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 placenta vasculature Bbs1em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HOM E15.5 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 morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
small heart Bbs1em1(IMPC)Mbp HET Early adult 0.00
edema Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Bbs1em1(IMPC)Mbp HOM   Early adult 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
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal bloo... OMIM:615990
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Lipedema
Edema OMIM:614103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Ventriculomegaly, Microcephaly, Simplified g... ORPHA:329228
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cach Syndrome
Cerebral atrophy, Premature ovarian insufficiency, Dysmetria, Primary amenorrhea, Optic neuritis,... ORPHA:135
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:615995
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Optic atrophy ORPHA:2732
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Flexion contracture, Poor eye contact, Microcephaly, Hydrocephalus, Anteverted ... OMIM:300884
Bardet-Biedl Syndrome 19
Hyposmia, Rod-cone dystrophy, Obesity OMIM:615996
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Stargardt Disease 3
Macular flecks, Macular dystrophy, Macular atrophy OMIM:600110
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity OMIM:615989
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Orthostatic hypotension, Retinal degeneration, Abnormal substa... ORPHA:2822
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Obesity, Ataxia, Unsteady gait, Microcephaly, Increased CSF lacta... OMIM:614947
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Martsolf Syndrome 2
Broad nasal tip, Hypogonadotropic hypogonadism, Decreased body weight, Microcephaly, Hypoplasia o... OMIM:619420
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Obesity, Retinal detachment, Retinal d... OMIM:616188
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Dextrocardia OMIM:221950
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia, Microcephaly, Cortical dysplasia, ... OMIM:618709
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Failure to thrive in infancy, Ventriculomegaly, Microcephaly, Simplified g... OMIM:617800
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormality of the external ... ORPHA:141091
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Microcephaly, Simplified gyral pattern, Periventricular white matter hyperin... OMIM:619470
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Polymicrogyria, Bilateral cryptorchidism, Dilation of lateral ventricles, Anteverted ... OMIM:300982
Huntington Disease
Degeneration of the striatum, Aggressive behavior, Apathy, Decreased body mass index, Polyphagia,... ORPHA:399
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Hyperin... ORPHA:565624
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Lissencephaly, Thick cerebral cortex, Hypoplasia of the corpus callosum, Delaye... OMIM:618677
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Flexion contracture, Agenesis of corpus callosum, Basal ganglia cysts, Basal ga... ORPHA:79243
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:615987
Malan Overgrowth Syndrome
Anxiety, Ventriculomegaly, Optic disc hypoplasia, Depressed nasal bridge, Optic disc pallor, Hypo... ORPHA:420179
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Bulbous nose, Small cerebral cortex, Ventriculomegaly, ... ORPHA:2185
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Ventriculomegaly, Cortical dysplasia, Hypoplasia of the corpus callosum OMIM:615763
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Mehmo Syndrome
Broad nasal tip, Small for gestational age, Delayed puberty, Micropenis, Inability to walk, Obesi... OMIM:300148
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Retinal dysplasia, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalu... OMIM:613154
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Obesity, Retinal dystrophy OMIM:605231
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Ventriculomegaly, ... ORPHA:1083
Lissencephaly 1
Agyria, Ventriculomegaly, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, P... OMIM:607432
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Gray matter hete... OMIM:604213
Intellectual Developmental Disorder, Autosomal Dominant 48
Anteverted nares, Dilated fourth ventricle, Microcephaly, Prominent nasal bridge, Polymicrogyria,... OMIM:617751
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Peripheral tr... OMIM:143200
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Ankle flexion contracture, Primary microcephaly, Simplified gyral p... ORPHA:284417
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Bardet-Biedl Syndrome 22
Macular hypopigmentation, Large for gestational age, Obesity, Microcephaly, Rod-cone dystrophy, P... OMIM:617119
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Ataxia, Apathy, Irritability, Hydrocephalus ORPHA:99966
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Truncal obesity ORPHA:75858
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Obesity, Macular dystrophy OMIM:615983
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus ca... OMIM:618890
