	OMIM:602079
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia, Cryptorchidism, Decreased testicular size, Absence of pubertal development, Ob...	OMIM:610628
Weaver Syndrome	Patent ductus arteriosus, Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Hydrocele testi...	OMIM:277590
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Hemimegalencephaly	Optic atrophy, Polymicrogyria, Gray matter heterotopia, Abnormal neuron morphology, Pachygyria, V...	ORPHA:99802
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Ventriculomegaly, Cryptorchidism, Inguinal hernia	ORPHA:1568
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Polyphagia, Spina bifida, Obesity, Overfriendliness, Attention deficit hyperactivit...	OMIM:620439
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Schaaf-Yang Syndrome	Inability to walk, Polyphagia, Camptodactyly, Cryptorchidism, Impulsivity, Obesity, Skin-picking,...	OMIM:615547
Bardet-Biedl Syndrome 8	Obesity, Rod-cone dystrophy	OMIM:615985
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy	ORPHA:858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry...	ORPHA:3055
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Obesity, Overweight	OMIM:614651
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le...	ORPHA:300373
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Overgrowth, Ventriculomegaly, Hernia, Depressed nasal bridge	OMIM:602501
Frontotemporal Dementia	Irritability, Polyphagia, Inappropriate laughter, Disinhibition, Amyotrophic lateral sclerosis	OMIM:600274
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Hyposmia, Anosmia, Polyphagia, Obesity, Increased serum leptin	OMIM:617885
Bardet-Biedl Syndrome 3	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Hyposmia, Decreased circulating luteinizing hormone level, Decreased circulating fol...	OMIM:308700
Basel-Vanagaite-Smirin-Yosef Syndrome	Difficulty walking, Hypospadias, Inguinal hernia, Inability to walk, Anteverted nares, Prominent ...	ORPHA:464738
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Choanal atresia, Abnormality of the sense of smell, Hypogonadotropic hypogonadis...	ORPHA:1135
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Abnormal optic disc morphology, Aortic valve sten...	ORPHA:96121
Laurence-Moon Syndrome	Chorioretinal atrophy, Obesity, Pigmentary retinopathy	OMIM:245800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Lateral ventricle dilatation, Repetitive compulsive behavio...	OMIM:607485
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Walker-Warburg Syndrome	Optic atrophy, Abnormal cortical gyration, Retinal dysplasia, Retinal dystrophy, Retinal detachme...	ORPHA:899
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Intellectual Developmental Disorder, X-Linked 12	Depression, Gait disturbance, Microphallus, Abnormality of neuronal migration, Ventriculomegaly, ...	OMIM:300957
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Patent ductus arteriosus, Hydrocephalus, Anteverted nares, Tricuspi...	OMIM:612863
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Rod-cone dystrophy, Wide nasal bridge, Neonatal death	OMIM:610127
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Patent ductus arteriosus, Hypospadias, Hydrocephalus, Anteverted nares, Obesity, Umbi...	ORPHA:171839
Lissencephaly 8	Optic atrophy, Occipital encephalocele, Delayed early-childhood social milestone development, Pol...	OMIM:617255
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Lissencephaly Due To Tuba1A Mutation	Dysplastic corpus callosum, Aganglionic megacolon, Polymicrogyria, Optic nerve hypoplasia, Agyria...	ORPHA:171680
Atkin-Flaitz Syndrome	Anteverted nares, Obesity, Broad nasal tip	ORPHA:1193
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration, Abnormal mitochondrial morphology	OMIM:300438
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Dysphagia, Lateral ventricle dilatation, Heart murmur, Ventriculomegaly, Bruxism, ...	OMIM:615873
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Ataxia	ORPHA:411515
Cog5-Cdg	Truncal ataxia, Camptodactyly of finger, Lateral ventricle dilatation, Prominent nose, Cryptorchi...	ORPHA:263487
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Small for gestational age, Lateral ventricle dilatation	OMIM:619278
Clark-Baraitser Syndrome	Short nose, Low hanging columella, Anteverted nares, Obesity, Depressed nasal bridge	OMIM:617752
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Insulinoma	Hyperinsulinemia, Palpitations, Neoplasm of the adrenal gland, Increased body weight, Polyphagia,...	ORPHA:97279
Rafiq Syndrome	Underdeveloped nasolabial fold, Wide nose, Obesity, Prominent nose, Bulbous nose, Truncal obesity...	OMIM:614202
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hydr...	OMIM:245200
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Choreoathetosis, Lateral ventricle dilatation	OMIM:231670
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Broad-based gait, Anteverted nares, Polyphagia, Obesity, Bulbous nose, ...	ORPHA:171829
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Geographic atrophy, Abnormal auditory evoked potentials, Attenuation of retinal...	OMIM:619260
Graves Disease	Increased circulating free T3, Irritability, Decreased thyroid-stimulating hormone level, Congest...	OMIM:275000
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Hypogonadotropic hypogonadism	OMIM:615266
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Limb ataxia, Partial anosmia, Enlarged sylvian cister...	ORPHA:247245
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly, Ataxia, Inability to walk, Self-injurious behavior	OMIM:617904
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Optic atrophy, Maternal diabetes, Retinal dystrophy, Wide nose, Dilated fourth ventricle, Simplif...	OMIM:620428
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Ventriculomegaly, Aggressive beh...	OMIM:301107
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Wide nasal bridge,...	ORPHA:261229
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Holoprosencephaly	Congenital diaphragmatic hernia, Hypoplasia of penis, Anosmia, Retinopathy, Absent nares, Optic a...	ORPHA:2162
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital stationary night blindness, Obesity, Wide nasal bridge	ORPHA:352530
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Aggressive behavior, ...	ORPHA:404443
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Hydrocephalus, Polymicrogyria, Cerebral ischemia, Failure to thrive, Telangiectasi...	ORPHA:60040
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Dysdiadochokinesis, Progress...	ORPHA:363429
Coproporphyria, Hereditary	Depression, Hypertension, Tachycardia	OMIM:121300
Young-Onset Parkinson Disease	Bradykinesia, Agitation, Gait imbalance, Hyposmia, Depression, Abnormal autonomic nervous system ...	ORPHA:2828
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Joubert Syndrome 30	Retinal dystrophy, Polymicrogyria, Dandy-Walker malformation, Gray matter heterotopia, Agenesis o...	OMIM:617622
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Juvenile Huntington Disease	Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Hyperact...	ORPHA:248111
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Type II lissencephaly, Agyria, Flexion contracture, Agenesis of corpus callosum, L...	OMIM:615249
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Hyposmia, Anosmia, Choanal atresia, Agenesis of corpus callosum, Primary amenorr...	OMIM:147950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Congestive heart failure, Abnormal fear-induced behavior, Broad-based gai...	ORPHA:3077
Nasu-Hakola Disease	Irritability, Abnormal adipose tissue morphology, Hydrocephalus, Disinhibition, Ventriculomegaly	ORPHA:2770
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Narrow nasal bridge, Decreased serum leptin, Lack of facial subcutaneo...	OMIM:614098
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Adiposis Dolorosa	Obesity	OMIM:103200
Hydrolethalus	Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Agenesis of corpus callosum, Abno...	ORPHA:2189
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Polymicrogyria, Elbow flexion contracture, Omphalocele, Camptoda...	ORPHA:1692
Obesity And Hypopigmentation	Obesity, Overgrowth	OMIM:620195
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal preputium morphology, Glandular hypospadias, Prominent nasal tip, Choroid plexus cyst, T...	ORPHA:293725
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Hypertrophic cardiomyopathy, Failure to thrive, Ataxia, Ventriculomegaly, Lethargy...	OMIM:618228
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Agitation, Ataxia, Self-injurious behavior, Ventriculomegaly, Aggressi...	OMIM:616116
Gómez-López-Hernández Syndrome	Hydrocephalus, Anteverted nares, Ataxia	ORPHA:1532
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Difficulty walking, Facial diplegia, Gray matter heterotopia, Achilles tendon contr...	ORPHA:370980
Smith-Magenis Syndrome	Delayed puberty, Short nose, Retinal detachment, Anteverted nares, Gait disturbance, Hypothyroidi...	ORPHA:819
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Anosmia, Total anosmia, Ataxia, Rod-cone dystrophy	OMIM:614879
Pick Disease Of Brain	Irritability, Emotional blunting, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo...	OMIM:172700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Polymicrogyria, Type II lissencephaly, Optic nerve hypoplasia, Hydrocephalus	OMIM:615181
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Retinopathy, Prominent nose, Macular atrophy, Optic disc pallor	OMIM:616171
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Depressed nasal bridge	ORPHA:444002
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Irritability, Polymicrogyria, Increased CSF lactate, Increased CSF glycine concent...	OMIM:615330
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Aganglionic megacolon, Partial agenesis of the corpus callosum	OMIM:304100
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Semilobar holoprosencephaly, Inability to walk, I...	OMIM:618651
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Irritability, Choking episodes, Failure to thrive, Colpocephaly, Agenesis of corpu...	OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Encephalocele, Retinal detachment, Polymicrogyria, Type II lissencephaly, Agyr...	OMIM:614643
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Retinal dystrophy, Obesity, Prominent nasal bridge, Rod-cone dystrophy	ORPHA:261222
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Anteverted nares, Camptodactyly, Lateral ventricle dilatation, Failure to thrive in ...	OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Inability to walk, Facial palsy, Flexion contracture, Vent...	OMIM:613156
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Narcolepsy Type 1	Depression, Hypertension, Precocious puberty, Male sexual dysfunction, Obesity, Restless legs, At...	ORPHA:2073
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity, Prominent nose, Ven...	ORPHA:137831
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Increased CSF protein concentration, CSF pleocytosis...	OMIM:603472
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Camptodactyly of finger, Short nose, Ventriculomegaly	ORPHA:1495
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Depression, Emotional lability, Gait ataxia, Ataxia, Ventriculomegaly	OMIM:615362
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Angelman Syndrome	Optic atrophy, Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperactivity, ...	ORPHA:72
Bilateral Striopallidodentate Calcinosis	Ventriculomegaly, Abnormality of neuronal migration	ORPHA:1980
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Difficulty walking, Hydrocephalus, Dandy-Walker malformation, Inappropriate laught...	OMIM:618476
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Hyposmia, Decreased circulating luteinizing hormone level, Decreased circulating fol...	OMIM:614897
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Hyperactivity, Failure to thrive, Agenesis...	OMIM:615286
Trisomy 13	Atrial septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular s...	ORPHA:3378
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteriosus, Attention deficit hyper...	ORPHA:261102
Peripartum Cardiomyopathy	Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul...	ORPHA:563
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d...	ORPHA:45452
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Ventriculomegaly, Slender build, Aggressive behavior	OMIM:300699
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Inability to walk, Polymicrogyria, Stereotypical hand wringing, Inappropriate laughter, Self-inju...	OMIM:614254
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Broad-based gait, Emotional lability, Telangiectases producing 'marbled' skin, Hypertension, Atax...	OMIM:206570
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Cone-Rod Dystrophy 21	Macular atrophy, Retinal dystrophy	OMIM:616502
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Hydrocephalus, Anteverted nares, Agenesis of c...	OMIM:618577
Chromosome 1P36 Deletion Syndrome, Distal	Dysphagia, Lateral ventricle dilatation, Aggressive behavior, Optic atrophy, Hypospadias, Hydroce...	OMIM:607872
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Xq12-Q13.3 Duplication Syndrome	Agitation, Abnormality of visual evoked potentials, Depressed nasal bridge, Decreased serum insul...	ORPHA:314389
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Prader-Willi Syndrome Due To Imprinting Mutation	Obesity, External genital hypoplasia, Polyphagia, Hypogonadotropic hypogonadism	ORPHA:177910
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Anorexia, Retinal dystrophy, Cardiac arrest, Paroxysmal ...	ORPHA:49827
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Dandy-Walker Syndrome	Hydrocephalus, Truncal ataxia, Dilated fourth ventricle	OMIM:220200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Truncal obesity	ORPHA:2429
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Anteverted nares, Obesity, Broad nasal tip, Bulbous nose, Depressed nasal bridge	ORPHA:480907
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Decreased nerve conduction velocity, Gait disturbance, Camptodac...	ORPHA:2928
Man1B1-Cdg	Underdeveloped nasolabial fold, Wide nose, Broad-based gait, Polyphagia, Prominent nose, Perivent...	ORPHA:397941
Kallmann Syndrome	Delayed puberty, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of penis, Hyposmia, D...	ORPHA:478
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Pettigrew Syndrome	Optic atrophy, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Stereotypical hand ...	OMIM:304340
Intellectual Developmental Disorder, Autosomal Recessive 69	Ventriculomegaly, Ataxia	OMIM:618383
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Irritability, Hypospadias, Increased CSF lactate, Loss of ambulation, Simplified g...	OMIM:618253
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
X-Linked Intellectual Disability, Stevenson Type	Broad columella, Thick nasal alae, Obesity, Tall stature	ORPHA:85325
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Bradykinesia, Emotional lability, Bruxism, Shuffling gait, Wrist flexion contractur...	OMIM:300055
Wilson-Turner Syndrome	Broad nasal tip, Truncal obesity	ORPHA:3459
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:397951
Senior-Loken Syndrome 9	Macular degeneration, Obesity, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
X-Linked Intellectual Disability, Shashi Type	Obesity, Bulbous nose	ORPHA:85286
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose, Obesity	OMIM:619854
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly, Retinal degeneration, Obesity	OMIM:615630
Cebalid Syndrome	Congenital diaphragmatic hernia, Short nose, Anteverted nares, Polymicrogyria, Polyphagia, Depres...	OMIM:618774
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchid...	OMIM:261550
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Prominent nasal bridge, Lat...	OMIM:619745
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Acalvaria	Hydrocephalus, Spina bifida, Omphalocele, Abnormality of neuronal migration, Holoprosencephaly	ORPHA:945
Prader-Willi Syndrome	Delayed puberty, Small scrotum, Ventriculomegaly, Adrenal insufficiency, Decreased response to gr...	OMIM:176270
16P12.1P12.3 Triplication Syndrome	Short nose, Decreased response to growth hormone stimulation test, Nail-biting, Hyperactivity, Bi...	ORPHA:485405
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Encephalocele, Retinal detachment, Polymicrogyria, Type II liss...	OMIM:253800
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Facial palsy, Polyphagia, Hypergonadotropi...	OMIM:606407
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o...	ORPHA:261529
Gabriele-De Vries Syndrome	Tip-toe gait, Waddling gait, Broad nasal tip, Distal arthrogryposis, Lateral ventricle dilatation...	OMIM:617557
Pontocerebellar Hypoplasia, Type 9	Optic atrophy, Irritability, Delayed early-childhood social milestone development, Dysphagia, Ven...	OMIM:615809
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Retinal dystrophy, Waddling gait, Obesity, Ataxia, Unsteady gait, Puberty and...	ORPHA:464282
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia, Wi...	ORPHA:380
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Hyposmia, Anosmia, Primary amenorrhea, Cryptorchidism, Mi...	OMIM:612702
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Spastic gait, Loss of ambulation, Ventriculomegaly, Dysmetria	OMIM:616680
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal telangiectasia, Low hanging columella, Retinal detachment, Optic nerve hypoplasia, Hydroc...	OMIM:620157
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Failure to thrive, Lateral ventricle dilatation, Patent ductus arterios...	OMIM:619869
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Irritability, Congestive h...	ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iiy	Ventriculomegaly, Agenesis of corpus callosum	OMIM:620200
Autosomal Recessive Spastic Paraplegia Type 66	Spastic gait, Difficulty walking, Colpocephaly	ORPHA:401815
Pierpont Syndrome	Abnormal subcutaneous fat tissue distribution, Abnormal cortical gyration, Wide nasal ridge, Vent...	ORPHA:487825
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Irritability, Aortic regurgitation, Inguinal hernia, Hypoplasia of penis, Depression,...	ORPHA:96147
Christianson Syndrome	Abnormality of the nose, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia...	ORPHA:85278
Bonnemann-Meinecke-Reich Syndrome	Ventriculomegaly, Decreased response to growth hormone stimulation test	ORPHA:1261
Refsum Disease	Heart block, Cardiomyopathy, Anosmia, Retinopathy, Abnormality of retinal pigmentation, Ataxia	ORPHA:773
17P13.3 Microduplication Syndrome	Short nose, Tall stature, Wide nose, Hypoplasia of penis, Inguinal hernia, Ventriculomegaly	ORPHA:217385
Chung-Jansen Syndrome	Anteverted nares, Short nose, Obesity	OMIM:617991
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:77298
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Hydrocephalus, Dilated third ventricle, Imp...	ORPHA:500055
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Retinal dystrophy, Encephalocele, Hydrocephalus, Anteverted nares, Polymic...	ORPHA:220493
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Optic atrophy, Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Agenesis o...	OMIM:617669
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Optic disc hypoplasia, Colpocephaly, Agenesis of corpus callosum, Dep...	OMIM:619955
