Gene Summary

Name:
Bardet-Biedl syndrome 1 (human)
Synonyms:
D19Ertd609e

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
edema Bbs1em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Bbs1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Bbs1em1(IMPC)Mbp HOM   Early adult 0.00
small heart Bbs1em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
edema Bbs1em1(IMPC)Mbp HET E15.5 0.00

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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

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Lipedema
Edema OMIM:614103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal neuron morphology... ORPHA:329228
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Obesity OMIM:615984
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Truncal ataxia, Limb ataxia, Dysphag... ORPHA:135
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Developmental And Epileptic Encephalopathy 36
Poor eye contact, Flexion contracture, Cerebral atrophy, Microcephaly, Optic atrophy, Anteverted ... OMIM:300884
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Bardet-Biedl Syndrome 22
Rod-cone dystrophy, Obesity OMIM:617119
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Optic atrophy ORPHA:2732
Bardet-Biedl Syndrome 19
Hyposmia, Rod-cone dystrophy, Obesity OMIM:615996
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity OMIM:615989
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Cryptorchidism, Corpus callosum atrophy, Hypoplasia of the corpus c... ORPHA:565624
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... OMIM:616188
Huntington Disease
Decreased body mass index, Dystonia, Weight loss, Aggressive behavior, Apathy, Oral-pharyngeal dy... ORPHA:399
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Bronchiolitis, Retinal degeneration, Recurrent respiratory infections, Obesity OMIM:615993
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormality of neuronal migration, Abnormal corpus callosum morphology,... OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Polyrrhinia
Supernumerary naris, Abnormal third ventricle morphology, Abnormality of the nasal bone, Dilation... ORPHA:141091
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive in infancy, Decreased body... OMIM:617800
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Malan Overgrowth Syndrome
Episodic ataxia, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Tall... ORPHA:420179
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Delayed social development, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculom... OMIM:618677
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615987
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Arthrogryposis multiplex congenita, Pachygyria, Increased CSF lactate, Ventriculomegaly... OMIM:618397
Congenital Hydrocephalus
Colpocephaly, Bulbous nose, Ventriculomegaly, Macular hypoplasia, Small cerebral cortex, Abnormal... ORPHA:2185
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Increased CSF lactate, Abnormal cerebral white matter morphology,... OMIM:614947
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Simplified gyral pattern OMIM:615763
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Flexion contracture, Retinal dysplasia, Optic atrophy, H... OMIM:613154
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
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, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:605231
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Abnormal cerebral white matter morphology,... OMIM:607432
Mehmo Syndrome
Inability to walk, Male hypogonadism, Depressed nasal tip, Gait ataxia, Aggressive behavior, Diff... OMIM:300148
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus c... OMIM:604213
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cerebral white matter hypoplasia, F... ORPHA:284417
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Hypospadias, Microce... OMIM:617751
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Atypical Teratoid Rhabdoid Tumor
Apathy, Ataxia, Irritability, Cerebral calcification, Hydrocephalus ORPHA:99966
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Macular dystrophy, Obesity OMIM:615983
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Emotional lability, Torticollis, Spa... ORPHA:300570
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy, Impaired social interactions OMIM:617051
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Dilated fourth ventricle, Small for ges... ORPHA:3078
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia, Dilation of lateral vent... OMIM:618890
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... OMIM:600348
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Pigmentary retinopathy OMIM:617613
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... ORPHA:306669
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Failure to thrive, Microcephaly, Retinopathy, Hydrocephalus ORPHA:26
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Gray matter heterotopia, Enlarged sylvian cistern, Ventriculomegaly, Agyria ORPHA:1084
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agene... OMIM:618736
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism, Torticollis, Abn... OMIM:613724
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Rafiq Syndrome
Prominent nose, Wide nasal bridge, Obesity OMIM:614202