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Cerebral atrophy, Impaired social interactions, Ventriculomegaly OMIM:617051
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Ventriculomegaly, Microcephaly, Simplified gyral pattern, Pachygyria, Arthro... OMIM:618397
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Subcortical band heteroto... OMIM:600348
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Dilated fourth ventricle, Small for gestational age... ORPHA:3078
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Pigmentary retinopathy, Pachygyria, Ventriculomegaly OMIM:617613
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy, Lethargy, Microcephaly, Failure to thrive, Gait disturbance ORPHA:26
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Thin corpus callosum, Obesity, Wide nasal bridge, Aggressive behavior, Self-mut... OMIM:616521
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615993
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Glutamine Deficiency, Congenital
Flexion contracture, Decreased CSF glutamine concentration, Bradycardia, Wide nasal bridge, Depre... OMIM:610015
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Enlarged sylvian cistern ORPHA:1084
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Optic atrophy, Hydrocephalus ORPHA:1538
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71526
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Bradykinesia, Difficulty walking ORPHA:306669
Bardet-Biedl Syndrome 21
Retinal thinning, Hypoplasia of the fovea, Obesity, Overweight, Retinal atrophy, Rod-cone dystrop... OMIM:617406
Porencephaly
Porencephalic cyst, Ventriculomegaly ORPHA:2940
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Gray matter heterotopia, Microceph... OMIM:611603
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly, Dandy-Walker malformation, Spi... OMIM:618736
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Lissencephaly, Type II lissencephaly, Small basal ganglia, Dilation of la... ORPHA:300570
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Loss of ability to walk, Anxiety, Focal T2 hyperintense t... ORPHA:79264
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Gait ataxia, Flexion contracture of toe, Camptodactyly of finger, Optic atrophy OMIM:619323
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Retinal dysplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Self-injurious behavior, Abnormal hippocampus morphology, Oral-pharyngeal dysph... ORPHA:178469
Hernández-Aguirre Negrete Syndrome
Obesity, Bulbous nose ORPHA:2139
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Inability to walk, Obesity, Ataxia, Microcephaly, Hypoplasia of the corpus call... OMIM:616756
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Cerebral cortical atr... ORPHA:2703
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Hydrocephalus,... OMIM:617281
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the co... OMIM:618730
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Mental Retardation, X-Linked 91
Obesity, Short nose OMIM:300577
Fried Syndrome
Cerebral calcification, Abnormality of the optic nerve, Aggressive behavior, Gait disturbance, Hy... ORPHA:85335
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral atrophy, Ventriculomegaly OMIM:612900
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Dysmetria, Dilated fourth ventricle, Athetosis, Ataxia, Leukoencephalopathy, Ve... ORPHA:572798
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Gray matter heterotopia, Subcortical ... OMIM:615191
Alg13-Cdg
Anteverted nares, Poor eye contact, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Wide nasal bridge, Microcephaly, Abnormal basal g... ORPHA:79326
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Spastic gait, Dilated third ventricle, Obesity, Optic nerve dysplasia, Partial ... OMIM:617296
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus, Type II lissencephaly,... ORPHA:352682
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Abnormality of thalamus morphology, Abnormal motor neuron morphology, Hyposmia, Leuk... OMIM:613724
Microcephaly, Seizures, And Developmental Delay
Progressive microcephaly, Ventriculomegaly, Ataxia, Microcephaly, Simplified gyral pattern, Hypop... OMIM:613402
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Peho-Like Syndrome
Progressive microcephaly, Ventriculomegaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus c... OMIM:617507
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Depressed nasal bridge, Obesity OMIM:615984
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Flexion contracture, Cerebral white matter atrophy, ... ORPHA:2148
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Ventriculomegaly, Microcephaly, Failure to thrive, H... OMIM:619701
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly, Aggressive behavior OMIM:612691
Bowen-Conradi Syndrome
Cryptorchidism, Ventriculomegaly, Microcephaly, Camptodactyly of finger, Prominent nose ORPHA:1270
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Recurrent upper respiratory tract infections, Delayed puberty, ... OMIM:614963
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Increased circulating T4 level, Decreased circulating free T3, Abnormal circulating insu... ORPHA:171706
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615982