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Short nose, Congestive heart failure, Inability to walk, Hydrocephalus, Pulmonary ...	ORPHA:505248
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Hydrocephalus, Gait disturbance, Failure t...	OMIM:609757
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Umbilical hernia, Patent ductus arteriosus, Wide nasal bridge, Underdeveloped nasa...	ORPHA:1516
Coach Syndrome 2	Hydrocephalus, Hypertension, Chorioretinal coloboma, Agenesis of corpus callosum	OMIM:619111
Cornelia De Lange Syndrome 5	Truncal obesity, Anteverted nares, Decreased testicular size, Prominent nasal bridge, Broad nasal...	OMIM:300882
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Retinal coloboma, Reduced social...	OMIM:619775
Snakebite Envenomation	Tachycardia, Hypotension, Cerebral ischemia, Neuromuscular dysphagia, Cardiogenic shock, Epistaxi...	ORPHA:449285
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal autonomic ne...	ORPHA:2388
Radio-Tartaglia Syndrome	Gait imbalance, Anteverted nares, Prominent nasal tip, Gray matter heterotopia, Impulsivity, Prec...	OMIM:619312
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Anteverted nares, Obesity, Prominent nose, Bulbous nose, Wide nasal bridge, Depressed nasal bridge	ORPHA:2180
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Inguinal hernia, Depression, Hyperactivity, Compulsive behaviors, ...	ORPHA:485350
Variegate Porphyria	Tachycardia	OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Microhydranencephaly	Hydranencephaly, Athetosis, Prominent nasal bridge, Agenesis of corpus callosum, Pachygyria, Vent...	OMIM:605013
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Lissencephaly 6 With Microcephaly	Anteverted nares, Microlissencephaly, Polymicrogyria, Simplified gyral pattern, Pachygyria, Lisse...	OMIM:616212
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Abnormal nasal morphology, Mitral regurgitation, Depressed nasal b...	ORPHA:83473
19P13.12 Microdeletion Syndrome	Self-injurious behavior, Hypospadias, Aortic regurgitation, Narrow nasal bridge, Hyperactivity, A...	ORPHA:254346
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia, Delayed puberty	OMIM:615271
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Decreased fertility, Reduced circulati...	ORPHA:2235
Clark-Baraitser syndrome	Anteverted nares, Tall stature, Broad nasal tip, Obesity	OMIM:300602
Alexander Disease Type I	Abnormal thalamic MRI signal intensity, Hydrocephalus, Cachexia, Failure to thrive, Ataxia, Dysph...	ORPHA:363717
Baraitser-Winter Syndrome 1	Short nose, Patent ductus arteriosus, Anteverted nares, Aortic valve stenosis, Failure to thrive,...	OMIM:243310
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Perisylvian polymicrogyria, Knee flexion contracture, Ventr...	OMIM:616531
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Irritability, Gait ataxia, Ataxia, Tachycardia, Ventriculomegaly, Dilated cardiomyopathy, Letharg...	OMIM:618321
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly, Obesity	ORPHA:521390
Mehmo Syndrome	Agitation, External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Obesity, Cryptorc...	ORPHA:85282
49,Xxxyy Syndrome	Increased circulating gonadotropin level, External genital hypoplasia, Ambiguous genitalia, Low f...	ORPHA:261534
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Retinal detachment, Hyperactivity, Head-banging, Increased bo...	OMIM:182290
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Increased CSF lactate, Episodic ataxia, Agenesis of corpus cal...	OMIM:312170
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hydrocephalus, Optic nerve compression, Lateral ventricle dilatation	OMIM:612301
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Anteverted nares, Colpocephaly, Polymicrogyria	OMIM:618731
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Overgrowth, Self-injurious behavior, Ventriculomegaly	OMIM:613638
Mmep Syndrome	Microphthalmia	ORPHA:3434
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves...	ORPHA:791
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Tall stature, Aortic regurgitation, Hydrocephalus, Gait disturbance, Disproportionate tall statur...	ORPHA:2181
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ...	ORPHA:163681
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
White-Sutton Syndrome	Congenital diaphragmatic hernia, Irritability, Hyperactivity, Optic nerve hypoplasia, Waddling ga...	OMIM:616364
Sjogren-Larsson Syndrome	Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia...	OMIM:270200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior...	ORPHA:228402
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Finger joint contracture, Ataxia, Ventriculomegaly, Abnormality of pe...	ORPHA:48431
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus, Omphalocele	OMIM:258320
49,Xyyyy Syndrome	Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Low frustrati...	ORPHA:99330
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Increased body weight, Tachycardia, Hyper...	ORPHA:263455
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
48,Xxxy Syndrome	Irritability, Tall stature, Pulmonary embolism, Inguinal hernia, Azoospermia, Abnormal social beh...	ORPHA:96263
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arr...	OMIM:616878
Optic Pathway Glioma	Precocious puberty, Optic atrophy, Papilledema, Hydrocephalus	ORPHA:2086
Alg6-Cdg	Failure to thrive, Retinal degeneration, Rod-cone dystrophy	ORPHA:79320
Macdermot-Winter Syndrome	Hypoplastic male external genitalia, Camptodactyly of finger, Ventriculomegaly	OMIM:247990
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Inguinal hernia, Hydrocephalus, Omphalocele, Camptodactyly of toe, Agenesis of corpu...	OMIM:175700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ...	ORPHA:255182
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Late-Onset Retinal Degeneration	Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d...	ORPHA:67042
Hyperostosis Cranialis Interna	Hyposmia, Optic atrophy, Facial palsy, Anosmia	OMIM:144755
Beta-Mercaptolactate Cysteine Disulfiduria	Convex nasal ridge, Anteverted nares, Obesity	ORPHA:1035
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Hydrocephalus, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Failure...	OMIM:277400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Tricuspid regurgitation, Pachygyria, Lateral ventricle dilatation, Ambiguous g...	OMIM:263520
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Anosm...	OMIM:614841
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Small pituitary gland, Flexion contracture, Lateral ventricle dilatation, Ventriculo...	OMIM:619479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	ORPHA:90064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Difficulty walking, Facial palsy, Achilles tendon contracture, Dysphagia, Pachygyri...	OMIM:606612
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus, Tall stature	OMIM:236660
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
3C Syndrome	Optic atrophy, Short nose, Hypospadias, Inguinal hernia, Hypoplasia of penis, Hydrocephalus, Dand...	ORPHA:7
Chromosome 2Q37 Deletion Syndrome	Wide nose, Hyperactivity, Anteverted nares, Stereotypical hand wringing, Hypothyroidism, Obesity,...	OMIM:600430
Fg Syndrome Type 1	Hypospadias, Inguinal hernia, Small pituitary gland, Hydrocephalus, Optic nerve hypoplasia, Abnor...	ORPHA:93932
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Rabin-Pappas Syndrome	Retinal telangiectasia, Low hanging columella, Retinal detachment, Optic nerve hypoplasia, Hydroc...	OMIM:620155
Bardet-Biedl Syndrome 6	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Myelomeningocele, De...	ORPHA:1914
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Ina...	OMIM:218000
Non-Acquired Isolated Growth Hormone Deficiency	Abdominal obesity, Depressed nasal bridge	ORPHA:631
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydranencephaly, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Joint contra...	OMIM:225790
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Agitation, Akinesia, Hyposmia, Low frustration tolerance, Depression, Shuffling gai...	ORPHA:411602
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Obesity, Truncal obesity, Small for gestational age, Depressed nasal...	ORPHA:96184
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Retinitis Pigmentosa 74	Obesity, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Chromosome 16P13.3 Deletion Syndrome, Proximal	Low hanging columella, Failure to thrive, Obesity, Prominent nose, Convex nasal ridge	OMIM:610543
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly, Joint contracture, Inability to walk	OMIM:617977
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Atax...	OMIM:207950
Ataxia-Deafness-Intellectual Disability Syndrome	Ventriculomegaly, Decreased nerve conduction velocity, Ataxia	ORPHA:1188
Pseudohypoparathyroidism Type 1C	Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy...	ORPHA:79444
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, First degree atrioventricular block, Obesity, Dysphagia, Bu...	ORPHA:589821
Developmental And Epileptic Encephalopathy 70	Ventriculomegaly, Cryptorchidism, Flexion contracture	OMIM:618298
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Cryptorchidism, Colpocephaly, Dysphagia, Ventriculomega...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked 30	Short nose, Agitation, Hydrocephalus, Anteverted nares, Hyperactivity, Prominent nasal bridge, Re...	OMIM:300558
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Pachygyria	ORPHA:2512
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism, Micropenis	OMIM:301900
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Caribbean Parkinsonism	Bradykinesia, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Progressive ...	ORPHA:97355
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovo...	OMIM:309801
Pseudopseudohypoparathyroidism	Obesity, Depressed nasal bridge	OMIM:612463
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Alexander Disease	Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria	OMIM:203450
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Abnormal atrioventricular conduction, Congestive heart failure, Secondary amenorrhea...	ORPHA:280365
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Occipital encephalocele, Retinal dysplasia, Retinal detachment, Polymicrogyria, Ty...	OMIM:236670
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Optic nerve hypoplasia, Motor stereotypy, Ventriculomegaly	ORPHA:228384
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Inability to walk, Truncal ataxia, Unsteady gait, Simplified gyral pattern, Ventriculomegaly, Per...	OMIM:618273
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Wide nose	ORPHA:254531
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Hamstring contractures, Failure to thrive, Hip contracture, Achil...	OMIM:613205
Megalencephaly	Truncal obesity, Wide nasal bridge	ORPHA:2477
Brain Small Vessel Disease 2	Polymicrogyria, Ventriculomegaly, Subcortical heterotopia, Intracranial hemorrhage	OMIM:614483
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Rod-cone dystrophy	OMIM:615633
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Ventriculomegaly, Pigmentary retinopathy, Increased CSF lactate	OMIM:619059
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Inguinal hernia, Truncal obesity, Broad-based gait, Dysdiadochokinesis, Gait disturban...	OMIM:616541
Chromosome Xq27.3-Q28 Duplication Syndrome	Abdominal obesity, Bulbous nose, Small for gestational age	OMIM:300869
Lissencephaly, X-Linked, 2	Ambiguous genitalia, Decreased testicular size, Prominent nasal bridge, Agenesis of corpus callos...	OMIM:300215
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:249270
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste...	OMIM:601186
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Truncal obesity, Retinal dystrophy, Attenuation of retin...	OMIM:617547
Muscle-Eye-Brain Disease	Optic atrophy, Meningocele, Hydrocephalus, Gait disturbance, Holoprosencephaly	ORPHA:588
Pontocerebellar Hypoplasia, Type 16	Prominent nose, Ventriculomegaly, Optic atrophy, Dysphagia	OMIM:619527
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Emanuel Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Low hanging columella...	ORPHA:96170
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Decreased cervical spine flexion due to contractures of posterior cervical muscles,...	ORPHA:98855
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Short nose, Inability to walk, Narrow nasal bridge, Low hanging columella, Antever...	OMIM:619383
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Polymicrogyria, Congenital contracture, Colpocephaly, Agenesis of corpus callosum,...	OMIM:620156
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Failure to thrive, Fle...	OMIM:613327
Pseudohypoparathyroidism Type 1A	Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy...	ORPHA:79443
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Decreased testicular size, Bifid nose, Micropenis, Hypogonadotropic hypogonadism	OMIM:614838
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Wide nasal bridge	OMIM:618821
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility, Anosmia, Nasal polyposis, Chronic rhinitis, Communica...	OMIM:244400
Amish Lethal Microcephaly	Optic atrophy, Irritability, Spina bifida, Agenesis of corpus callosum, Lissencephaly, Ventriculo...	ORPHA:99742
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hyperactivity, Anteverted nares, Decreased body weight, Precocious puberty, Ven...	OMIM:300958
Kleefstra Syndrome	Self-injurious behavior, Short nose, Hypospadias, Hypoplasia of penis, Anteverted nares, Cryptorc...	ORPHA:261494
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Depression, Emotional lability, Hypertension, Facial palsy, A...	ORPHA:58
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Patent ductus arteriosus, Anteverted nares, Elbow flexion contracture,...	OMIM:300868
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Retinal dystrophy, Encephalocele, Hydrocephalus, Anteverted nares, Abnorma...	ORPHA:2318
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Ataxia, Abnorma...	OMIM:616113
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia...	OMIM:617302
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Ataxia, V...	ORPHA:1933
Biemond Syndrome Ii	Hydrocephalus, Abnormality of the endocrine system	OMIM:210350
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Anteverted nares, Retinal degeneration	OMIM:616211
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Polymicrogyria, Gait distu...	ORPHA:220497
Acrodysostosis 2 With Or Without Hormone Resistance	Anteverted nares, Short nose, Obesity, Depressed nasal bridge	OMIM:614613
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Underdeveloped nasolabial fold, Prominent nasal tip, Obesity, Prominent nose, Bulbous nose, Depre...	OMIM:620191
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Low hanging columella, Recurrent hand flapping, Tics, Unilateral cryptorchidism,...	OMIM:617788
6Q25 Microdeletion Syndrome	External genital hypoplasia, Camptodactyly of finger, Failure to thrive, Agenesis of corpus callo...	ORPHA:251056
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Decreased cervical spine flexion due to contractures of posterior cervical muscles,...	ORPHA:261
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Dysphagia, Hypogonadism, Vent...	ORPHA:1606
Orofaciodigital Syndrome Xvi	Inability to walk, Inguinal hernia, Gray matter heterotopia, Retinopathy, Ataxia, Ventriculomegal...	OMIM:617563
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Decreased cervical spine flexion due to contractures of posterior cervical muscles,...	ORPHA:98853
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly, Restrictive cardiomyopathy, Sudden cardiac death	OMIM:115210
Mulibrey Nanism	Congestive heart failure, Wide nose, Enamel hypoplasia, Depressed nasal bridge, Ventriculomegaly,...	OMIM:253250
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Failure to thrive, Prominent nasal bridge, Ataxia, Attention deficit hyperacti...	OMIM:619556
Congenital Sialidosis Type 2	Optic atrophy, Yellow/white lesions of the retina, Inguinal hernia, Hydrocephalus, Ataxia, Hypopl...	ORPHA:93400
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Mi...	OMIM:614880
Rett Syndrome	Bradykinesia, Agitation, Difficulty walking, Inability to walk, Increased CSF lactate, Abnormal a...	ORPHA:778
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Obesity, Lethargy, Atrioventricular block, Arrhy...	ORPHA:26793
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Dandy-Walker malformation, Umbilical hernia, Depressed nasal bridge, Agenesis of c...	OMIM:612582
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
6P22 Microdeletion Syndrome	Hydrocephalus, Hernia, Patent ductus arteriosus	ORPHA:251046
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Kufor-Rakeb Syndrome	Bradykinesia, Akinesia, Hyposmia, Anosmia, Gait disturbance, Ataxia, Dysphagia, Aggressive behavior	OMIM:606693
Johnson Neuroectodermal Syndrome	Facial palsy, Anosmia, Choanal atresia, Failure to thrive, Hypogonadism, Bulbous nose	ORPHA:2316
Scheie Syndrome	Wide nose, Retinal degeneration, Depressed nasal bridge	OMIM:607016
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	External genital hypoplasia, Truncal obesity, Flexion contracture of digit, Decreased testicular ...	ORPHA:3041
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Impaired oroph...	ORPHA:2524
Tetanus	Bradycardia, Hypertension, Abnormal autonomic nervous system physiology, Dysphagia, Tachycardia, ...	ORPHA:3299
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Macular dystrophy, Abnormal retinal morphology on macular OCT, Abnormal dental e...	ORPHA:251004
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity, Unsteady gait, Loss of ambulation, Ataxia	OMIM:618124
Joubert Syndrome 14	Optic atrophy, Irritability, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation...	OMIM:614424
Amoebiasis Due To Free-Living Amoebae	Irritability, Abnormality of the adrenal glands, Hyposmia, CSF lymphocytic pleiocytosis, Facial p...	ORPHA:68
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Athetosis, Cardiomyopathy, Severe temper tantrums, Ataxia, Ventriculomegaly, Rod-c...	OMIM:617710
Houge-Janssens Syndrome 2	Inability to walk, Hydrocephalus, Anteverted nares, Gait ataxia, Agenesis of corpus callosum, Ven...	OMIM:616362
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Wide nasal bridge	OMIM:613192
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Convex nasal ridge, Choanal atresia, Hydrocephalus	ORPHA:93262
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Loss of gluteal subcutaneous adipose tissue, Increased adipose ...	ORPHA:435660
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Wagro Syndrome	Hypoplastic female external genitalia, Agitation, Emotional lability, Low frustration tolerance, ...	OMIM:612469
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Wide nasa...	ORPHA:94065
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Decreased cervical spine flexion due to contractures of posterior cervical muscles,...	ORPHA:98863
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Enamel hypoplasia, Failure to thrive, P...	OMIM:614576
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Decreased testicular size, Shawl scrotum, Agenesis of corpus callosum, ...	OMIM:615433
Myotonic Dystrophy 2	Right bundle branch block, Oligozoospermia, Premature ventricular contraction, Elevated circulati...	OMIM:602668
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Patent ductus arteriosus, Inguinal hernia, Gray matter heterotopia, Retinal coloboma, Pulmonic st...	OMIM:620654