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71526
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Aggressive behavior, Difficulty walking, Dyspha... ORPHA:572798
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Retinal... OMIM:616756
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia,... OMIM:611603
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Simplified gyral pattern, Hyperactiv... OMIM:613402
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Bardet-Biedl Syndrome 21
Retinal atrophy, Overweight, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macu... OMIM:617406
Glutamine Deficiency, Congenital
Short nose, Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Wide nasal bri... OMIM:610015
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Pigmentary ret... ORPHA:79264
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:614830
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Gait ataxia, Ventriculomegaly, Flexion contracture of toe, Optic atrophy OMIM:619323
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity ORPHA:2139
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebral white... OMIM:618730
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Mental Retardation, X-Linked 91
Short nose, Obesity OMIM:300577
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Dysphagia, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Ag... OMIM:617669
Alg13-Cdg
Poor eye contact, Anteverted nares, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Optic atrophy, Hydrocephalus, Dandy-Walke... OMIM:617281
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Akinetic mutism, ... ORPHA:2148
Fried Syndrome
Aggressive behavior, Gait disturbance, Abnormality of the optic nerve, Cerebral calcification, Hy... ORPHA:85335
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Peho-Like Syndrome
Pachygyria, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Opti... OMIM:617507
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Cryptorchidism, Dilation of lateral ventricles OMIM:616816
Bowen-Conradi Syndrome
Camptodactyly of finger, Cryptorchidism, Ventriculomegaly, Microcephaly, Prominent nose ORPHA:1270
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism... OMIM:614963
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Central hypothyroidism, Chorioretinal hypopigmentation, Scrotal hyp... ORPHA:398079
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria, Aggressive behavior OMIM:612691
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Mul... ORPHA:488627
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Failu... OMIM:618606
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration, Obesity OMIM:615982
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Ataxia, Retinal degeneration, Cerebral calcification, Decreased response to gro... OMIM:225755
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Diffuse swelling of cerebra... OMIM:613925
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventri... ORPHA:272
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Short nose, Dysphagia, Ventriculomegaly, Thick nasal alae, Undetectable v... ORPHA:163961
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Dysphagia, R... OMIM:604360
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, R... ORPHA:179494
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Lethargy, Diffu... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse panc... ORPHA:276575
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Cerebral white matter atrophy, Hypoplasia of the corp... ORPHA:356961
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Difficulty walking, Ventriculomegaly, Abnormal cerebral whit... ORPHA:370980
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Obesity OMIM:300310
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral white matter hypoplasia, Wi... ORPHA:3207
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypopla... ORPHA:370968
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:324416
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Hsd10 Disease
Dysphagia, Ventriculomegaly, Gait disturbance, Abnormal social behavior, Ataxia, Frontotemporal c... ORPHA:391417
Alexander Disease
Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglyce... ORPHA:324575
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Ventriculomegaly, Cerebral atrophy, Ataxia, Optic atrophy OMIM:230600
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Hyperintensity of cerebral... ORPHA:99802
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cryptorchidism, Mood swings, Gait ataxia, Bulbous nose, Aggressive behavior, H... OMIM:300354
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal testis morphology, Atypical scarr... ORPHA:791
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Flexion contracture, Self-injurious behavior, Abnormality of the b... OMIM:304340
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Hiatus hernia, Spina bifida, Pachygyria, Choroid ... OMIM:304050
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertension, Increased adipose tissue, Type II diabetes mellitus, ... ORPHA:71529
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia, Obesity OMIM:303110
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism... ORPHA:54595