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Multifocal cerebral white matter a... ORPHA:488627
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Flexion contracture, Aplasia/Hypoplasia of the corpus callosum, Retinal d... ORPHA:272
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal hippocampus morphology, Hypoplastic hippocampus, Oral-pharyngea... ORPHA:208447
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Inability to walk, Gait ataxia, Microcephaly, Dandy-Walker malformation,... OMIM:618606
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Obesity, Decr... ORPHA:179494
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Retinal degeneration, Ventriculomegaly, Ataxia, Decreased response to gro... OMIM:225755
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Diffuse swelling of cerebral white matter, Ataxia, Ventriculomegaly, Megalencep... OMIM:613925
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Thick nasal alae, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:163961
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Retinal degeneration, Agenesis of corpus callosu... OMIM:604360
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Leukoence... OMIM:619244
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Dysphagia... OMIM:617669
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Obesity OMIM:617885
Pineocytoma
Hydrocephalus, Episodic ataxia, Increased CSF protein, Difficulty walking ORPHA:251912
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Agenesis of corpus callosum, Ve... OMIM:300952
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Microcephaly, Obesity, Emotional lability, Cryptorchidism OMIM:309585
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Type I diabetes mellitus,... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Maternal diabetes, Hyperi... ORPHA:276580
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Type II lissencephaly ORPHA:324416
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Ventriculomegaly, Gray matter heterotopia, Microcephaly, Pachygyria,... ORPHA:370980
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Alexander Disease
Increased CSF protein, Ataxia, Hydrocephalus OMIM:203450
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Hypothyroidism, Weight loss, Portal hypertension, Micro... OMIM:619487
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Bradykinesia, Scissor gait, Diffuse cerebral atrophy, Dilation of latera... ORPHA:363654
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Cryptorchidism, Loss of ability to walk, Micropenis, Ventriculomegal... ORPHA:370968
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide nasal bridge, Ventriculomegaly, Microcephaly, Cer... ORPHA:3207
Gm1-Gangliosidosis, Type Ii
Cerebral atrophy, Ventriculomegaly, Ataxia, Gait disturbance, Optic atrophy OMIM:230600
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Flexion contracture, Self-injurious beh... OMIM:304340
Slc35A2-Cdg
Cerebral atrophy, Failure to thrive in infancy, Hypoplastic hippocampus, Inability to walk, Cereb... ORPHA:356961
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Maternal diabetes, Small ... ORPHA:324575
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Abnormality of retinal pigmentation, Abnormal retina... ORPHA:791
Hsd10 Disease
Abnormal social behavior, Ventriculomegaly, Ataxia, Microcephaly, Dysphagia, Gait disturbance, Fr... ORPHA:391417
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Hypertension, Type II diabetes mellitus, Chi... ORPHA:71529
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Aicardi Syndrome
Hiatus hernia, Chorioretinal lacunae, Choroid plexus cyst, Cavum septum pellucidum, Dilated third... OMIM:304050
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Dilation of lateral ventricles, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615981
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Obesity, Decr... ORPHA:66628
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Hemim... ORPHA:99802
Craniopharyngioma
Abnormal hypothalamus morphology, Abnormal nasal bone morphology, Central adrenal insufficiency, ... ORPHA:54595
Pseudo-Torch Syndrome 2
Cerebral calcification, Patent ductus arteriosus, Bradycardia, Ventriculomegaly, Gray matter hete... OMIM:617397
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Ventriculomegaly, Microcephaly, Simplified gy... OMIM:608716
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Primary amenorrhea, Micropenis, Obesity, Polyphagia... OMIM:614962
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Narcolepsy Type 1
Obesity ORPHA:2073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Micropenis, Occipital encephalocele, Anencephaly, Retinal dysplasia,... OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Retinal detachment, Ventriculomegaly, Dandy-Walker malformation, Lissencephaly, Pachygyri... OMIM:613153
Masa Syndrome
Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum, Gait disturbance ORPHA:2466
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Bulbous nose, Abdominal obesity, Cryptorchidism, Micropenis, Mood swings, Ventriculomegaly, Aggre... OMIM:300354
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Po... ORPHA:250972
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Immunodeficiency 61