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Hyperactivit...	OMIM:617281
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Anosmia, Decreased serum testosterone concentration, Primary amenorrhea,...	OMIM:618841
8P11.2 Deletion Syndrome	Retinal dystrophy, Azoospermia, Hypoplasia of penis, Anosmia, Abnormality of the hypothalamus-pit...	ORPHA:251066
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Tatton-Brown-Rahman Syndrome	Tall stature, Anteverted nares, Optic nerve hypoplasia, Overgrowth, Tricuspid regurgitation, Umbi...	OMIM:615879
Mitochondrial Complex I Deficiency, Nuclear Type 31	Ventriculomegaly, Failure to thrive, Dysmetria	OMIM:618251
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:244200
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Neurocutaneous Melanocytosis	Meningocele, Dandy-Walker malformation, Abnormality of neuronal migration, Abnormality of retinal...	ORPHA:2481
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Difficulty walking, Inability to walk, Right bundle branch...	ORPHA:206559
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Gait imbalance, Retinal dystrophy...	OMIM:209900
Spastic Paraplegia 50, Autosomal Recessive	Wide nasal ridge, Ataxia, Ventriculomegaly, Bulbous nose, Optic disc pallor	OMIM:612936
Trisomy 18P	Facial palsy, Polyphagia, Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Wid...	ORPHA:1715
Laron Syndrome	Aplasia/Hypoplasia involving the nose, Truncal obesity, Depressed nasal ridge, Hypoplastic nasal ...	ORPHA:633
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Failure to thrive, Obesity, Reduced social reciprocity, Motor st...	ORPHA:261197
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Morning glory anomaly, Choanal atresia, Abnormality of t...	ORPHA:91412
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Choanal atresia, Pulmonic stenosis, Chorioretinal coloboma, Patent ductus arteriosus,...	ORPHA:284169
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Edinburgh Malformation Syndrome	Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Failure to thrive, Abnormality of n...	ORPHA:1895
Temtamy Syndrome	Aortic regurgitation, Chorioretinal coloboma, Agenesis of corpus callosum, Convex nasal ridge, Ve...	OMIM:218340
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Hypospadias, Aortic regurgitation, Po...	OMIM:614866
Oxoglutarate Dehydrogenase Deficiency	Falls, Gait ataxia, Unsteady gait, Ventriculomegaly, Dysmetria	OMIM:203740
Neural Tube Defects, Susceptibility To	Anencephaly, Spina bifida occulta, Lipoma, Hydrocephalus, Myelomeningocele, Multiple lipomas	OMIM:182940
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:614858
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Colpocephaly, Lateral ventricle dilatation, Abnormal cortical gyration, Hydrocephal...	OMIM:210710
Proteus-Like Syndrome	Retinal detachment, Anteverted nares, Hydrocephalus, Communicating hydrocephalus, Shagreen patch,...	ORPHA:2969
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Convex nasal ridge, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Trisomy 1Q	Ventricular septal defect, Anophthalmia	ORPHA:261344
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Polymicrogyria, Overgrowth, Pachygyria, Knee flexion contracture, Ventriculomegaly...	OMIM:603387
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Difficulty walking, Broad-based gait, Gait ataxia, Motor stereotypy, Ventriculomegaly	OMIM:617807
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomega...	OMIM:218350
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:816
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Spastic gait, Scissor gait, Truncal ataxia, Facial diplegia, Hypertrophic cardiomyopathy, Perisyl...	OMIM:619121
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Agenesis of corpus callosum, Ventriculomegaly, Failure to thrive, Inguinal hernia	OMIM:618603
Cockayne Syndrome A	Retinal atrophy, Hypertension, Ataxia, Hypogonadism, Ventriculomegaly, Optic atrophy, Decreased n...	OMIM:216400
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Wide nasal bridge, Small for gestational age	OMIM:618302
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Az...	ORPHA:1772
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Broad-based gait, Truncal ataxia, Frontal polymicrogyria, Perisylvian polymicrogyria, Ventriculom...	OMIM:606854
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Patent ductus...	ORPHA:93274
Microtriplication 11Q24.1	Obesity, Wide nose	ORPHA:289522
Li-Ghorbani-Weisz-Hubshman Syndrome	Prominent nasal bridge, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Ventr...	OMIM:618974
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Short nose, Irritability, Wide nose, Failure to thrive, Facial telangiectasia, Fle...	OMIM:615851
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Arrhythmia, Abnormality of the sense of smell	ORPHA:3201
Papillary Tumor Of The Pineal Region	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251915
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Anteverted nares, Obesity, Wide nose	OMIM:619056
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Anteverted nares, Hypertension, Supraventricular tachycardia, Lateral v...	OMIM:181270
Orofaciodigital Syndrome Xv	Anteverted nares, Ventriculomegaly, Wide nasal bridge, Agenesis of corpus callosum	OMIM:617127
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Hypospadias, Low hanging columella, Anteverted nares, Polymicrogyria, C...	ORPHA:500159
Laurence-Moon Syndrome	Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Type II diabetes mellitus, Ata...	ORPHA:2377
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Retinal degeneration	ORPHA:442835
Retinitis Pigmentosa 23	Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e...	OMIM:300424
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Abnormality of the endocrine system, Hypoplasia of the ovary, Hy...	ORPHA:110
Cerebrooculofacioskeletal Syndrome 1	Elbow flexion contracture, Camptodactyly, Cryptorchidism, Failure to thrive, Prominent nasal brid...	OMIM:214150
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Hypogonadism, Depressed nasal bridge	OMIM:302950
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Ambiguous genitalia, Patent ductus arteriosus, Hypoplasia of penis, Agenes...	ORPHA:452
Sheehan Syndrome	Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insuff...	ORPHA:91355
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Khan-Khan-Katsanis Syndrome	Short nose, Corneal scarring, Tricuspid regurgitation, Failure to thrive, Joint contracture, Colp...	OMIM:618460
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Maternal diabetes, Abnormality of blood circulati...	ORPHA:860
Adnp Syndrome	Abnormal temper tantrums, Inguinal hernia, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyp...	ORPHA:404448
Tubulinopathy-Associated Dysgyria	Dysgyria, Agyria, Abnormal thalamus morphology, Ataxia, Pachygyria, Attention deficit hyperactivi...	ORPHA:467166
Nephronophthisis 18	Hydrocephalus, Hypertension, Retinitis	OMIM:615862
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Decreased motor nerve conduction velocity, Ventriculomegaly, Flexion contracture	OMIM:619851
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow...	OMIM:609734
Warburg Micro Syndrome 3	Optic atrophy, Short nose, Inability to walk, Polymicrogyria, Hypoplastic labia minora, Decreased...	OMIM:614222
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Anteverted nares, Recurrent hand flapping, Self-injurious behavior, Ventriculomegaly, Bulbous nos...	OMIM:617268
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
L1 Syndrome	Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Depression, Gait disturbance	ORPHA:275543
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Increased CSF lactate, Increased cup-to-disc ratio, Dysphagia, Agenesis of corpus ...	ORPHA:500144
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Short nose, Dysplastic corpus callosum, Ischemic stroke, Polymicrogyria, Optic ner...	ORPHA:500150
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hyperactivity, Precocious puberty, Ventriculomegaly, Aggressive behavior	ORPHA:457260
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Ambiguous genitalia, Hydrocephalus, Broad nasal tip, Ataxia, Choreoathetosis, Vent...	OMIM:614969
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Inguinal hernia, Hydrocephalus, Anteverted nares, Portal hypertension, A...	ORPHA:1454
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Tall stature, Obesity, Bulbous nose, Depressed nasal bridge	OMIM:618430
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Unilateral facial palsy, Anteverted nares, Ataxia, Ventriculomegaly, Bulbous nose,...	OMIM:618547
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Decreased circulating ACTH concentration, Depression, Emotional lability,...	ORPHA:189427
Crouzon Syndrome	Optic atrophy, Convex nasal ridge, Choanal atresia, Hydrocephalus	ORPHA:207
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mpdu1-Cdg	Optic atrophy, Decreased response to growth hormone stimulation test, Undetectable visual evoked ...	ORPHA:79323
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Agenesis of corpus callosum	OMIM:109120
Joubert Syndrome 37	Anteverted nares, Obesity, Wide nasal bridge, Wide nose	OMIM:619185
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Undetectable visual evoked potentials, Increased CSF lactate, Truncal ataxia, Hypert...	OMIM:619051
Intellectual Developmental Disorder, Autosomal Dominant 65	Anteverted nares, Compulsive behaviors, Ataxia, Agenesis of corpus callosum, Noncommunicating hyd...	OMIM:619320
Infantile Sialic Acid Storage Disease	Hydrocephalus, Anteverted nares, Failure to thrive, Congestive heart failure	OMIM:269920
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Enamel hypoplasia, Lateral ventricle dilatation, Rod-cone dy...	OMIM:300896
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Xfe Progeroid Syndrome	Optic atrophy, Premature ovarian insufficiency, Cachexia, Hypertension, Corneal scarring, Enamel ...	OMIM:610965
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Positive ...	OMIM:171420
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Decreased body wei...	OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 1	Short nose, Aggressive behavior, Bruxism, Recurrent hand flapping, Polyphagia, Depressed nasal ri...	OMIM:156200
Rhombencephalosynapsis	Short nose, Aganglionic megacolon, Hydrocephalus, Anteverted nares, Septo-optic dysplasia, Fusion...	ORPHA:59315
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Umbilica...	OMIM:612938
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Rasmussen Subacute Encephalitis	Irritability, Inability to walk, Emotional lability, Hyperactivity, Increased CSF protein concent...	ORPHA:1929
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Absence of pubertal development, Anosmia, Hypogonadism	OMIM:615267
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Nasal congestion, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Alg8-Cdg	Optic atrophy, Camptodactyly, Retinopathy, Failure to thrive, Ataxia, Ventriculomegaly, Small for...	ORPHA:79325
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Polyp...	OMIM:300942
Congenital Neuronal Ceroid Lipofuscinosis	Agenesis of corpus callosum, Ventriculomegaly, Wide nasal bridge, Pachygyria	ORPHA:168486
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism	ORPHA:2233
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Hyperinsulinemia, Tall stature, Decreased fertility in females, Decreased s...	OMIM:608594
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Facial palsy, Birth length greater than 97th percentile...	OMIM:310400
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Abnormal cranial nerve morphology, Anosmia	ORPHA:2057
Fumarase Deficiency	Optic atrophy, Anteverted nares, Polymicrogyria, Choroid plexus cyst, Reduced subcutaneous adipos...	OMIM:606812
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Wolff-Parkinson-White syndrome, Inguinal hernia, Increased CSF lactate, Hypertensi...	OMIM:614947
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Clitoral hypertrophy, Hyperinsulinemia, Tall stature, Decreased fertility in...	OMIM:269700
Desmosterolosis	Abnormality of the nose, Short nose, Abnormal cortical gyration, Ambiguous genitalia, Patent duct...	ORPHA:35107
Charge Syndrome	Delayed puberty, Bifid scrotum, Anosmia, Dysphagia, Umbilical hernia, Optic atrophy, Abnormal cra...	ORPHA:138
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Increased mitochondrial number, Cardiomyopathy, Right bundle ...	ORPHA:263297
Macrocephaly/Autism Syndrome	Short nose, Large for gestational age, Overgrowth, Obesity, Depressed nasal bridge	OMIM:605309
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamart...	OMIM:241800
Multiple Sulfatase Deficiency	Hydrocephalus, Anteverted nares, Increased CSF protein concentration, Ataxia, Ventriculomegaly, R...	OMIM:272200
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Cofs Syndrome	Microphthalmia	ORPHA:1466
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hyper...	OMIM:168000
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Cerebral Visual Impairment	Optic atrophy, Ischemic stroke, Hydrocephalus, Optic nerve hypoplasia, Attention deficit hyperact...	ORPHA:447788
Primary Ciliary Dyskinesia	Male infertility, Hydrocephalus, Nasal congestion, Nasal polyposis, Chronic rhinitis, Abnormal sp...	ORPHA:244
Snijders Blok-Campeau Syndrome	Inguinal hernia, Broad-based gait, Pulmonic stenosis, Enamel hypoplasia, Attention deficit hypera...	OMIM:618205
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Hypo...	OMIM:103580
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Ventriculomegaly, Aggressi...	ORPHA:500180
Joubert Syndrome	Aganglionic megacolon, Encephalocele, Hydrocephalus, Anteverted nares, Polymicrogyria, Gait distu...	ORPHA:475
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Thanatophoric Dysplasia	Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus, Ventriculomegaly, Depressed nas...	ORPHA:2655
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Broad columella, Rod-cone dystrophy, Underdeveloped nasal alae, Patchy atrophy of the retinal pig...	ORPHA:436245
Huntington Disease-Like 1	Bradykinesia, Depression, Gait disturbance, Gait ataxia, Restlessness, Weight loss, Ventriculomeg...	ORPHA:157941
Bresek Syndrome	Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Decreased testicular size, Convex n...	ORPHA:85284
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Bradycardia, Cardiac arrest, Cardiomyopathy, Premature ventricular contraction, Hyp...	OMIM:212138
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Hydrocephalus, Prolonged QTc interval, Syncope, Hypert...	ORPHA:90065
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Inguinal hernia, Hypoplasia of penis, Hydrocephalus, Abnormal dental enamel morpholog...	ORPHA:1812
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Developmental And Epileptic Encephalopathy 9	Attention deficit hyperactivity disorder, Ventriculomegaly, Aggressive behavior	OMIM:300088
Lipodystrophy, Familial Partial, Type 5	Decreased serum leptin, Hypertension, Lipodystrophy, Decreased adiponectin level, Diabetic ketoac...	OMIM:615238
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Tall stature, Aortic regurgitation, Inguinal hernia, Optic nerve hypoplasia, Promi...	ORPHA:261349
Leukoencephalopathy, Cystic, Without Megalencephaly	Ventriculomegaly, Athetosis, Ataxia	OMIM:612951
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Delayed puberty, Anosmia, Hypogonadism	OMIM:615270
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly, Cryptor...	OMIM:619180
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Anteverted nares, Decreased body weight, Motor stereotypy, Attention deficit hyper...	OMIM:618342
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Gm1-Gangliosidosis, Type Iii	Ventriculomegaly, Ataxia, Cherry red spot of the macula	OMIM:230650
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Cryptorchidism, Optic disc pallor	OMIM:613730
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Hypothyroidism, Patent ductu...	OMIM:601005
Baraitser-Winter Syndrome 2	Lissencephaly, Ventriculomegaly, Agenesis of corpus callosum, Pachygyria	OMIM:614583
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Prominent nasal tip, Camptodactyly, Decreased testicular size, Attention ...	OMIM:612513
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea...	ORPHA:435651
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Abnormality of the sense of smell, Ventriculomeg...	ORPHA:140
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Pyruvate Dehydrogenase E1-Beta Deficiency	Decreased body weight, Ataxia, Agenesis of corpus callosum, Pachygyria, Ventriculomegaly, Periven...	ORPHA:255138
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell...	ORPHA:2234
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary ame...	ORPHA:79239
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism	OMIM:612370
3-Hydroxyisobutyric Aciduria	Ventriculomegaly, Hypogonadotropic hypogonadism	ORPHA:939
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Retinal neovascularization, Partial agenesis of the corpus callosum	OMIM:619074
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Carpenter Syndrome 1	Optic atrophy, External genital hypoplasia, Patent ductus arteriosus, Spina bifida occulta, Campt...	OMIM:201000
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Ventriculomegaly, Irritability	ORPHA:348
Peho Syndrome	Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Flexion contracture, Ventriculomegaly...	ORPHA:2836
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypoplasia, Thyroid hypopla...	ORPHA:226307
Monosomy 18Q	Congestive heart failure, Patent ductus arteriosus, Hydrocephalus, Bilateral cryptorchidism, Left...	ORPHA:1600
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Short nose, Extra-axial cerebrospinal fluid accumulation, Stereotypic...	OMIM:619179
Whipple Disease	Myocarditis, Polydipsia, Gastrointestinal hemorrhage, Anorexia, Erectile dysfunction, Depression,...	ORPHA:3452
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Hypospadias, Anteverted nares, Choanal atresia, Chorioretinal coloboma, Dysphagia,...	ORPHA:494344
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Anteverted nares, Obesity, Depressed nasal ridge	ORPHA:464288
Emanuel Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Low hanging columella, Hydrocephalus, Dandy-Wal...	OMIM:609029
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Fusion of the left and right thalami, Unsteady gait, Agenesis of corpus callosum	OMIM:617542
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Hypospadias, Hydrocephalus, Anteverted nares, Hypertension, Bifid scrotum, Choanal...	OMIM:123790
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Palpitations, Adrenal pheochromocytoma, Hypertension associated with pheochromocyto...	OMIM:605373
13Q12.3 Microdeletion Syndrome	Low insertion of columella, Failure to thrive, Obesity, Underdeveloped nasal alae	ORPHA:412035
Galloway-Mowat Syndrome 5	Ventriculomegaly, Ataxia, Pachygyria	OMIM:617731
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Ethylene Glycol Poisoning	Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval, Atrial fibril...	ORPHA:31826
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Decreased body weight, Polyphagia	OMIM:620085
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Aortic valve stenosis, ...	ORPHA:459061
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Hydrocephalus, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cryp...	ORPHA:2701