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bulbous nose, Aggressive behavior, Self-injurious behavior, Bilateral cryptorchidism, Dysplastic ... ORPHA:544488
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Recurrent bronchopulmonary infections ORPHA:85334
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration, Obesity OMIM:615981
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, ... ORPHA:250972
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Recurrent upper respiratory tract infections, Primary amenorr... OMIM:614962
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Short Stature-Obesity Syndrome
Narrow nose, Prominent nasal bridge, Obesity OMIM:269870
Narcolepsy Type 1
Obesity ORPHA:2073
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, A... OMIM:613153
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyper... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, R... ORPHA:66628
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Recurrent pneumonia OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Ventriculomegaly, An... OMIM:615287
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Oliver-Mcfarlane Syndrome
Small for gestational age, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Narp Syndrome
Progressive gait ataxia, Ventriculomegaly, Retinal pigment epithelial mottling, Ataxia, Cerebral ... ORPHA:644
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral whi... OMIM:600721
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Central hypothyroidism, Chorioretinal hypopigmentation, Scrotal hyp... ORPHA:398069
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Spastic gait, Microcephal... OMIM:616486
Microcephaly 17, Primary, Autosomal Recessive
Bulbous nose, Ventriculomegaly, Failure to thrive, Simplified gyral pattern, Microcephaly, Microl... OMIM:617090
Temple Syndrome
Cryptorchidism, Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Precoc... ORPHA:254516
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Inguinal hernia, Cryptorchidism ORPHA:1568
Distal Monosomy 10Q
Cavum septum pellucidum, Short nose, Aggressive behavior, Patent ductus arteriosus, Ataxia, Wide ... ORPHA:96148
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:98754
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Ventriculomegaly, Failure to thrive, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618228
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Meningioma
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Emotional lability, Cerebral hem... ORPHA:2495
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:98793
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Failure to ... OMIM:245200
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Abnormal lateral ventricle morpho... ORPHA:488635
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion contracture, Micr... OMIM:617977
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious behavior, Joint contractur... OMIM:618914
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia cysts, Episodic ataxia, Lethargy, Increased CSF lactate, Ventriculomegaly... OMIM:312170
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:177904
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Bulbous nose, Gray matter heterotopia, Ventriculomegaly, Macular hypoplasia, Simpli... OMIM:615219
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Spastic gait, Happy demeanor, Anteverted nar... OMIM:617616
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:177901
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:166990
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Optic atrophy, Agenesis of c... ORPHA:1528
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Overgrowth, Isos... ORPHA:759
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Overgrowth, Hernia, Hy... OMIM:602501
Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Scrotal hyp... ORPHA:398073
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Microcephaly, Abnormality of retinal pigmentation, Dilated cardiomyopathy ORPHA:2515
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Retin... ORPHA:397715
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Chorioretinal atrophy, Patent ductu... OMIM:220220
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1, Recurrent upper respiratory tract i... ORPHA:314389
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Postural hypotension with compensatory tachycardia, Hypotension, Ab... ORPHA:369873
Diencephalic Syndrome
Long penis, Hydrocephalus, Decreased body weight, Cachexia, Optic atrophy, Abnormality of the hyp... ORPHA:1672
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Progressi... OMIM:617862
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Temporal cortical atrophy, Frontal cortical atrophy, Poor eye conta... ORPHA:137831
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Bilateral Striopallidodentate Calcinosis
Microcephaly, Ventriculomegaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy, Wide nasal bridge OMIM:610127
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Unsteady gait, Mi... OMIM:618443
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Depressed nasal tip, Abnormal caudate nucleus morphology, Choroid plexus c... ORPHA:293725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypop... ORPHA:464282
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Xfe Progeroid Syndrome
Enamel hypoplasia, Convex nasal ridge, Ventriculomegaly, Absence of subcutaneous fat, Hypertensio... OMIM:610965