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Lipodystrophy, Decreased ad...	ORPHA:79085
Pyruvate Dehydrogenase Deficiency	Gait disturbance, Choreoathetosis, Ataxia, Lethargy, Ventriculomegaly, Multiple lipomas, Wide nas...	ORPHA:765
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Attenuation of retinal blood vessels, Ventriculomegaly, Severe failure to...	ORPHA:468631
Arachnoid Cyst	Irritability, Inability to walk, Encephalocele, Abnormality of the endocrine system, Hydrocephalu...	ORPHA:2356
Tenorio Syndrome	Wide nose, Hydrocephalus, Anteverted nares, Emotional lability, Hypoinsulinemia, Gait disturbance...	OMIM:616260
Alkuraya-Kucinskas Syndrome	Short nose, Hydrocephalus, Anteverted nares, Dandy-Walker malformation, Gray matter heterotopia, ...	OMIM:617822
Intellectual Developmental Disorder, Autosomal Recessive 41	Ventriculomegaly, Broad nasal tip, Motor stereotypy, Self-injurious behavior	OMIM:615637
Baralle-Macken Syndrome	Obesity	OMIM:619255
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Truncal obesity	OMIM:618160
Serotonin Syndrome	Irritability, Agitation, Hypertension, Hypotension, Abnormality of the autonomic nervous system, ...	ORPHA:43116
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Failure to thrive	ORPHA:319199
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Neurodevelopmental Disorder With Involuntary Movements	Ventriculomegaly, Athetosis, Dysphagia, Self-injurious behavior	OMIM:617493
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Frontalis muscle weakness, Wide nasal bridge, Anosmia	OMIM:210745
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Optic atrophy, Elevated circulati...	OMIM:101800
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy	OMIM:605808
Hsd10 Disease, Infantile Type	Optic atrophy, Retinal degeneration, Rod-cone dystrophy	ORPHA:391428
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Hydrocele testis, Vent...	ORPHA:96181
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia, Ventriculomegaly, Ataxia	OMIM:226750
Asparagine Synthetase Deficiency	Irritability, Optic nerve hypoplasia, Prominent nasal tip, Dilated third ventricle, Dilated fourt...	OMIM:615574
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Overgrowth, Obesity, Agenesis of corpus callosum, Partial agenesis of the corpus call...	OMIM:620250
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Dpm1-Cdg	Optic atrophy, External genital hypoplasia, Camptodactyly, Retinopathy, Failure to thrive, Ataxia...	ORPHA:79322
Semilobar Holoprosencephaly	Abnormality of the endocrine system, Dysphagia, Abnormal hypothalamus physiology, Irritability, D...	ORPHA:220386
Alobar Holoprosencephaly	Abnormality of the endocrine system, Dysphagia, Abnormal hypothalamus physiology, Irritability, D...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the endocrine system, Dysphagia, Abnormal hypothalamus physiology, Irritability, D...	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the endocrine system, Dysphagia, Abnormal hypothalamus physiology, Irritability, D...	ORPHA:93924
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Angelman Syndrome Due To A Point Mutation	Gait imbalance, Tongue thrusting, Broad-based gait, Recurrent hand flapping, Obesity, Inappropria...	ORPHA:411511
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Bifid scrotum, Impulsivity, Ataxia, Heart murmur, Ventriculomegal...	OMIM:619475
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Momo Syndrome	Obesity, Overgrowth, Wide nasal bridge, Retinal coloboma	OMIM:157980
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Optic atrophy, Hydrocephalus, Anteverted nares, Hypertension, Bifid scrotum, Choanal atresia, Pro...	ORPHA:1555
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Reduced social reciprocity	OMIM:617051
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Anteverted nares, Obesity, Type II diabetes mellitus, Arrhythmia	ORPHA:3191
Porphyria Variegata	Scarring, Hypertension, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervous ...	ORPHA:79473
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Aqueductal stenosis, Retinal dystrophy, Low hanging columella, Hydrocephalus, Narr...	OMIM:619512
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Mucopolysaccharidosis Type 3	Hyperactivity, Ataxia, Dysphagia, Umbilical hernia, Adenoiditis, Ventriculomegaly, Hypersexuality...	ORPHA:581
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Joubert Syndrome 8	Obesity, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Gait disturbance, Flexion contracture, Small for gestational age	OMIM:613330
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly, Optic disc hypoplasia, Agenesis of corpus callosum	ORPHA:238769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:616538
Joubert Syndrome 2	Retinal dystrophy, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Failure to ...	OMIM:608091
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Congenital Disorder Of Glycosylation, Type If	Optic atrophy, Failure to thrive, Ataxia, Flexion contracture, Ventriculomegaly	OMIM:609180
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short nose, External genital hypoplasia, Wide nose, Broad-based gait, Emotional lability, Polypha...	ORPHA:251028
Hyperthyroidism, Familial Gestational	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:603373
Tularemia	Tachycardia, Abnormal nasopharyngeal adenoid morphology	ORPHA:3392
Cohen Syndrome	Optic atrophy, Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, Bull's e...	OMIM:216550
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Small pituitary gland, Hydrocephalus, Ventriculomegaly, Optic disc pallor	OMIM:614195
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Combined Oxidative Phosphorylation Deficiency 39	Increased CSF lactate, Congenital contracture, Joint contracture, Sinus bradycardia, Flexion cont...	OMIM:618397
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Congestive heart failure, Macroorchidism	OMIM:300886
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Dilated third ventricle, Ataxia, Motor stereotypy, Motor tics, Attention deficit hy...	OMIM:619725
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Anterior pituitary hypoplasia, Bifid nasal tip, Thick nasal alae, Cho...	ORPHA:1827
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Dysphagia, Lateral ventricle dilatation	OMIM:618367
Linear Verrucous Nevus Syndrome	Retinopathy, Ventriculomegaly, Aplasia/Hypoplasia of the fovea, Dandy-Walker malformation	ORPHA:2611
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma, Papilledema	OMIM:260500
Ogden Syndrome	Bifid nasal tip, Premature ventricular contraction, Dysphagia, Umbilical hernia, Ventriculomegaly...	OMIM:300855
Gorlin Syndrome	Hydrocephalus, Ovarian fibroma, Abnormality of the sense of smell, Cryptorchidism, Wide nasal bri...	ORPHA:377
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Anteverted nares, Underdeveloped nasal alae, Obesity, Depressed nasal bridge	OMIM:608624
Multiple Sulfatase Deficiency	Optic atrophy, Hydrocephalus, Anteverted nares, Abnormality of retinal pigmentation, Abnormality ...	ORPHA:585
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Graft Versus Host Disease	Irritability, Dupuytren contracture, Failure to thrive, Lipodystrophy, Tachycardia, Fasciitis	ORPHA:39812
Momo Syndrome	Large for gestational age, Tall stature, Wide nasal base, Overgrowth, Obesity, Chorioretinal colo...	ORPHA:2563
Desmosterolosis	Short nose, Ambiguous genitalia, male, Patent ductus arteriosus, Hydrocephalus, Anteverted nares,...	OMIM:602398
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R...	OMIM:620438
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Urban-Rogers-Meyer Syndrome	Obesity, Prominent nasal bridge	ORPHA:3409
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Broad columella, Rod-cone dystrophy, Underdeveloped nasal alae	ORPHA:166035
Neurodevelopmental Disorder With Dystonia And Seizures	Ventriculomegaly, Athetosis, Self-injurious behavior	OMIM:619922
Weiss-Kruszka Syndrome	Short nose, Anteverted nares, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Recombinant Chromosome 8 Syndrome	Anteverted nares, Camptodactyly, Pulmonic stenosis, Patent ductus arteriosus, Ventriculomegaly, C...	OMIM:179613
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, Broad nasal tip, Truncal obesity, Recurrent upper respiratory tract infections	ORPHA:284180
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Familial Multiple Lipomatosis	Chorioretinitis, Increased adipose tissue, Overgrowth, Lipodystrophy, Ventriculomegaly	ORPHA:199276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Polydipsia, Abnormal autonomic nervous system physiology, Aggressive behavior, D...	ORPHA:293987
Steinert Myotonic Dystrophy	Facial diplegia, Impotence, Mild fetal ventriculomegaly, Prolonged QRS complex, Aggressive behavi...	ORPHA:273
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Anteverted nares, Elbow flexion contracture, Hip contracture, Flexion contracture,...	OMIM:617301
Moebius Syndrome	Facial palsy, Dysphagia, Abnormality of the sense of smell, Arthrogryposis multiplex congenita, H...	ORPHA:570
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ...	ORPHA:90793
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Infertility, Dyspareunia, Abnormal autonomic nervous system...	ORPHA:71273
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Hip contracture, Obesity, Truncal ob...	OMIM:618363
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Difficulty walking, Broad-based gait, Truncal ataxia, Infertility...	ORPHA:320391
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Low hanging columella, Cryptorchidism, Prominent nasal bridge, Patent ductus arterio...	OMIM:618659
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Hypoplasia of penis, Bifid scrotum, Anosmia, Hypogonadot...	ORPHA:1295
Joubert Syndrome 9	Ventriculomegaly, Encephalocele, Retinal dystrophy	OMIM:612285
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Vaginal atresia...	ORPHA:3301
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Inability to walk, Emotional lability, Anteverted nares, Compulsive behaviors, Obesity, Perisylvi...	OMIM:618443
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Inability to walk, Diabetes insipidus, Slender build, Ventriculomegaly, Wide ...	OMIM:611087
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Hypoplasia of penis, Abnormality of neuronal migration, Ventriculomegaly, Cr...	ORPHA:2772
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Hyperthyroidism, Weight loss, Tachycardia, Goiter	OMIM:188580
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Roifman-Chitayat Syndrome	Optic atrophy, Umbilical hernia, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge	OMIM:613328
Smith-Kingsmore Syndrome	Short nose, Large for gestational age, Perisylvian polymicrogyria, Umbilical hernia, Ventriculome...	OMIM:616638
Atypical Werner Syndrome	Lipoatrophy, Delayed puberty, Hypertension, Aortic valve stenosis, Hypogonadism, Fasting hyperins...	ORPHA:79474
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Moyamoya Disease	Ventriculomegaly, Telangiectasia	ORPHA:2573
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Tall stature, Long penis, Oligozoospermia, Precocious puberty, Attention defici...	ORPHA:3000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Retinal dysplasia, Hydrocephalus, Da...	OMIM:615287
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Flexion contracture, Tachycardia	OMIM:614653
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Chorioretinal dysplasia, Hypospadias, Reti...	ORPHA:2556
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia, Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Diabetes mellitus, Hypertension, Lipodystrophy	OMIM:615980
20P12.3 Microdeletion Syndrome	Ventriculomegaly, Wolff-Parkinson-White syndrome, Wide nasal bridge, Depressed nasal bridge	ORPHA:261295
Apert Syndrome	Optic atrophy, Ovarian neoplasm, Hydrocephalus, Hypertension, Choanal atresia, Agenesis of corpus...	ORPHA:87
Maternal Uniparental Disomy Of Chromosome 1	Ventriculomegaly, Type I diabetes mellitus, Failure to thrive, Ataxia	ORPHA:251009
H Syndrome	Delayed puberty, Recurrent pharyngitis, Abnormal cardiovascular system physiology, Azoospermia, H...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iih	Ventriculomegaly, Failure to thrive in infancy, Ataxia, Depressed nasal bridge	OMIM:611182
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Developmental And Epileptic Encephalopathy 1	Ventriculomegaly, Choreoathetosis, Micropenis, Dysphagia	OMIM:308350
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Monosomy 9Q22.3	Short nose, Tall stature, Large for gestational age, Hydrocephalus, Ovarian fibroma, Hyperactivit...	ORPHA:77301
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, ...	ORPHA:91350
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Hydrocephalus, Gait disturbance, Failure to thrive, Ataxia, Ventriculomegaly, Leth...	ORPHA:395
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Short nose, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Po...	OMIM:618820
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Hydrocephalus, Hypergonadotropic hypogonadism, Hypogonadism, Patent ductus...	OMIM:300514
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Dysphagia, Lateral ventricle dilatation,...	ORPHA:261537
Albers-Schönberg Osteopetrosis	Optic atrophy, Facial palsy, Hydrocephalus	ORPHA:53
White-Sutton Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Ventral hernia, Inguinal hernia, Hyperactivity, C...	ORPHA:468678
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Hypospadias, Hyperactivity, Polymicrogyria, Gait disturbance, Ventricu...	ORPHA:457485
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, Inguinal hernia, Hydrocephalus, Papilledema, Abnormality of retinal pig...	OMIM:309900
Wieacker-Wolff Syndrome, Female-Restricted	Inability to walk, Anteverted nares, Facial palsy, Hip contracture, Achilles tendon contracture, ...	OMIM:301041
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Broad columella, Retinal degeneration, Rod-cone dystrophy, Un...	OMIM:250410
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Anencephaly, Hydrocephalus, Polymicrogyria, Retinal coloboma, Oc...	OMIM:616546
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity	ORPHA:397973
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ...	ORPHA:99827
Chromosome 18Q Deletion Syndrome	Optic atrophy, Congestive heart failure, Decreased response to growth hormone stimulation test, P...	OMIM:601808
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lipoatrophy, Tall stature, Generalized lipodystrophy, Hydrocephalus, Narrow nasal ridge, Lateral ...	OMIM:616914
Spastic Paraplegia 51, Autosomal Recessive	Long nose, Inability to walk, Excessive shyness, Overweight, Flexion contracture, Ventriculomegal...	OMIM:613744
Hec Syndrome	Cardiomyopathy, Communicating hydrocephalus, Arrhythmia, Abnormal retinal vascular morphology, Va...	ORPHA:2119
Hurler Syndrome	Aortic regurgitation, Inguinal hernia, Hydrocephalus, Anteverted nares, Cardiomyopathy, Broad nas...	OMIM:607014
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Ventriculomegaly, Shawl scrotum, Motor stereotypy	ORPHA:85277
Thumb Agenesis, Short Stature, And Immunodeficiency	Delayed puberty, Anosmia	OMIM:274190
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Choanal atresia	OMIM:612247
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Hypospadias, Bifid scrotum, Pachygyria, Ventriculomegaly, Wide nasal bridge	ORPHA:66629
Pierpont Syndrome	Microphthalmia	OMIM:602342
Mucopolysaccharidosis Type 1	Optic atrophy, Congestive heart failure, Inguinal hernia, Hydrocephalus, Thick nasal alae, Hypert...	ORPHA:579
Aicardi Syndrome	Delayed puberty, Optic atrophy, Retinal detachment, Polymicrogyria, Precocious puberty, Abnormali...	ORPHA:50
Familial Dysautonomia	Optic atrophy, Orthostatic hypotension, Hypertension, Gait disturbance, Ataxia, Tachycardia	ORPHA:1764
Cushing Disease	Increased body weight, Hypertension, Pituitary corticotropic cell adenoma, Adrenal hyperplasia, I...	ORPHA:96253
Ogden Syndrome	Inguinal hernia, Shuffling gait, Cardiogenic shock, Enlarged naris, Arrhythmia, Ventriculomegaly,...	ORPHA:276432
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Aortic regurgitation, Retinal detachment, Gait disturbanc...	ORPHA:464311
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Obesi...	ORPHA:98794
Degcags Syndrome	Short nose, Ambiguous genitalia, Hypospadias, Oral-pharyngeal dysphagia, Tachycardia, Anteverted ...	OMIM:619488
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Partial anosmia, Aortic regur...	ORPHA:2326
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Lead Poisoning	Delayed puberty, Anorexia, Decreased male libido, Depression, Infertility, Oligozoospermia, Hyper...	ORPHA:330015
Hurler Syndrome	Abnormal nerve conduction velocity, Hydrocephalus, Anteverted nares, Depression, Hypertension, Ca...	ORPHA:93473
4Q21 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Motor stereotypy, Ventriculomegaly, Depress...	ORPHA:238750
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Aplasia of the vagina, Hydrocephalus, Anteverted nares, Optic nerve hypoplasia, ...	ORPHA:457284
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia	ORPHA:1101
Hereditary Coproporphyria	Tachycardia, Atypical scarring of skin	ORPHA:79273
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Wagr Syndrome	Obesity	ORPHA:893
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Gait disturbance, Failure to thrive, Ataxia, Dysphagia, Patent ductus arteriosus, ...	OMIM:230600
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Waddling gait, Retinal coloboma, Spina bifida, Camptodactyly of f...	ORPHA:2839
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas...	OMIM:610475
Metatropic Dysplasia	Hydrocephalus, Camptodactyly of finger, Depressed nasal bridge	ORPHA:2635
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
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	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Sturge-Weber Syndrome	Optic atrophy, Hydrocephalus, Retinal detachment, Conjunctival telangiectasia, Dysphagia, Abnorma...	ORPHA:3205
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio...	ORPHA:1435
6Q Terminal Deletion Syndrome	Hypospadias, Polymicrogyria, Phimosis, Gray matter heterotopia, Gait ataxia, Failure to thrive, A...	ORPHA:75857
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Inability to walk, Elbow flexion contracture, Hip contracture, Obesity, Unsteady g...	OMIM:618493
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Abnormal left ventricular function, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Pulmonic...	OMIM:301056
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Retinopathy, Failure to thrive, Retinal degeneration, Macular scar	OMIM:239000
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Athetosis, Retinal hemorrhage, Communicating hydrocephalus, Ataxia, Dysphag...	ORPHA:25
Cutis Laxa, Autosomal Recessive, Type Iib	Inguinal hernia, Hydrocephalus, Narrow nasal ridge, Failure to thrive, Agenesis of corpus callosu...	OMIM:612940
Secondary Short Bowel Syndrome	Aganglionic megacolon, Primary hypothyroidism, Polyphagia, Central hypothyroidism, Failure to thr...	ORPHA:95427
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Bilateral choanal atresia/stenosis, Hypospadias, Gray matter heteroto...	ORPHA:314679
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Ventriculomegaly, Abnormal nasal morphology, Hypospadias, Truncal obesity	ORPHA:3224