Lissencephaly 8
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Microcephaly, Optic atrophy,... OMIM:617255
Bardet-Biedl Syndrome 9
Polyphagia, Attenuation of retinal blood vessels, Irregular menstruation, Polydipsia, Retinal deg... OMIM:615986
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Summitt Syndrome
Obesity OMIM:272350
Gabriele-De Vries Syndrome
Cryptorchidism, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Waddling gait OMIM:617557
Congenital Hypothyroidism
Arrhythmia, Goiter, Hypotension, Hypothyroidism, Anosmia, Umbilical hernia, Abnormality of reprod... ORPHA:442
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Agenesis of corpus callosum, Shuffling gait OMIM:303350
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Anteverted nares, Ventriculomegaly, Polymicrogyria, Micropenis OMIM:300982
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip, Failure to thrive in infancy, Obesity OMIM:613670
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Happy demeanor, Cessation of head growth, Hyperactivity, Broad-based... ORPHA:411515
Pontocerebellar Hypoplasia, Type 15
Delayed social development, Dystonia, Hydrocephalus, Simplified gyral pattern, Agenesis of corpus... OMIM:619302
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogona... ORPHA:3085
Refsum Disease, Classic
Arrhythmia, Anosmia, Ataxia, Retinal degeneration, Increased CSF protein, Congestive heart failur... OMIM:266500
Gorlin Syndrome
Cryptorchidism, Wide nasal bridge, Cerebral calcification, Hypogonadotropic hypogonadism, Abnorma... ORPHA:377
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Dystonia, Abnormal periventricular white matter morphology, Bulbous nose, Hypo... OMIM:614066
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Bulbous nose, Failure to thrive ORPHA:261483
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Inguinal hernia, Hydrocele testis, Dilation of lateral ventricles ORPHA:85290
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellucidum, Anosmia... ORPHA:3157
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Short nose, Anteverted nares, Short columel... ORPHA:171839
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Aggressive behavior, Anteverted nares, Difficulty wal... ORPHA:464738
Prader-Willi Syndrome Due To Translocation
Skin-picking, Patent ductus arteriosus, Anterior pituitary hypoplasia, Head-banging, Cerebral cor... ORPHA:177907
Insulinoma
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of ... ORPHA:97279
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Aggressive behavior, Polyphagia, Hyperinsulinemia, No social intera... ORPHA:329249
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ventricul... OMIM:603472
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
48,Xxyy Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Infertility, Azoospermia, Hypergonadotropic hy... ORPHA:10
1Q21.1 Microduplication Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Failure to thrive, Hypospadias, Hydrocephalus... ORPHA:250994
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Failure to thrive in infancy, Cerebral cal... ORPHA:858
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Microce... ORPHA:1495
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ventriculomegaly, Abnormal cerebral white matter morphology, Weight loss, ... ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Ataxia OMIM:618383
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Wide nasal bridge, Cerebral cortical atrophy, Congenital hypot... ORPHA:352530
Warburg Micro Syndrome 1
Cryptorchidism, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Ex... OMIM:600118
Mental Retardation, Autosomal Dominant 20
Inability to walk, Abnormal periventricular white matter morphology, Short nose, Poor eye contact... OMIM:613443
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor, Prominent nose OMIM:616171
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Truncal ob... OMIM:616222
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Short ... ORPHA:457279
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Bulbous nose, Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Depressed n... ORPHA:480907
Cog5-Cdg
Camptodactyly of finger, Cryptorchidism, Truncal ataxia, Cerebral white matter atrophy, Wide nasa... ORPHA:263487
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Tachycardia, Increased body weight, Pa... ORPHA:276608
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Ventriculomegaly, Flexion ... OMIM:618291
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Hypogonadism, Truncal obesity, Pigmentary retinopathy OMIM:268050
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration, Obesity OMIM:615994
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Luscan-Lumish Syndrome
Shyness, Polyphagia, Aggressive behavior, Irregular menstruation, Ventriculomegaly, Polycystic ov... OMIM:616831
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Obesity ORPHA:276630
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Hypertension, Myocardial infarction, Congestive heart fai... OMIM:615703
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
17P13.3 Microduplication Syndrome
Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Tall stature, Inguinal hernia, H... ORPHA:217385
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Seconda... ORPHA:397951