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Marshall-Smith Syndrome	Tall stature, Optic nerve hypoplasia, Hypertension, Premature ventricular contraction, Umbilical ...	OMIM:602535
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect	OMIM:206900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Simplified gyral pattern, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge	OMIM:615760
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Inability to walk, Narrow nasal ridge, Failure to thrive, Colpocephaly, Ataxia, Peni...	OMIM:620083
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Ventri...	ORPHA:1647
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tall stature, Obesity	OMIM:618089
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso...	ORPHA:1501
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Truncal ataxia, Failure to thrive, Ventriculomegaly, Cryptorchidism	ORPHA:88639
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Hyperactivity, Cachexia, Broad-based gait, Decreased testic...	ORPHA:85293
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Joint contracture, Arrhythmia, Severely reduced left ventricular ejecti...	OMIM:611705
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Hydrocephalus, Depression, Cryptorchidism, Failure to thrive, Agenesis of corpus...	ORPHA:250989
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m...	OMIM:220210
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Anteverted nares, Polymicrogyria, Increased CSF protein concentration, ...	OMIM:251290
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Aortic valve stenosis	OMIM:615599
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent...	OMIM:613424
Gitelman Syndrome	Delayed puberty, Polydipsia, Prolonged QT interval, Hypotension, Increased circulating renin leve...	OMIM:263800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Dysphagia, Lateral ventricle di...	ORPHA:261552
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Developmental And Epileptic Encephalopathy 64	Inability to walk, Low insertion of columella, Anteverted nares, Broad nasal tip, Motor stereotyp...	OMIM:618004
Pde4D Haploinsufficiency Syndrome	Short nose, Elevated circulating parathyroid hormone level, Hypospadias, Abnormal dental enamel m...	ORPHA:439822
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Hennekam-Beemer Syndrome	Optic atrophy, Long nose, Irritability, Wide nose, Hypotension, Camptodactyly of finger, Failure ...	ORPHA:2135
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Small scrotum, Hyperactivity, Low frustration tolerance, Microphallus, Gait ataxia, Mo...	OMIM:300486
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Fibular Hemimelia	Abnormal heart morphology, Anophthalmia	ORPHA:93323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
15Q Overgrowth Syndrome	Congenital stationary night blindness, Hydrocephalus, Dandy-Walker malformation, Overgrowth, Pulm...	ORPHA:314585
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Tongue thrusting, Emotional lability, Recurrent hand flapping, Extra-axial cer...	OMIM:619580
Lipoyltransferase 1 Deficiency	Ventriculomegaly, Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Long nose, Premature ovarian insufficiency, Hypospadias, Endometriosi...	ORPHA:363444
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Disproportionate tall stature	ORPHA:2172
Hemangioblastoma	Hydrocephalus, Retinal capillary hemangioma	ORPHA:252054
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Short nose, Abnormal cortical gyration, Congenital hypothyroidism, Failure to thri...	OMIM:617527
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hypogonadism...	ORPHA:91347
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Optic atrophy, Hydrocephalus, Cranial nerve compress...	OMIM:259710
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation, Hypothyroidism, Wide nasal bridge, Small for gestationa...	ORPHA:79332
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Compulsive behaviors, Camptodactyly of finger, Abnormality of neuro...	ORPHA:261236
Medulloblastoma	Irritability, Cerebellar hemorrhage, Progressive cerebellar ataxia, Abnormal cranial nerve morpho...	ORPHA:616
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Uterus didelphys, Bicornuate uterus, Abnormality of the sense of...	ORPHA:958
Mody	Large for gestational age, Hypoinsulinemia, Abnormal circulating insulin concentration, Retinopat...	ORPHA:552
Alstrom Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperinsulinemia...	OMIM:203800
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Dural Sinus Malformation	Cerebellar hemorrhage, Hydrocephalus, Papilledema, Ataxia, Subarachnoid hemorrhage, Cerebral hemo...	ORPHA:97339
Carpenter Syndrome	External genital hypoplasia, Umbilical hernia, Obesity, Patent ductus arteriosus, Cryptorchidism,...	ORPHA:65759
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig...	ORPHA:52901
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Dysphagia, Hypertrophic cardiomyopathy	ORPHA:368
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Hypertension, Oligomenorrhea, Obesity, Pituit...	OMIM:219090
Monosomy 13Q34	Pulmonic stenosis, Obesity, Broad nasal tip, Prominent nasal bridge, Epistaxis, Agenesis of corpu...	ORPHA:96168
Cockayne Syndrome B	Optic atrophy, Normal pressure hydrocephalus, Decreased nerve conduction velocity, Severe failure...	OMIM:133540
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Anteverted nares, Extra-axial cerebrospinal fluid accumulation, Promi...	OMIM:616900
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly, Optic disc coloboma	ORPHA:1553
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Inguinal hernia, Bradycardia, Increased CSF lactate, Pulmonary arterial hypertension...	OMIM:619272
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Encephalocele, Optic nerve hypoplasia, Choroid plexus cyst, Bifid nas...	OMIM:603671
Stiff-Person Syndrome	Depression, Diabetes mellitus, Hypertension, Tachycardia	OMIM:184850
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Depression, Hypertension, Hypothyroidism, Obesity, Abnormali...	ORPHA:77296
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Ventriculomegaly, Flexion contracture, Abnormal autonomic nervous system physiology	OMIM:616683
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
High Altitude Pulmonary Edema	Tachycardia, Anorexia	ORPHA:330012
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Hypertension, Failure to thrive, Ventriculomegaly, Lethargy	ORPHA:2169
Osteogenesis Imperfecta, Type Xxiii	Truncal obesity	OMIM:620639
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Heart block, Hydrocephalus, Polymicrogyria, Cardiomyopathy, Ab...	ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Lethargy	OMIM:600649
Mosaic Variegated Aneuploidy Syndrome 1	Short nose, Ambiguous genitalia, Hypospadias, Wide nose, Hydrocephalus, Anteverted nares, Dandy-W...	OMIM:257300
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Inability to walk, Decreased body weight, Failure to thrive, Prominent nasal bridge, Flexion cont...	OMIM:617452
Endocrine-Cerebroosteodysplasia	Ambiguous genitalia, Hypospadias, Hydrocephalus, Adrenal hypoplasia, Depressed nasal tip, Microph...	OMIM:612651
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Ataxia, Hypogonadism, Ventriculomegaly, Pigme...	OMIM:610651
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Inability to walk, Wide nose, Decreased body weight, Failure to thrive, Prominent nasal bridge, L...	ORPHA:505237
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, Anteverted nares, Dandy-Walker malformation, Patent ductus arteriosus, Ventriculom...	OMIM:220500
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Irritability, Hydrocephalus, Undetectable visual evoked potentials, Facial palsy, ...	OMIM:259720
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Cerebellar ataxia associated with quadrupedal gait, F...	ORPHA:268940
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Pulmonic stenosis, Ventriculomegaly, Optic atrophy, Decreased response to growth ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Pulmonic stenosis, Ventriculomegaly, Optic atrophy, Decreased response to growth ...	ORPHA:363958
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Short nose, Patent ductus arteriosus, Inguinal hernia, Anteverte...	OMIM:618454
Distal Triplication 15Q	Large for gestational age, Hydrocephalus, Dandy-Walker malformation, Abnormal external genitalia,...	ORPHA:314588
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Inguinal hernia, Anteverted nares, Failure to thrive, Agenesis of corpus callosum, Ve...	OMIM:613735
Insulin-Like Growth Factor I, Resistance To	Agitation, Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased c...	OMIM:270450
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Inguinal hernia, Hyposmia, Obesity, Motor stereotypy, Heart murmur, Cryptorch...	OMIM:618653
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Retinal degeneration	OMIM:620646
8Q21.11 Microdeletion Syndrome	Wide nose, Hypoplasia of penis, Camptodactyly of finger, Abnormality of the sense of smell, Crypt...	ORPHA:284160
Mucopolysaccharidosis Type 2	Hyperactivity, Hypertension, Cardiomyopathy, Impulsivity, Retinopathy, Abnormal foveal morphology...	ORPHA:580
Encephalocraniocutaneous Lipomatosis	Lipoma, Hydrocephalus, Dandy-Walker malformation, Multiple central nervous system lipomas, Agenes...	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Retinal dysplasia, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Retinal a...	OMIM:253280
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Gait disturbance, Obesity, Unsteady gait, Dysmetria	ORPHA:93952
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration	ORPHA:168549
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Houge-Janssens Syndrome 3	Inguinal hernia, Broad nasal tip, Motor stereotypy, Umbilical hernia, Attention deficit hyperacti...	OMIM:618354
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Tachycardia, Micropenis	ORPHA:335
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Agitation, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Gait disturbanc...	OMIM:617903
Achondroplasia	Hydrocephalus, Anteverted nares, Obesity, Short nasal bridge, Depressed nasal bridge	ORPHA:15
Acth-Independent Macronodular Adrenal Hyperplasia	Agitation, Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular...	OMIM:219080
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Adrenal hypoplasia, Bicornuate uterus, Omphalocele,...	OMIM:264480
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Ante...	OMIM:619895
Pseudohypoparathyroidism, Type Ib	Obesity	OMIM:603233
Tetrasomy 5P	Short nose, Congestive heart failure, Hydrocephalus, Anteverted nares, Pulmonary arterial hyperte...	ORPHA:3309
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Pulmonic stenosis, Failure to thrive, Heart murmur, Aplasia/Hypo...	ORPHA:3426
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Anteverted nares, Prominent nasal tip, Tricuspid regurgitation, Patent ductus arteriosus, Attenti...	OMIM:618870
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Polymicrogyria, Ventriculomegaly, Agyria, Retinal dystrophy	ORPHA:370997
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hydrocephalus, Polymicrogyria, Cardiomyopathy, Abnormality of ...	ORPHA:157
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Phelan-Mcdermid Syndrome	Tall stature, Tongue thrusting, Broad-based gait, Bruxism, Unsteady gait, Reduced social reciproc...	OMIM:606232
Skraban-Deardorff Syndrome	Spastic gait, Broad-based gait, Anteverted nares, Ventriculomegaly, Depressed nasal bridge	OMIM:617616
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Jacobsen Syndrome	Optic atrophy, Short nose, Hypospadias, Hydrocephalus, Anteverted nares, Labial hypoplasia, Clito...	OMIM:147791
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Broad nasal tip, Depressed nasal bridge	OMIM:619680
Coffin-Lowry Syndrome	Optic atrophy, Wide nose, Anteverted nares, Thick nasal alae, Gait disturbance, Abnormality of ne...	ORPHA:192
Alg12-Cdg	Recurrent pharyngitis, Wide nose, Abnormal adipose tissue morphology, Retinal detachment, Patent ...	ORPHA:79324
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
Trisomy 17P	Wide nose, Hypoplasia of penis, Hydrocephalus, Thick nasal alae, Aortic valve stenosis, Flexion c...	ORPHA:261290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Low hanging columella, Mitral stenosis, Co...	OMIM:617260
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Optic atrophy, Long nose, Short nose, Hydrocephalus, Right bundle branch block, Depressed nasal b...	OMIM:618590
Tay-Sachs Disease	Optic atrophy, Abnormal thalamic MRI signal intensity, Inability to walk, Depression, Gait distur...	ORPHA:845
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Abnormal autonomic nervous system physiology, Sinus b...	ORPHA:101016
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Obesity, Broad nasal tip, Dysphagia, Self-injurious behavior, Attent...	ORPHA:466950
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Coccidioidomycosis	Abnormality of the female genitalia, Panniculitis, Abnormality of the endocrine system, Hydroceph...	ORPHA:228123
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hydrocephalus, Facial palsy, Failure to thrive, Facial paralysis	OMIM:259700
Congenital Myopathy 9A	Obesity	OMIM:618822
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Short nose, Abnormal cortical gyration, Failure to thrive, Impaired oropharyngeal ...	ORPHA:521426
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Irritability, Lethargy	OMIM:229700
Sotos Syndrome	Tall stature, Anteverted nares, Increased body weight, Overgrowth, Broad nasal tip, Enlarged nari...	OMIM:117550
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short nose, Hypospadias, Hypertrophic cardiomyopathy, Obesity, P...	ORPHA:251071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Type II lissencephaly, Congenital contracture, Agenesis of corpus c...	OMIM:613150
Pheochromocytoma	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Positive ...	OMIM:171300
Muscular Dystrophy, Congenital, With Or Without Seizures	Loss of ambulation, Ataxia, Dysphagia, Ventriculomegaly, Type I diabetes mellitus	OMIM:620166
Desbuquois Dysplasia 1	Concave nasal ridge, Short nose, Obesity, Depressed nasal bridge	OMIM:251450
Takenouchi-Kosaki Syndrome	Optic atrophy, Hypospadias, Inguinal hernia, Flared nostrils, Camptodactyly, Cryptorchidism, Pulm...	OMIM:616737
Neuroleptic Malignant Syndrome	Agitation, Bradycardia, Hypertension, Abnormal autonomic nervous system physiology, Hypertensive ...	ORPHA:94093
Marshall-Smith Syndrome	Optic atrophy, Short nose, Anteverted nares, Choanal atresia, Failure to thrive, Ventriculomegaly	ORPHA:561
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Anteverted nares, Underdeveloped nasal alae, Compulsive behavior...	ORPHA:1001
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Vas...	ORPHA:1855
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Reduced left ventricular ejection fraction, Palpitations, Depression, Atrial fibril...	ORPHA:254892
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Depression, Dilated third ventricle, Abnormal cerebrospinal fluid morphology, Ataxia	ORPHA:314404
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Myocardial necrosis, Atrial arrhythmia,...	OMIM:300257
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Large for gestational age, Inguinal hernia, Overgrowth, Precocious puber...	ORPHA:261652
Cocaine Intoxication	Ischemic stroke, Agitation, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hyp...	ORPHA:90068
Developmental And Epileptic Encephalopathy 80	Polymicrogyria, Failure to thrive, Ventriculomegaly, Wide nasal bridge, Optic disc pallor	OMIM:618580
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Truncal obesity, Small for gestational age, Concave nasal ridge	ORPHA:73272
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased CSF lactate, Hypertrophic cardiomyopathy, Obesity, Achilles tendon contracture, Heart m...	OMIM:615418
Joubert Syndrome 31	Ventriculomegaly, Truncal ataxia	OMIM:617761
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Short nose, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, Hy...	OMIM:619321
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Umbilical hernia, O...	ORPHA:567
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Tachycardia, Pulmonary arterial hypertension, Decreased serum insulin-like growt...	OMIM:614921
Triploidy	Hypospadias, Hypoplasia of penis, Hydrocephalus, Meningocele, Omphalocele, Holoprosencephaly, Amb...	ORPHA:3376
Crouzon Syndrome	Optic atrophy, Deviated nasal septum, Dysgerminoma, Hydrocephalus	OMIM:123500
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Hydrocephalus, Arrhythmia, Atrioventricular block, Dilated ca...	ORPHA:398124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Polymicrogyria, Elbow flexion contracture, Nasal congestion, ...	OMIM:608836
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Decreased CSF protein concentration, Corneal neovascularization, Decreased CSF alb...	ORPHA:404454
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Retinopathy, Rhi...	ORPHA:125
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Ventriculomegaly, Broad-based gait, Self-injurious behavior	OMIM:618707
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Retractile testis, Inability to walk, Low hanging columella, Ataxia, Ventriculomeg...	OMIM:617193
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Bohring-Opitz Syndrome	Optic atrophy, Severe failure to thrive, Inability to walk, Bradycardia, Anteverted nares, Dandy-...	ORPHA:97297
Hydroxykynureninuria	Tachycardia, Hypotension, Motor stereotypy	ORPHA:79155
Orofaciodigital Syndrome Xvii	Prominent nose, Ventriculomegaly, Decreased body weight, Micropenis	OMIM:617926
Thanatophoric Dysplasia Type 1	Hydrocephalus, Gray matter heterotopia, Patent ductus arteriosus, Ventriculomegaly, Depressed nas...	ORPHA:1860
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Colpocephaly, Agenesis of corpus callosum, Patent ductus arteriosus, Bulbous nose, Par...	OMIM:620113
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight, Abnormality of the male genitalia, Patent ductus arteriosus...	OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Hair-pulling, Nail-biting, Broad-based gait, Emotional lability, Optic nerve hypoplas...	OMIM:620330
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Femoral-Facial Syndrome	Short nose, Maternal diabetes, Inguinal hernia, Long penis, Ventriculomegaly, Cryptorchidism	ORPHA:1988
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal female external genitalia morphology, Precocious puberty, Attention deficit hyperactivit...	ORPHA:2637
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Galloway-Mowat Syndrome 1	Optic atrophy, Narrow nasal ridge, Dandy-Walker malformation, Camptodactyly, Abnormality of neuro...	OMIM:251300
Basilicata-Akhtar Syndrome	Anteverted nares, Camptodactyly, Precocious puberty, Wide nasal ridge, Choanal stenosis, Ventricu...	OMIM:301032
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia, Lethargy	ORPHA:159
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia, Ventriculomegaly	OMIM:618381
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Irritability, Abnormal cortical gyration, Inguinal hernia, Athetosis, Failure to thrive, Hypogona...	ORPHA:79351
Cohen Syndrome	Delayed puberty, Optic atrophy, Obesity, Abnormality of retinal pigmentation, Prominent nasal bri...	ORPHA:193
Rahman Syndrome	Ventriculomegaly, Cryptorchidism, Camptodactyly	OMIM:617537
Tuberous Sclerosis Complex	Subependymal nodules, Pheochromocytoma, Hyperactivity, Hypertension, Impulsivity, Pituitary adeno...	ORPHA:805
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Bidirectional shunt, Aortic regurgitation, Inguinal hernia, Diabetes insipid...	OMIM:619534
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Fetal Cytomegalovirus Syndrome	Optic atrophy, Ventriculomegaly, Chorioretinitis, Retinal hemorrhage	ORPHA:294
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased CSF lactate, Cardiac arrest, Hypertrophic cardiomyopathy, Ventriculomegaly, Lethargy, D...	OMIM:604377
Shox-Related Short Stature	Obesity	ORPHA:314795
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Short nose, Hypospadias, Inguinal hernia, Hydrocephalus, Choanal...	ORPHA:2409
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Knobloch Syndrome	Occipital encephalocele, Abnormal vitreous humor morphology, Retinal detachment, Macular degenera...	ORPHA:1571
Mirage Syndrome	Hypospadias, Hydrocephalus, Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogona...	OMIM:617053
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Musk, Inability To Smell	Anosmia	OMIM:254150
Monosomy 18P	Microphthalmia, Lymphedema	ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 64	Anteverted nares, Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, ...	OMIM:619188
Mercury Poisoning	Tachycardia, Hypertension, Hypotension, Anorexia	ORPHA:330021
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Werner Syndrome	Convex nasal ridge, Retinal degeneration	OMIM:277700
Kabuki Syndrome 1	Anoperineal fistula, Hydrocephalus, Premature thelarche, Congenital hypothyroidism, Depressed nas...	OMIM:147920
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Truncus arteriosus, Anophthalmia, Microphthalmia	ORPHA:2538
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Narrow nasal ridge, Anteverted nares, Polyphagia, Impulsivity, Attention defi...	OMIM:615538
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypotension, Tachycardia, Cellulitis, Fasciitis, Shock	ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormality of the endocrine system, Premature thelarche, Aortic valve stenosis, Ataxia, Dysphagi...	ORPHA:268261
Seckel Syndrome 9	Congenital diaphragmatic hernia, Clitoral hypertrophy, Ambiguous genitalia, Simplified gyral patt...	OMIM:616777
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short nose, Hypospadias, Anteverted nares, Hypertrophic cardiomyopathy, Flexion contracture, Smal...	OMIM:616897
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Opitz-Kaveggia Syndrome	Hypospadias, Inguinal hernia, Hydrocephalus, Choanal atresia, Camptodactyly, Gray matter heteroto...	OMIM:305450
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Fliedner-Zweier Syndrome	Obesity, Bulbous nose	OMIM:620511
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Communicating hydrocephalus, Hernia of the abdominal wall, Patent ductus ar...	ORPHA:2184
Stromme Syndrome	Hydrocephalus, Optic nerve hypoplasia, Retinal vascular tortuosity, Prominent nasal bridge, Agene...	OMIM:243605
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Microphthalmia, Umbilical hernia	ORPHA:2505
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Anteverted nares, Depressed nasal bridge, Flexion contracture, Agenesis of corpus ...	OMIM:619720
Diabetic Embryopathy	Tall stature, Hydrocephalus, Spinal dysraphism, Cryptorchidism, Micropenis, Abnormal morphology o...	ORPHA:1926
Smith-Lemli-Opitz Syndrome	Hyperactivity, Hypertension, Bifid scrotum, Colpocephaly, Small scrotum, Septate vagina, Aggressi...	OMIM:270400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Hydrocephalus, Abnormality of macular pigmentation, Pulmonary ar...	ORPHA:79282
Holoprosencephaly 9	Short nose, Decreased response to growth hormone stimulation test, Abnormal cortical gyration, Si...	OMIM:610829
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Increased serum testosterone level, Increased body weight, Abnormality of body ...	ORPHA:2298
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Meningocele, Anteverted nares, Chorioretinal coloboma, Ventriculomegaly, Underdevelop...	ORPHA:2031
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Decreased serum leptin, Hypertension, Sinus tachycardia, Right bundle branch block, ...	OMIM:614008
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Hypoplasia of penis, Camptodactyly of finger, Prominent nasal bridge, Small scrotum, ...	ORPHA:2083
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Hydrocephalus, Cachexia, Retinopathy, Ataxia	ORPHA:220295
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Charge Syndrome	Delayed puberty, Anosmia, Pulmonic stenosis, Dysphagia, Umbilical hernia, Decreased response to g...	OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal...	OMIM:301039
Trichothiodystrophy	Gonadal dysgenesis, Macular degeneration, Cardiomyopathy, Cryptorchidism, Gait ataxia, Enamel hyp...	ORPHA:33364
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Retinopathy, Pulmonic stenosis, Aortic valve stenosis, Keloids, Aggre...	ORPHA:353281
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, R...	ORPHA:542306
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Pseudoxanthoma Elasticum	Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr...	OMIM:264800
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Aortic regurgitation, Hyperactivity, Anterior pituitary hypoplasia, Gait disturbance...	ORPHA:464306
Cholera	Irritability, Hypovolemic shock, Hypotension, Tachycardia, Lethargy	ORPHA:173
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Bradycardia, Waddling gait, Congenital finger flexion contractures...	OMIM:620351
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Single naris, Inguinal hernia, Hypoplasia of penis, Hyposmia, Anosmi...	ORPHA:2250
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrocephalus, Bifid nose, Chorioretinal coloboma, Agenesis of c...	ORPHA:268249
Complete Androgen Insensitivity Syndrome	Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma...	ORPHA:99429
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Depression, Increased body weight, Hypertension, Adrenal hyperplasia, Dorsoce...	OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased...	OMIM:615954
Holoprosencephaly 7	Short nose, Midline defect of the nose, Semilobar holoprosencephaly, Alobar holoprosencephaly, Hy...	OMIM:610828
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla...	OMIM:301043
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Hypertrophic cardiomyopathy, Failure to thrive, Ataxia, Dysphagia, Arrhythmia, Ventr...	OMIM:615471
Martsolf Syndrome 1	Congestive heart failure, Enlarged sylvian cistern, Inguinal hernia, Cardiomyopathy, Cardiac arre...	OMIM:212720
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, External genital hypoplasia, Anteverted nares, Cryptorchidism, Obesity, Simplified...	OMIM:614231
Orofaciodigital Syndrome Type 14	Epispadias, Dandy-Walker malformation, Dilated third ventricle, Bilateral cryptorchidism, Retinal...	ORPHA:434179
Leopard Syndrome 1	Delayed puberty, Hypospadias, Spina bifida occulta, Hyposmia, Hypoplasia of the ovary, Delayed me...	OMIM:151100
Tetrasomy 9P	Amelogenesis imperfecta, Abnormal chorioretinal morphology, Inappropriate behavior, Lissencephaly...	ORPHA:3310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Angelman Syndrome	Broad-based gait, Hyperactivity, Obesity, Ataxia, Progressive gait ataxia, Paroxysmal bursts of l...	OMIM:105830
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Pulmonic stenosis, Ataxia, Optic atrophy, Decreased response to growth hormone stimu...	ORPHA:3455
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Sepsis In Premature Infants	Bradycardia, Decreased body weight, Hypotension, Tachycardia, Small for gestational age	ORPHA:90051
Sandestig-Stefanova Syndrome	Camptodactyly, Convex nasal ridge, Ventriculomegaly, Wide nasal bridge, Small for gestational age	OMIM:618804
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Mend Syndrome	Abnormal nasal bridge morphology, Abnormal social behavior, Hydrocephalus, Dandy-Walker malformat...	ORPHA:401973
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Gracile Bone Dysplasia	Microphthalmia, Ascites, Aniridia	OMIM:602361
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hypospadias, Hydrocephalus, Male pseudohermaphroditism, Gonadal ...	ORPHA:2075
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Hyperactivity, Ventriculomegaly, Male urethral meatus stenosis, ...	OMIM:613406
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism, Wid...	ORPHA:1908
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Hydrocephalus, Intraventricular hemorrhage, Hydrocele testis, ...	OMIM:613603
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration	ORPHA:168491
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Inguinal hernia, Hydrocephalus, Umbilical hernia, Cryptorchidism, Wide nasal bridge	OMIM:601499
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
African Trypanosomiasis	Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal growth hormone level, Pe...	ORPHA:3385
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration, Depressed nasal ridge	OMIM:248500
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Obesity, Broad nasal tip, Dysphagia, Self-injurious behavior, Attention deficit hyperactivity dis...	ORPHA:466943
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Hydrocephalus	ORPHA:1946
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
Kniest Dysplasia	Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat...	ORPHA:485
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Hydrocephalus, Athetosis, Broad nasal tip, Wide nasal bridge	OMIM:239300
Down Syndrome	Delayed puberty, Short nose, Aganglionic megacolon, Depressed nasal ridge, Gait disturbance, Obes...	ORPHA:870
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati...	ORPHA:216694
Cerebrooculonasal Syndrome	Short nose, Proboscis, Encephalocele, Hydrocephalus, Anteverted nares, Optic nerve hypoplasia, Da...	OMIM:605627
Pyruvate Carboxylase Deficiency	Anorexia, Decreased CSF glutamine concentration, Subependymal cysts, Abnormal temper tantrums, Ti...	ORPHA:3008
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Short nose, Tongue thrusting, Hydrocephalus, Anteverted nares, Hypertrophi...	OMIM:115150
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy	OMIM:212550
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Inguinal hernia, Retinal detachment, Atrophic scars, Cryptorchidism, Disproportionate...	ORPHA:2953
Microphthalmia, Syndromic 2	Microphthalmia, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Mitral valv...	OMIM:300166
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Keloids, Aggressive behavio...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Pulmonic stenosis, Aortic valve stenosis, Keloids, Aggressive behavio...	ORPHA:353277
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Patent ductus arteriosus	OMIM:614846
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Abnormal temper tantrums, Low hanging columella, Broad nasal tip, Self-injurious behavior, Ventri...	ORPHA:404473
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Camptodactyly of toe, Decreased testicular size, Hypogonadism, Small scrotum...	ORPHA:127
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Beck-Fahrner Syndrome	Depression, Extra-axial cerebrospinal fluid accumulation, Reduced social reciprocity, Attention d...	OMIM:618798
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Flexion contracture	OMIM:147800
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal temper tantrums, Limb ataxia, Azoospermia, Hydrocephalus, Cachexia, Spo...	ORPHA:2072
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Kleefstra Syndrome 1	Hypospadias, Anteverted nares, Compulsive behaviors, Obesity, Motor stereotypy, Cryptorchidism, M...	OMIM:610253
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Camptodactyly of finger, Prominent nasal bridge, Cryptorchidism, Micropenis, Depre...	OMIM:619951
Neurooculorenal Syndrome	Aqueductal stenosis, Decreased circulating ACTH concentration, Hydrocephalus, Polymicrogyria, Cen...	OMIM:620305
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Agitation, Melena, Capillary leak, Hypertension, Decreased body weight, Hypotension,...	ORPHA:340
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Corneal scarring	OMIM:616488
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Acute Intermittent Porphyria	Depression, Hypertension, Restlessness, Tachycardia, Pseudobulbar paralysis	ORPHA:79276
Knobloch Syndrome 1	Occipital encephalocele, Spina bifida occulta, Retinal detachment, Polymicrogyria, Chorioretinal ...	OMIM:267750
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Cardiofaciocutaneous Syndrome	Optic atrophy, Short nose, Hydrocephalus, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic...	ORPHA:1340
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Obesity...	ORPHA:247768
Chops Syndrome	Optic atrophy, Short nose, Anteverted nares, Obesity, Patent ductus arteriosus, Cryptorchidism	OMIM:616368
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Patent ductus arteriosus, Gray matter heterotopia, Broad nasal tip, Ventricular arrhythmia, Umbil...	OMIM:620475
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Irritability, Cervical myelopathy, Increased CSF lactate, Ataxia, Restlessness, Ventriculomegaly,...	OMIM:617186
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Retinopathy, Aortic valve stenosis, Lipodystrophy, Agenesis of c...	ORPHA:2396
Marfan Syndrome	Congestive heart failure, Abnormal left ventricular function, Aortic regurgitation, Inguinal hern...	ORPHA:558
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Neu-Laxova Syndrome	Abnormal cortical gyration, External genital hypoplasia, Ambiguous genitalia, Polymicrogyria, Dan...	ORPHA:2671
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hypospadias, Inguinal hernia, Anteverted nares, Pulmonary arterial hyperten...	OMIM:616449
Fryns Syndrome	Congenital diaphragmatic hernia, Aganglionic megacolon, Hypospadias, Anteverted nares, Dandy-Walk...	ORPHA:2059
Kabuki Syndrome	Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Hydrocephalus, Precocious pube...	ORPHA:2322
Neurofibromatosis Type 1	Delayed puberty, Tall stature, Abnormality of the endocrine system, Hydrocephalus, Pheochromocyto...	ORPHA:636
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Short nose, Depressed nasal ridge	OMIM:300863
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Choanal atresia, Camptodactyly, Fused labia minora, Choanal stenosis, Flexion cont...	OMIM:207410
De Sanctis-Cacchione Syndrome	Optic atrophy, Decreased CSF 5-hydroxyindolacetic acid concentration, Scissor gait, Bilateral cry...	OMIM:278800
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Congestive heart failure, Pericarditis	ORPHA:163596
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Papilledema, Obesity, Micropenis, Male hypogonadism, Rod-cone dystrophy...	OMIM:619471
Partial Androgen Insensitivity Syndrome	Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u...	ORPHA:90797
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Hydrocephalus, Umbilical hernia, Short nasal bridge, Patent ductus ...	OMIM:130720
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Fanconi Anemia	Aganglionic megacolon, Patent ductus arteriosus, Hypospadias, Azoospermia, Hydrocephalus, Abnorma...	ORPHA:84
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Intraventricular hemorrhage, Anteverted nares, Failure to thrive, Reduced circulating...	OMIM:616430
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, External genital hypoplasia, Hypospadias, Inguinal hernia, Hydrocephalus, Abnormal de...	ORPHA:2658
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Chorioretinal coloboma, Optic disc coloboma	OMIM:602499
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Obesity	ORPHA:319675
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Facial palsy, Pulmonary arterial hypertension, Failure to thrive, Broad nasal t...	OMIM:254940
Koolen-De Vries Syndrome	Hypospadias, Abnormal dental enamel morphology, Thick nasal alae, Cryptorchidism, Hypothyroidism,...	ORPHA:96169
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retinopathy, Obesity, Prominent nasal bridge	OMIM:619269
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Hypertension, Recurrent sinusitis, Ataxia,...	ORPHA:64
Distal 22Q11.2 Microduplication Syndrome	Wide nose, Hydrocephalus, Depressed nasal ridge, Cryptorchidism, Camptodactyly of toe, Camptodact...	ORPHA:261337
Porphyria, Acute Intermittent	Depression, Hypertension, Tachycardia	OMIM:176000
Ulnar-Mammary Syndrome	Delayed puberty, Hypoplasia of penis, Camptodactyly of finger, Hernia of the abdominal wall, Obes...	ORPHA:3138
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Carney Triad	Anorexia, Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Adrenal overacti...	ORPHA:139411
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ...	OMIM:608940
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Anteverted nares, Elbow flexion contracture, Spina bifida, Umbilical hernia, Promi...	OMIM:613776
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Hyperactivity, Cryptorchidism, Aortic valve stenosis, F...	OMIM:300960
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ataxia, Ocular albinism	ORPHA:2720
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Occipital Horn Syndrome	Scarring, Inguinal hernia, Femoral hernia, Dysphagia, Abnormality of the sense of smell, Atypical...	ORPHA:198
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Griscelli Syndrome	Hydrocephalus, Ataxia, Encephalocele	ORPHA:381
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Inguinal hernia, Anteverted nares, Communicating hydrocephalus, Short n...	OMIM:618188
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormal morphology of female internal genitalia, Hydrocephalus,...	ORPHA:1834
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Spina bifida occulta, Anteverted nares, Pulmonic stenosis, Paroxysmal supraventricula...	OMIM:617877
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Thanatophoric Dysplasia, Type I	Hydrocephalus, Gray matter heterotopia	OMIM:187600
Congenital Syphilis	Optic atrophy, Myocarditis, Hydrocephalus, Chorioretinitis, CSF pleocytosis, Rhinitis, Concave na...	ORPHA:499009
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Tongue thrusting, Broad-based gait, Abnormality of the pineal gla...	ORPHA:369950
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Obesity, Vaginal atresia, Hypogonadism, Rod-cone dystrophy	OMIM:615989
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ...	ORPHA:251510
Silver-Russell Syndrome	Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, P...	ORPHA:813
Papillorenal Syndrome	Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma, Optic disc col...	OMIM:120330
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Hypertension, Pulmonary carcinoid tumor, Adrenal hyperpl...	ORPHA:99889
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Hydrocephalus, Facial palsy, Remnants of the hyaloid vascular system, Abnormal...	ORPHA:637
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Patent ductus arteriosus, Spina bifida occulta, Hydrocephalus, Facial...	OMIM:300373
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, Hydrocephalus, ST segment elevation, Cardiomyopathy, Hypot...	OMIM:261740
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha...	ORPHA:264200
Carney Complex	Tall stature, Increased body weight, Pituitary growth hormone cell adenoma, Hypertension, Neoplas...	ORPHA:1359
Czeizel-Losonci Syndrome	Spina bifida occulta, Hydrocephalus, Aplasia of the left hemidiaphragm, Myelomeningocele, Spina b...	ORPHA:2437