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal insufficiency, Adrenoco... OMIM:609734
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, Ventriculomegaly, Cerebral calcification, Decreased response to growth hormone stim... ORPHA:1261
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Dysphagia, Anosmia, Papilledema, Wide nasal bridge OMIM:600679
Christianson Syndrome
Conspicuously happy disposition, Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Ap... ORPHA:85278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Pigmentary retinopathy, Left ventricular systolic dysfunction, Hypoplasia of the ... OMIM:613156
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Inability to walk, Overweight, Dysphagia, Ventriculom... OMIM:619229
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Neurofibrillary tangles, Apathy, Lewy bodies, Cerebral cortical atrophy, Dilation of ... OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Obesity OMIM:300238
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia, Steppage gait, Optic atrophy, Abnormality of ... OMIM:601152
Holoprosencephaly
Cryptorchidism, Dystonia, Spinal dysraphism, Choanal atresia, Omphalocele, Failure to thrive in i... ORPHA:2162
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Ventriculomegaly, Abnormal cerebral white matter morphology, Gait d... OMIM:300957
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotro... OMIM:614837
Histiocytoid Cardiomyopathy
Lethargy, Right bundle branch block, Hydrocephalus, Wolff-Parkinson-White syndrome, Atrial flutte... ORPHA:137675
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration, Broad nasal tip OMIM:612948
Caribbean Parkinsonism
Dystonia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxia, Ventri... ORPHA:97355
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Acromelic Frontonasal Dysostosis
Cryptorchidism, Broad nasal tip, Choroid plexus cyst, Gray matter heterotopia, Bifid nose, Hypopl... OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Optic nerve hypoplasia, Leukoencephalopathy, Retinal detac... OMIM:615181
Biemond Syndrome Type 2
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus, Obesity ORPHA:141333
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Abnormality of the optic disc, Congenital diaphragmatic... ORPHA:96121
Walker-Warburg Syndrome
Cryptorchidism, Pachygyria, Chorioretinal dysplasia, Agenesis of corpus callosum, Absent septum p... ORPHA:899
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Dandy-Walker Syndrome
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Mosaic Trisomy 1
Camptodactyly of finger, Penile hypospadias, Omphalocele, Wide nasal bridge, Polymicrogyria, Cong... ORPHA:1692
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Abnormal cerebral white matter morphology, Flexion contracture, Gait ... ORPHA:35069
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Ventriculomegaly, Telangiectasia of the skin, Polymicrogyria, Cerebral ischemia, Fail... ORPHA:60040
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Anosmia, Primary amenorrhea, Hyposmia, Hypogonadotropic hy... OMIM:612702
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Ataxia, Cerebral calcification, Cachexia, Decreased nerve conduction velocity, ... ORPHA:1933
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Periventricular he... OMIM:618476
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Angelman Syndrome
Inability to walk, Polyphagia, Aggressive behavior, Broad-based gait, Dysphagia, Poor eye contact... ORPHA:72
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Eunuchoid habit... ORPHA:261534
Cebalid Syndrome
Short nose, Polyphagia, Polymicrogyria, Congenital diaphragmatic hernia, Depressed nasal ridge, A... OMIM:618774
Pontocerebellar Hypoplasia, Type 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Opt... OMIM:615809
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Ventriculomegaly, Cerebral atrophy, Failure to thrive, Microcephaly OMIM:616034
Superficial Siderosis
Dysdiadochokinesis, Internal hemorrhage, Enlarged sylvian cistern, Progressive gait ataxia, Limb ... ORPHA:247245
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Gray matt... ORPHA:370959
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Erectile dysfunction, Gait dist... ORPHA:478
Clark-Baraitser Syndrome
Depressed nasal bridge, Short nose, Obesity OMIM:617752
Choreoacanthocytosis
Hair-pulling, Weight loss, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressi... ORPHA:2388
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pitui... ORPHA:2183
Nasu-Hakola Disease
Ventriculomegaly, Cerebral cortical atrophy, Abnormal adipose tissue morphology, Irritability, Ce... ORPHA:2770
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Pierpont Syndrome
Cryptorchidism, Ventriculomegaly, Abnormal subcutaneous fat tissue distribution, Primary microcep... ORPHA:487825
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Flexion contracture, Retinal degeneration, Ag... OMIM:615249
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge, Obesity OMIM:611936
Trisomy 5P
Obesity, Ventriculomegaly, Hypoplasia of penis ORPHA:1742
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Umbilical... ORPHA:1516
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, C... OMIM:610333
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Frontotemporal Dementia