Orofaciodigital Syndrome I	Abnormal cortical gyration, Hydrocephalus, Hypothalamic hamartoma, Hypertension, Gray matter hete...	OMIM:311200
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Failure to ...	OMIM:620519
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus,...	ORPHA:1120
Waardenburg Syndrome, Type 2E	Hypopigmentation of the fundus, Anosmia, Ocular albinism	OMIM:611584
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Gray matter heterotopia	OMIM:219730
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Depressed nasal bridge,...	OMIM:616482
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Ovarian neoplasm, Hydrocephalus, Polymicrogyria, Ataxia	ORPHA:65285
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Inguinal hernia, Hypoplastic labia majora, Anosmia, Choanal atresia, Primary amenorr...	OMIM:603457
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Parkinson Disease 8, Autosomal Dominant	Hyposmia, Bradykinesia	OMIM:607060
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Hydranencephaly	Antenatal intracerebral hemorrhage, Optic nerve hypoplasia, Chorioretinal atrophy, Dysgenesis of ...	ORPHA:2177
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive, Failure to thrive in infancy, Agenesis of corpus callosum, Primary amenorrhea,...	OMIM:619418
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
3Q29 Microduplication Syndrome	Obesity, Wide nasal bridge	ORPHA:251038
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Weight loss, Tachycardia	ORPHA:98849
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Marburg Hemorrhagic Fever	Anorexia, Aggressive behavior, Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal he...	ORPHA:99826
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Flexion contracture, Cryptorchidism, Wide nasal bridge	ORPHA:1865
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:611134
Adiposis Dolorosa	Hypothyroidism, Obesity, Telangiectasia of the skin, Depression	ORPHA:36397
Koolen-De Vries Syndrome	Hyperactivity, Pear-shaped nose, Gray matter heterotopia, Impulsivity, Cryptorchidism, Pulmonic s...	OMIM:610443
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Micropenis,...	OMIM:241410
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Cervical myelopathy, Inguinal hernia, Hydrocephalus, Sinus tachycardia, ...	OMIM:253200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short nose, Decreased response to growth hormone stimulation test, Hydrocephalus, Depressed nasal...	OMIM:616007
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Short nose, Depressed nasal ridge	ORPHA:163966
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Knee flexion contracture, Hydrocephalus, Decreased serum insulin-like g...	OMIM:618162
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm, Absent...	OMIM:614874
Cockayne Syndrome	Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Cachexia, Retinal atrophy,...	ORPHA:191
Distal Deletion 12Q	Obsessive-compulsive trait, Maturity-onset diabetes of the young, Hyperactivity, Anteverted nares...	ORPHA:96149
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Anteverted nares, Broad nasal tip, Holoprosencephaly, Ventriculo...	OMIM:612530
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Heart And Brain Malformation Syndrome	Microphthalmia, Polyhydramnios	OMIM:616920
Cockayne Syndrome Type 3	Retinal dystrophy, Retinal atrophy, Retinal hemorrhage, Retinal degeneration, Abnormality of peri...	ORPHA:90324
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre...	OMIM:194072
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Hypospadias, Antevert...	ORPHA:2745
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Ventriculomegaly, Nonprogressive cerebellar ataxia, Failure to thrive, Choreoathetosis	ORPHA:431361
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Secondary amenorrhea, Emotional lability, Pulmonic stenosis, Failure to th...	ORPHA:529962
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Hypospadias, Inguinal hernia, Spina bifida occulta, Anterior pituitar...	OMIM:151050
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent ductus arteriosus, Hypospadias, Low hanging columella, Anteverted nares, Anterior pituitar...	OMIM:619841
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Depression, Communicating hydrocephalus, Disproportionate tall stature, Dep...	ORPHA:309282
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Adrenal hypoplasia, Thyroid hypop...	ORPHA:2166
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Chroni...	OMIM:617091
Lissencephaly Due To Lis1 Mutation	Dysgyria, Posterior predominant thick cortex pachygyria, Agyria, Anterior predominant thick corte...	ORPHA:95232
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Aromatase Deficiency	Male infertility, Tall stature, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hyperg...	ORPHA:91
Thoracic Dysplasia-Hydrocephalus Syndrome	Ataxia, Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Cachexia, Prolonged QRS complex, Pulmonary venous hypertension,...	ORPHA:75565
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:141099
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Small scrotum, Wide nose, Labial hypoplasia, Cryptor...	OMIM:606170
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Atrophic scars, Polymicrogyria, Camptodactyly, Pulmonic stenosis, Atypical sc...	OMIM:618343
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Galloway-Mowat Syndrome 3	Hypertension, Camptodactyly, Failure to thrive, Simplified gyral pattern, Pachygyria, Lissencepha...	OMIM:617729
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hypertension...	OMIM:115310
White-Kernohan Syndrome	Dysplastic corpus callosum, Short nose, Rectovaginal fistula, Anteverted nares, Underdeveloped na...	OMIM:619426
Cog8-Cdg	Ventriculomegaly, Failure to thrive, Ataxia	ORPHA:95428
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, Cryptorchidism, Simplified gyral pattern, Ventriculomegaly, Bu...	OMIM:615803
Sifrim-Hitz-Weiss Syndrome	Ambiguous genitalia, Gait imbalance, Patent ductus arteriosus, Ventriculomegaly, Cryptorchidism, ...	OMIM:617159
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Williams Syndrome	Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Ataxia, Umbilical hernia...	ORPHA:904
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Optic neuropathy, Ataxia, Patent ductus ar...	OMIM:610505
1P21.3 Microdeletion Syndrome	Short nose, Obesity, Broad nasal tip	ORPHA:293948
Narcolepsy 7	Obesity	OMIM:614250
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism, Wide nasal bridge, Bulbous nose	ORPHA:1237
Intellectual Disability-Alacrima-Achalasia Syndrome	Delayed early-childhood social milestone development, Ventriculomegaly, Dysphagia, Aggressive beh...	ORPHA:289483
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in...	ORPHA:57777
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Rod-cone dystrophy, Ataxia, Communicating hydrocephalus	OMIM:616084
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Rectovaginal fistula, Anteverted nares, Communicating hydrocepha...	ORPHA:1780
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Anophthalmia	OMIM:219000
Trisomy 8P	Short nose, Multiple joint contractures, Hydrocephalus, Anteverted nares, Dandy-Walker malformati...	ORPHA:264450
Wilson Disease	Decreased nerve conduction velocity, Hypoparathyroidism, Hyposmia, Dysphagia, Chondrocalcinosis	OMIM:277900
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Hydrocephalus, Pulmonary arterial hypertension, Porta...	ORPHA:974
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Narrow nasal ridge, Hypertension, Female hypogonadism, Aortic valv...	ORPHA:740
Cryptococcosis	Prostatitis, Abnormal cranial nerve morphology, Hydrocephalus, Abnormal optic nerve morphology, A...	ORPHA:1546
Cole-Carpenter Syndrome 2	Hydrocephalus, Dentinogenesis imperfecta	OMIM:616294
Eisenmenger Syndrome	Patent ductus arteriosus, Right-to-left shunt, Atrial fibrillation, Elevated jugular venous press...	ORPHA:97214
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Autoimmune Hypoparathyroidism	Irritability, Prolonged QT interval, Depression, Autoimmune hypoparathyroidism, Ventricular arrhy...	ORPHA:36913
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Ataxia, Umbilical hernia, Ventriculome...	ORPHA:221139
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Gaucher Disease, Perinatal Lethal	Short nose, Akinesia, Anteverted nares, Decreased body weight, Dysphagia, Ventriculomegaly, Arthr...	OMIM:608013
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Short nose, Inguinal hernia, Hydrocephalus, Camptodactyly, Peric...	ORPHA:1272
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Difficulty walking, Overgrowth, Communicating hydrocephalus, Gait atax...	ORPHA:457359
Toriello-Carey Syndrome	Short nose, Aganglionic megacolon, Dandy-Walker malformation, Cardiomyopathy, Pulmonic stenosis, ...	ORPHA:3338
Rodrigues Blindness	Microphthalmia	OMIM:268320
Gaucher Disease	Delayed puberty, Hydrocephalus, Depression, Pulmonary arterial hypertension, Retinopathy, Ataxia,...	ORPHA:355
Cole-Carpenter Syndrome 1	Hydrocephalus, Dentinogenesis imperfecta, Communicating hydrocephalus	OMIM:112240
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Hypergonadotropic hypogonadism, Agenesis of corpus callosum, Patent ductus arterio...	OMIM:227646
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Polymicrogyria, Elbow flexion contracture, Gait ataxia, Enamel hypoplasi...	OMIM:619777
Carey-Fineman-Ziter Syndrome	Short nose, Glandular hypospadias, Anteverted nares, Facial palsy, Hypertensive crisis, Ventricul...	ORPHA:1358
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Occipital encephalocele, External genital hypoplasia, Anencephaly, Hyd...	OMIM:249000
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Hydrocephalus, Anteverted nares, Camptodactyly, Minimal subcutaneous fat, Umbili...	OMIM:182212
Pfeiffer Syndrome	Short nose, Hydrocephalus, Choanal atresia, Choanal stenosis, Depressed nasal bridge	OMIM:101600
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp...	OMIM:615926
Moebius Syndrome	Microphthalmia	OMIM:157900
Laurin-Sandrow Syndrome	Abnormality of the nose, Hydrocephalus, Depressed nasal ridge, Prominent nose, Cryptorchidism, Un...	ORPHA:2378
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Truncal ataxia, Ataxia, Limb joint contracture, Flexion contracture, Ventriculomegaly, Truncal ob...	OMIM:301072
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Hypospadias, Inguinal hernia, Abnormality of the endocrine system, Dandy-Walker ma...	ORPHA:487796
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Hydrocephalus, Shagreen patch, Abn...	ORPHA:538
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Camptodactyly of...	ORPHA:251014
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele, Camptodactyly, Joint contracture of the hand	OMIM:224400
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Short nose, Hydrocephalus, Anteverted nares, Atrophic scars, Peripapillary atrophy, Dentinogenesi...	ORPHA:536467
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Hypospadias, Anosmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:619718
Microcephaly 30, Primary, Autosomal Recessive	Ventriculomegaly, Choanal stenosis, Inguinal hernia	OMIM:620183
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Nasal polyposis, Recurrent sinusitis, Coiled sperm flagella	OMIM:620197
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Ventriculomegaly, Attention deficit hyperactivity disorder, Compulsi...	ORPHA:401986
Sarcoidosis	Scarring, Abnormality of the adrenal glands, Heart block, Diabetes insipidus, Abnormal cardiac ve...	ORPHA:797
Gapo Syndrome	Optic atrophy, Short nose, Anteverted nares, Facial palsy, Umbilical hernia, Ventriculomegaly, Re...	OMIM:230740
Iniencephaly	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malforma...	ORPHA:63259
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Umbilical hernia, Patent ductus arteriosus, Wide nasal bridge, Depressed nasal bridge	OMIM:104350
Frontofacionasal Dysplasia	Microphthalmia, Encephalocele	ORPHA:1791
Otopalatodigital Syndrome Type 2	Short nose, Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Omphalocele, Camptodacty...	ORPHA:90652
Kaufman Oculocerebrofacial Syndrome	Short nose, Clitoral hypertrophy, Anteverted nares, Failure to thrive, Depressed nasal bridge, Ve...	OMIM:244450
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Rubinstein-Taybi Syndrome 1	Hyperactivity, Impulsivity, Premature thelarche, Keloids, Hypospadias, Failure to thrive, Patent ...	OMIM:180849
Waardenburg Syndrome, Type 4C	Aganglionic megacolon, Anosmia, Hypogonadism, Cryptorchidism	OMIM:613266
Shprintzen-Goldberg Syndrome	Inguinal hernia, Anteverted nares, Communicating hydrocephalus, Camptodactyly of finger, Failure ...	ORPHA:2462
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Narrow nasal ridge, Dysphagia, Narrow nose, Increased serum testosterone level, Hypo...	OMIM:264090
Sanjad-Sakati Syndrome	Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel mo...	ORPHA:2323
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage	OMIM:177850
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of thyroid physiology, Abnormal cortical gyration, Dandy-Walker malformation, Choanal...	OMIM:300968
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Recurrent upper respiratory tract inf...	OMIM:217090
Apert Syndrome	Hydrocephalus, Choanal atresia, Choanal stenosis, Agenesis of corpus callosum, Vaginal atresia, V...	OMIM:101200
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	OMIM:276950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnorm...	ORPHA:508498
Hajdu-Cheney Syndrome	Delayed puberty, Patent ductus arteriosus, Wide nose, Inguinal hernia, Hydrocephalus, Anteverted ...	ORPHA:955
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Prolonged QT interval, Hypertension, Hyperinsulinemia, Secondary amenorrhea, Thy...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Prolonged QT interval, Hypertension, Hyperinsulinemia, Secondary amenorrhea, Thy...	ORPHA:99228
Monosomy X	Delayed puberty, Prolonged QT interval, Hypertension, Hyperinsulinemia, Secondary amenorrhea, Thy...	ORPHA:99226
Turner Syndrome	Delayed puberty, Prolonged QT interval, Hypertension, Hyperinsulinemia, Secondary amenorrhea, Thy...	ORPHA:881
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Ventriculomegaly, Self-biting	OMIM:618314
Intellectual Developmental Disorder, Autosomal Dominant 29	Wide nose, Hyperactivity, Frequent temper tantrums, Obesity, Attention deficit hyperactivity diso...	OMIM:616078
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Cardiomyopathy, Umbilical hernia, Flexion contracture, Recurrent upper respiratory...	OMIM:253220
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Prolonged QT interval, Thyrotoxicosis with diffu...	ORPHA:79102
Meckel Syndrome, Type 3	Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele	OMIM:607361
Developmental And Epileptic Encephalopathy 111	Inguinal hernia, Polymicrogyria, Hypertension, Sinus tachycardia, Premature ventricular contracti...	OMIM:620504
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hydrocephalus, Pulmonary arterial hypertension, Chronic rhinitis, Abnorm...	ORPHA:667
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Anteverted nares, Chordee, Colpocephaly, Narrow nasal tip, Cryptorchidism, Wide nasa...	ORPHA:477993
Neurodegeneration And Seizures Due To Copper Transport Defect	Decreased CSF copper concentration, Glandular hypospadias, Increased CSF lactate, Tricuspid regur...	OMIM:620306
Legius Syndrome	Ovarian neoplasm, Hyperactivity, Pulmonic stenosis, Paroxysmal atrial tachycardia, Attention defi...	ORPHA:137605
Farber Disease	Macular degeneration, Failure to thrive, Cherry red spot of the macula, Recurrent upper respirato...	ORPHA:333
Marden-Walker Syndrome	Epispadias, Hypospadias, Abnormal penis morphology, Hydrocephalus, Camptodactyly of finger, Failu...	ORPHA:2461
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Microphthalmia, Polyhydramnios	OMIM:302960
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Polym...	OMIM:154400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Broad nasal tip, Ventriculomegaly, Wide nasal bridge	OMIM:614749
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Diminishment of social interactions, Head-banging, Anteverted nares, Optic nerve hypoplasia, Phim...	OMIM:620455
Peters Plus Syndrome	Optic atrophy, Short nose, Patent ductus arteriosus, Inguinal hernia, Anterior hypopituitarism, H...	ORPHA:709
Arachnoiditis	Hydrocephalus	ORPHA:137817
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Anteverted nares, Retinal degeneration	OMIM:618479
Pfeiffer Syndrome Type 2	Short nose, Aqueductal stenosis, Hydrocephalus, Choanal atresia, Depressed nasal bridge	ORPHA:93259
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Gray matter heterotopia, Failure to thrive, Pachygyria, Patent ductus art...	OMIM:620024
Congenital Analbuminemia	Small for gestational age, Low pulse pressure, Obesity, Lipodystrophy	ORPHA:86816
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Congenital Enterovirus Infection	Myocarditis, Irritability, CSF lymphocytic pleiocytosis, Cardiomyopathy, Hypotension, Ventriculom...	ORPHA:292
Galloway-Mowat Syndrome 9	Ventriculomegaly, Choreoathetosis, Hiatus hernia	OMIM:619603
Isotretinoin-Like Syndrome	Inguinal hernia, Hydrocephalus, Anteverted nares, Aortic valve stenosis, Patent ductus arteriosus	ORPHA:2306
Aicardi-Goutières Syndrome	Lipoatrophy, Irritability, Difficulty walking, Panniculitis, Multiple joint contractures, Chronic...	ORPHA:51
Mosaic Trisomy 9	Microphthalmia, Polyhydramnios, Hydrops fetalis, Spina bifida, Oligohydramnios	ORPHA:99776
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:619879
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Inability to walk, Truncal ataxia, Premature vent...	OMIM:620066
Zttk Syndrome	Optic atrophy, Short nose, Dysplastic corpus callosum, Aortic regurgitation, Failure to thrive, F...	OMIM:617140
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Anteverted nares, Failure to thrive, Obesity, Broad nasal tip, Optic disc coloboma, N...	OMIM:617157
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight	ORPHA:69663
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Obesity, Bifid nose, Motor stereotypy, Umbilical hernia, Depressed nasal brid...	OMIM:301066
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Short nose, Hypospadias, Hyperactivity, Camptodactyly, Cryptorchidism, Broad nasal...	OMIM:309590
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Umbilical hernia	ORPHA:2268
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Anencephaly, Hypospadias, Encephalocele, Hydrocephalus, Omphalocele	ORPHA:1335
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Optic atrophy, Patent ductus arteriosus, Inguinal hernia, Anteverted nares, Decreased body weight...	OMIM:618164
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Hypospadias, Anencephaly, Hydrocephalus, Omphalo...	OMIM:313850
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Ventriculomegaly, Arthrogryposis multi...	ORPHA:440713
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Tall stature, Hypospadias, Anteverted nares, Choanal atresia, Cryptorchidism, Pate...	OMIM:616975
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Optic atrophy, Inguinal hernia, Cleft ala nasi, Narrow nasal bri...	OMIM:305600
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Bruxism, Obesity, Agenesis of corpus callosum, Umbilical hernia, Bul...	ORPHA:48652
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Tall stature, Communicating hydrocephalus, Gait ataxia, Disproportiona...	OMIM:617011
Senior-Loken Syndrome 8	Rod-cone dystrophy, Macular atrophy, Retinal dystrophy	OMIM:616307
Costello Syndrome	Hydrocephalus, Anteverted nares, Overgrowth, Hypertrophic cardiomyopathy, Pulmonic stenosis, Fail...	OMIM:218040
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Scarring, Short nose, Aortic regurgitation, Retinal detachment, Atrophic scars, Tricuspid regurgi...	OMIM:601776
Short-Rib Thoracic Dysplasia 12	Anencephaly, Inguinal hernia, Hydrocephalus, Omphalocele, Holoprosencephaly, Patent ductus arteri...	OMIM:269860
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Dextrocardia	Hydrocephalus, T-wave inversion, Abnormal reproductive system morphology, Abnormal EKG	ORPHA:1666
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Self-in...	ORPHA:534
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Microphthalmia With Limb Anomalies	Optic atrophy, Camptodactyly of 2nd-5th fingers, Hydrocephalus, Failure to thrive, Cryptorchidism...	ORPHA:1106
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Inguinal hernia, Hydrocephalus, Elbow flexion contracture, Depre...	OMIM:245600
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Polymicrogyria, Failure to thrive, Primary adrenal insuffici...	OMIM:261515
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Lower-limb joint contracture, Anteverted nares, Prominent nasal tip, Gait ataxi...	ORPHA:513456
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Macular degeneration, Hypertension, Failure to thrive, Attenuation of retinal ...	OMIM:266920
Generalized Pustular Psoriasis	Obesity, Overweight	ORPHA:247353
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Inguinal hernia, Anteverted nares, Failure to thrive, Ventriculomegaly, C...	ORPHA:444072
Frontonasal Dysplasia 2	Microphthalmia, Oligohydramnios, Encephalocele	OMIM:613451
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Restrictive cardiomyopathy, Precocious puberty, Obesity, Patent ductus arteri...	ORPHA:369837
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Curry-Jones Syndrome	Polymicrogyria, Lipomyelomeningocele, Occipital meningocele, Agenesis of corpus callosum, Ventric...	OMIM:601707
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc...	ORPHA:70591
Fontaine Progeroid Syndrome	Short nose, Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Pulmonary arterial ...	OMIM:612289
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Desbuquois Dysplasia 2	Truncal obesity, Depressed nasal bridge	OMIM:615777
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, U...	OMIM:618280
Primrose Syndrome	Delayed puberty, Ataxia, Ventriculomegaly, Aggressive behavior, Anteverted nares, Broad nasal tip...	OMIM:259050
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Failure to thrive, Abnormal fundus morphology	ORPHA:94147
Jacobsen Syndrome	Short nose, Inguinal hernia, Anteverted nares, Spina bifida, Aortic valve stenosis, Broad columel...	ORPHA:2308
Hajdu-Cheney Syndrome	Hypospadias, Wide nose, Inguinal hernia, Hydrocephalus, Anteverted nares, Umbilical hernia, Failu...	OMIM:102500
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Broad nasal tip, Prominent nasal bridge, Convex nasal ridge,...	ORPHA:3132
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligohydramnios	OMIM:251230
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Cousin Syndrome	Ambiguous genitalia, male, Hydranencephaly, Hydrocephalus, Wrist flexion contracture, Camptodacty...	OMIM:260660
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Abnormal dental enamel morphology, Anosmia, Choanal atresia, Bicornua...	ORPHA:2363
Cadds	Short nose, Ventriculomegaly, Adrenal hypoplasia	ORPHA:369942
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio...	ORPHA:247234
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Abnormal fallopian tube morphology, Broad nasal tip, Abnormality of the uterus, ...	ORPHA:1655
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hydrocephalus, Choanal atresia, Heart murmur, Intracranial hemorrhage, Patent ductus...	ORPHA:163979
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Left bundle branch block, Facial palsy, Failure to thrive, Arrhythmia	OMIM:610131
Raine Syndrome	Short nose, Hydrocephalus, Choanal atresia, Enamel hypoplasia, Choanal stenosis, Arthrogryposis m...	OMIM:259775
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e...	ORPHA:71505
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Mirizzi Syndrome	Tachycardia, Anorexia	ORPHA:521219
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Clitoral hypertrophy, Aganglionic megacolon, Ambi...	ORPHA:818
Baller-Gerold Syndrome	Optic atrophy, Rectovaginal fistula, Spina bifida occulta, Hydrocephalus, Polymicrogyria, Optic n...	OMIM:218600
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Gillespie Syndrome	Ventriculomegaly, Ataxia	OMIM:206700
Hydrolethalus Syndrome 1	Midline defect of the nose, Abnormal cortical gyration, Adrenal gland dysgenesis, Hypospadias, An...	OMIM:236680
Neu-Laxova Syndrome 2	Lissencephaly, Ventriculomegaly, Depressed nasal ridge, Spina bifida	OMIM:616038
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
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
Dubowitz Syndrome	Abnormal female external genitalia morphology, Hypoparathyroidism, Hypospadias, Spina bifida occu...	ORPHA:235
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Optic atrophy, Hypospadias, Hyperactivity, Anteverted nares, Decreased testicular size, Obesity, ...	OMIM:309580
Osteogenesis Imperfecta	Aortic regurgitation, Inguinal hernia, Hydrocephalus, Abnormal dental enamel morphology, Gait dis...	ORPHA:666
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Truncal obesity	OMIM:615812
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Tall stature, Inguinal hernia, Gonado...	ORPHA:116
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Short nose, Delayed puberty, Hypospadias, Hypoplasia of penis, A...	ORPHA:199
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Umbilical hernia, Ventriculomegaly, Bulbous nose, Small for gestational age	OMIM:614501
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Waddling gait, ...	ORPHA:506358
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Anteverted nares, Depressed nasal bridge, Communicating hydrocephalus	ORPHA:1064
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Peters-Plus Syndrome	Hypospadias, Hydrocephalus, Decreased body weight, Retinal coloboma, Umbilical hernia, Clitoral h...	OMIM:261540
Malignant Hyperthermia Of Anesthesia	Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou...	ORPHA:423
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Myhre Syndrome	Hypertension, Camptodactyly, Aortic valve stenosis, Obesity, Prominent nasal bridge, Ataxia, Pate...	OMIM:139210
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Chronic rhinitis, Recurrent upper respiratory tract infections	OMIM:618699
Stickler Syndrome	Short nose, Abnormal vitreous humor morphology, Retinal detachment, Anteverted nares, Cachexia, L...	ORPHA:828
Orofaciodigital Syndrome Ii	Hydrocephalus, Bifid nasal tip, Broad nasal tip, Depressed nasal bridge	OMIM:252100
Williams-Beuren Syndrome	Hypertension, Pulmonic stenosis, Early onset of sexual maturation, Umbilical hernia, Inguinal her...	OMIM:194050
Neu-Laxova Syndrome 1	Wide nose, Hydranencephaly, Dandy-Walker malformation, Choroid plexus cyst, Depressed nasal ridge...	OMIM:256520
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Holoprosencephaly 3	Abnormality of the nose, Central diabetes insipidus, Single naris, Proboscis, Holoprosencephaly, ...	OMIM:142945
Ctcf-Related Neurodevelopmental Disorder	Short nose, Abnormal temper tantrums, Inguinal hernia, Joint contracture of the 5th finger, Hypop...	ORPHA:363611
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus, Omphalocele	ORPHA:2736
Achondroplasia	Hydrocephalus, Choanal stenosis, Depressed nasal bridge	OMIM:100800
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Fanconi Anemia, Complementation Group F	Microphthalmia, Polyhydramnios	OMIM:603467
Yunis-Varon Syndrome	Narrow nasal base, Clitoral hypertrophy, Severe failure to thrive, Hypospadias, Hydrocephalus, An...	ORPHA:3472
Plague	Hematemesis, Anorexia, Depression, Hypotension, Unsteady gait, Arrhythmia, Tachycardia	ORPHA:707
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Premature ventricular contraction, Camptodactyly of finger, Joint cont...	OMIM:617072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Thyroid hypoplasia, Impulsivity, Unicornuate uterus, Dysphagia, Ventriculo...	OMIM:619503
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Mowat-Wilson Syndrome	Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ataxia, Dysphagia, Ventriculomegaly, Sep...	ORPHA:2152
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Slc39A8-Cdg	Inability to walk, Increased CSF lactate, Elbow flexion contracture, Failure to thrive in infancy...	ORPHA:468699
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Communicating hydrocephalus	ORPHA:2050
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, High-output congestive heart failure, Hydrocephalus, Cerebral ischemia,...	ORPHA:137667
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Wolf-Hirschhorn Syndrome	Hypospadias, Hydrocephalus, Aplasia of the uterus, Precocious puberty, Failure to thrive, Agenesi...	OMIM:194190
Fanconi Anemia, Complementation Group L	Hydrocephalus, Aplasia of the uterus, Depressed nasal tip, Attention deficit hyperactivity disord...	OMIM:614083
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Gaucher Disease, Type I	Epistaxis, Macular atrophy	OMIM:230800
Gaisböck Syndrome	Elevated diastolic blood pressure, Angina pectoris, Hypertension, Hypovolemia, Increased circulat...	ORPHA:90041
Meckel Syndrome, Type 6	Hydrocephalus, Occipital encephalocele, Abnormal internal genitalia, Anencephaly	OMIM:612284
Micro Syndrome	Microphthalmia	ORPHA:2510
Schinzel-Giedion Syndrome	Short nose, Aganglionic megacolon, Neural tube defect, Hypospadias, Inguinal hernia, Choroid plex...	ORPHA:798
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Short nose, Tall stature, Patent ductus arteriosus, Inguinal her...	OMIM:312870
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Cystinosis, Nephropathic	Delayed puberty, Polydipsia, Male infertility, Male hypogonadism, Primary hypothyroidism, Retinop...	OMIM:219800
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Decreased response to growth hormone stimulation test, Congestive heart failure, Hypo...	ORPHA:444077
Acrofacial Dysostosis, Cincinnati Type	Short nose, Aqueductal stenosis, Bilateral choanal atresia, Inguinal hernia, Hydrocephalus, Antev...	OMIM:616462
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Fraser Syndrome 3	Wide nose, Hypoplasia of penis, Hydrocephalus, Small scrotum, Convex nasal ridge	OMIM:617667
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Retinal atrophy, Cranial nerve compression, Failure to thrive, Abnormal retinal mo...	ORPHA:2785
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Perineal fistula, Rectovaginal fistula	ORPHA:3016
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Hydrocephalus, Bifid scrotum, Choanal atresia, Rectoperineal f...	OMIM:107480
Dysbetalipoproteinemia	Hypothyroidism, Obesity, Diabetes mellitus, Angina pectoris	ORPHA:412
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
3-Methylglutaconic Aciduria, Type Viii	Bradycardia, Increased CSF lactate, Failure to thrive, Dysphagia, Patent ductus arteriosus, Ventr...	OMIM:617248
Crane-Heise Syndrome	Hypoplasia of penis, Anteverted nares, Ventriculomegaly, Cryptorchidism, Depressed nasal bridge	ORPHA:1512
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Trisomy 18	Microphthalmia, Oligohydramnios, Anencephaly, Spina bifida	ORPHA:3380
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ventriculomegaly, Difficulty walking, Hypertrophic cardiomyopathy, Falls	OMIM:618222
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Coffin-Siris Syndrome 12	Hypospadias, Low hanging columella, Anteverted nares, Prominent nasal tip, Facial palsy, Cryptorc...	OMIM:619325
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Omphalocele, Pulmonic stenosis, Failure to ...	OMIM:306955
Ulnar-Mammary Syndrome	Delayed puberty, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Imper...	OMIM:181450
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Basal Cell Nevus Syndrome 1	Hydrocephalus, Ovarian fibroma, Spina bifida, Ovarian carcinoma, Wide nasal bridge	OMIM:109400
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy	OMIM:234200
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Carpenter Syndrome 2	Patent ductus arteriosus, Anteverted nares, Camptodactyly, Bilateral cryptorchidism, Umbilical he...	OMIM:614976
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ventral hernia, Anencephaly, Encephalocele, Spina bifida occulta...	ORPHA:2369
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele, Sacral lipoma	OMIM:600145
Focal Dermal Hypoplasia	Umbilical hernia, Microphthalmia, Spina bifida, Hypoplasia of the iris	ORPHA:2092
Vici Syndrome	Wide nose, Failure to thrive, Macular hypoplasia, Hypopigmentation of the fundus, Macular atrophy...	OMIM:242840
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Wrist flexion contracture, Congenital contracture, Depressed nasal tip, Camptodact...	OMIM:208150
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Single naris, Hydrocephalus, Absent external genitalia, Choanal ...	OMIM:273395
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Hydrocephalus...	OMIM:258040
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Bilateral cryptorchidism, Gait disturbance, Hip contracture, Flexion contracture, ...	ORPHA:3042
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency	ORPHA:1052
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Ataxia, Decreased thalamic volume, Communicating hydrocephalus	ORPHA:168577
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Campomelic Dysplasia	Hypospadias, Hydrocephalus, Depressed nasal ridge, Spina bifida, Failure to thrive, Recurrent upp...	OMIM:114290
Femoral-Facial Syndrome	Short nose, Maternal diabetes, Inguinal hernia, Encephalocele, Spina bifida, Pulmonic stenosis, C...	OMIM:134780
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Hypertension, Overgrowth, Spina bifida, Par...	OMIM:162200
Digeorge Syndrome	Patent ductus arteriosus, Inguinal hernia, Hypoplasia of the thymus, Femoral hernia, Hypothyroidi...	OMIM:188400
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Inguinal hernia, Hydrocephalus, Bifid scrotum...	ORPHA:322
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Ventriculomegaly	OMIM:300858
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pseudoaminopterin Syndrome	Inguinal hernia, Hydrocephalus, Prominent nasal bridge, Posterolateral diaphragmatic hernia, Cryp...	ORPHA:221120
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Isolated Posterior Meningocele	Difficulty walking, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipit...	ORPHA:268810
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the uterus, Aortic valve stenosis, Umbilical hernia, ...	OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Hydrocephalus, Retinal hemorrhage, Peripapillary atr...	OMIM:175780
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis	OMIM:231005
Truncus Arteriosus	Adrenocortical abnormality, Aortic regurgitation, Hypoplasia of the thymus, Pulmonic stenosis, Ab...	ORPHA:3384
Mowat-Wilson Syndrome	Aganglionic megacolon, Hypospadias, Low hanging columella, Prominent nasal tip, Bifid scrotum, Pu...	OMIM:235730
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Abnormal cortical gyration, Wide nasal base, Difficulty walking, Dandy-Walker ma...	ORPHA:480880
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Ring Chromosome 7 Syndrome	Short nose, Hypospadias, Anteverted nares, Prominent nasal bridge, Holoprosencephaly, Hypogonadis...	ORPHA:1449
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Low hanging columella, Anteverted nares, Camptodactyly, Failure to thrive, ...	OMIM:612474
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Encephalocele	OMIM:616300
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Coffin-Lowry Syndrome	Short nose, Inguinal hernia, Wide nose, Anteverted nares, Thick nasal alae, Decreased body weight...	OMIM:303600
Adams-Oliver Syndrome 1	Encephalocele, Polymicrogyria, Hypertension, Imperforate hymen, Pulmonary arterial hypertension, ...	OMIM:100300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Craniofacial Microsomia 1	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, Anophthalmia	OMIM:164210
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Hypoplasminogenemia	Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malformation, Abnormality of the ...	ORPHA:722
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens	ORPHA:48
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Corneal scarring, Camptodactyly of finger, Enamel hypoplasia, Failure to thr...	OMIM:309000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Proportionate tall stature, Attent...	ORPHA:363700
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Loeys-Dietz Syndrome 2	Inguinal hernia, Hydrocephalus, Camptodactyly, Umbilical hernia, Disproportionate tall stature, P...	OMIM:610168
Fryns Syndrome	Chylothorax, Microphthalmia, Polyhydramnios	OMIM:229850
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Loeys-Dietz Syndrome 1	Inguinal hernia, Hydrocephalus, Camptodactyly, Disproportionate tall stature, Patent ductus arter...	OMIM:609192
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Microphthalmia, Anophthalmia	OMIM:309800
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Sotos Syndrome	Ankle flexion contracture, Aganglionic megacolon, Tall stature, Patent ductus arteriosus, Inguina...	ORPHA:821
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Roberts Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3103
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ambiguous genitalia, Wide nose, Hypoplasia of penis, Dandy-Walker malformation, Omphalocele, Uter...	ORPHA:93271
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Polyhydramnios, Branchial cyst	OMIM:620186
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Oligohydramnios	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	Ankle flexion contracture, Clitoral hypertrophy, Enlarged labia minora, Patent ductus arteriosus,...	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	Hypospadias, Hydrocephalus, Omphalocele, Spina bifida, Umbilical hernia, Cryptorchidism, Elbow co...	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	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Aganglionic megacolon, Hypospadias, Inguinal hernia, Hypertension, Om...	OMIM:308205
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holt-Oram Syndrome	Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Congenital Total Pulmonary Venous Return Anomaly	Low-output congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Ri...	ORPHA:99125
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Oligohydramnios, Branchia...	ORPHA:508488
Pallister-Hall Syndrome	Microphthalmia, Oligohydramnios, Umbilical hernia	ORPHA:672
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857

Histopathology

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

There is no histopathology data for Bbs1

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

IMPC related publications

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

No publications found that use IMPC mice or data for Bbs1.

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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Bbs1 MGI:1277215

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Bbs1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data