Polyphagia, Apathy, Diminished motivation, Amyotrophic lateral sclerosis, Irritability OMIM:600274
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Premature pubarche, Hypothyroidism, Gait disturbance, ... OMIM:616878
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Contractures of the interphalangeal joint of the thumb, Bulbous nose, Short nose, Patent ductus a... OMIM:613870
Abcd Syndrome
Hypopigmentation of the fundus, Large for gestational age, Aganglionic megacolon, Abnormal audito... OMIM:600501
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy OMIM:615147
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Anosmia, Rod-cone dystrophy, Ataxia OMIM:614879
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia, Delayed pu... OMIM:176270
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Hydrolethalus
Cryptorchidism, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormalit... ORPHA:2189
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Ventriculomegaly, Optic atrophy OMIM:613151
Macdermot-Winter Syndrome
Microcephaly, Ventriculomegaly, Camptodactyly of finger, Hypoplastic male external genitalia OMIM:247990
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Ventriculomegaly, Flexion contracture, Cerebral cortical atrophy, Microcephaly OMIM:618298
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Camptodactyly of finger, Ventriculomegaly, Ataxia, Ce... ORPHA:48431
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Optic atrophy, Corpus callosum atrophy, Dysmetria OMIM:616680
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Anxiety, Congenital diaphragmatic hernia, Hydrocephalus... ORPHA:261102
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Subcortical heterotopia, Polymicro... OMIM:614483
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Absence of secondary sex characteristics, Primary ame... ORPHA:2235
Scheie Syndrome
Depressed nasal bridge, Retinal degeneration, Wide nose OMIM:607016
Glutaric Acidemia I
Failure to thrive, Dilation of lateral ventricles, Dystonia OMIM:231670
Developmental And Epileptic Encephalopathy 59
Inability to walk, Ventriculomegaly, Self-injurious behavior OMIM:617904
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Difficulty walking, Ventriculomegaly, Abnormal cerebral white matter morphology, Toe ... OMIM:606612
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Diabetes mellitus, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive truncal ataxia, Progressive gait ataxia, Difficulty walking, Vent... ORPHA:363429
Cornelia De Lange Syndrome 5
Prominent nasal bridge, Cryptorchidism, Anteverted nares, Ventriculomegaly, Decreased testicular ... OMIM:300882
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria, Mitral regurgitation, Abnormal nasal morphology, D... ORPHA:83473
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Abnormality of retinal pigmentation, Dystonia, Arrhythmia, Gait disturbance, ... ORPHA:96
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Inability to walk by childhood/adolescence, Steppage gait, Optic atrophy, Hy... ORPHA:99947
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Short nose, Hypothyroidism, Ventriculomegaly, Gait dis... ORPHA:819
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ventriculomegaly, Cerebral atrophy, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis... OMIM:618164
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Pulmonic stenosis, Optic nerve hypoplasia, Abnormal lateral ve... OMIM:615280
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Obesity, Apathy, Ventri... ORPHA:96147
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Hyp... ORPHA:457260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Abnormality of retinal pigmentation, Short nose, Flexion contracture, Patent d... ORPHA:505248
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal CSF biopterin level, Ventricu... ORPHA:255
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimuation test,... OMIM:606407
Atkin-Flaitz Syndrome
Anteverted nares, Broad nasal tip, Obesity ORPHA:1193
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Inguinal hernia, Abnormality of male internal genitalia, Abnormal circu... OMIM:261550
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Hereditary Late-Onset Parkinson Disease
Dystonia, Orthostatic hypotension due to autonomic dysfunction, Akinesia, Dysphagia, Apathy, Lewy... ORPHA:411602
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Increased CSF lactate, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral at... OMIM:617248
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Ventriculomegaly, Patent ductus arteriosus, Small for gestational age, Agenesis of corp... OMIM:610498
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Aggressive behavior, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnorma... ORPHA:485350
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Ventriculomegaly, Hypertension, Ataxia, Emotional labili... OMIM:206570
Chromosome 19P13.13 Deletion Syndrome
Ventriculomegaly, Self-injurious behavior, Overgrowth, Optic nerve hypoplasia, Microcephaly, Opti... OMIM:613638
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Hypop... ORPHA:449285
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Arrhythmia, Aortic regurgitation, Hypothyroid... ORPHA:254346
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400