Recurrent sinusitis, Obesity OMIM:300310
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Hypertrophic cardiomyopat... ORPHA:276556
Narp Syndrome
Retinal arteriolar tortuosity, Ventriculomegaly, Ataxia, Retinal pigment epithelial mottling, Rod... ORPHA:644
Short Stature-Obesity Syndrome
Narrow nose, Obesity, Prominent nasal bridge OMIM:269870
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Dilation of lateral ventricles, Multifocal cerebral white m... OMIM:600721
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Small for gestational age OMIM:275400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic gait, Progressive microcephaly, Inability to walk, Ventriculomegaly, Microcephaly, Hypopl... OMIM:616486
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Flexion contracture, Inability to walk, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus ... OMIM:617977
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Bulbous nose, Ventriculomegaly, Microcephaly, Simplified gyral patte... OMIM:617090
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Ventriculomegaly, Lethargy, Failure to thrive, Optic atrophy OMIM:618228
Krabbe Disease
Increased CSF protein, Decreased nerve conduction velocity, Failure to thrive, Diffuse cerebral a... OMIM:245200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Progressive microcephaly, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Hypoplasia of the ... OMIM:617862
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Depressed nasal bridge, Hypoplasia of the cor... ORPHA:488635
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Joint contracture of the 5th finger, Pulmonic stenosis, Aggressive behav... OMIM:618914
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Inguinal hernia, Cerebral cortical atrophy, Ventriculomegaly ORPHA:1568
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cystoid macular edema, Rod-cone dystrophy,... OMIM:611040
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Bardet-Biedl Syndrome 17
Anosmia, Retinal degeneration, Micropenis, Hyposmia, Obesity, Rod-cone dystrophy, Macular atrophy... OMIM:615994
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal degeneration, Obesity, Chorioretinal atrophy OMIM:303110
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Cone/cone-ro... OMIM:614500
Central Precocious Puberty
Hypothalamic hamartoma, Overgrowth, Obesity, Isosexual precocious puberty, Hydrocephalus, Prematu... ORPHA:759
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Obesity, Failure to thrive in infancy OMIM:613670
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Bulbous nose, Ventriculomegaly, Gray matter heterotopi... OMIM:615219
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Cavum septum pellucidum, Overgrowth, Ventriculomegaly, Depressed nasal bridge, Megalencep... OMIM:602501
Skraban-Deardorff Syndrome
Happy demeanor, Spastic gait, Ventriculomegaly, Depressed nasal bridge, Hypoplasia of the corpus ... OMIM:617616
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Xq12-Q13.3 Duplication Syndrome
Recurrent upper respiratory tract infections, Cryptorchidism, Abnormality of visual evoked potent... ORPHA:314389
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Retinal degeneration, Optic atrophy OMIM:256730
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Retinal dyst... ORPHA:397715
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Bulbous nose, Hyper... ORPHA:544488
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum, Arthrogryposis multiplex congenita OMIM:619501
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Hydr... ORPHA:1672
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Patent ductus arteriosus, Wide nasal bridge, Dandy-Walker malformation,... OMIM:220220
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Rod-cone dystrophy, Hydrocephalus, Retinal coloboma, Hypogonadism OMIM:601794
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventriculomegaly ORPHA:2515
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Perisylvian polymicrogyria, Inability to walk, Obesity, Ataxia, Unsteady gait, ... OMIM:618443
Distal Monosomy 10Q
Patent ductus arteriosus, Cavum septum pellucidum, Anxiety, Wide nasal bridge, Ataxia, Aggressive... ORPHA:96148
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Masa Syndrome
Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:303350
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of the corpus ... OMIM:617255
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, D... OMIM:308700
Bardet-Biedl Syndrome 9
Irregular menstruation, Retinal degeneration, Polydipsia, Obesity, Truncal obesity, Rod-cone dyst... OMIM:615986
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Small for gestational age, Fl... OMIM:312170
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Bulbous nose, Truncal obesity ORPHA:261483
Congenital Toxoplasmosis
Cerebral calcification, Failure to thrive in infancy, Abnormality of retinal pigmentation, Ventri... ORPHA:858
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Anencephaly 2
Anophthalmia OMIM:619452
Summitt Syndrome
Obesity OMIM:272350
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Anosmia, Hypothyroidism, Depressed nasal ridge, Ar... ORPHA:442
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Glandular hypospadias, Choroid plexus cyst, Bulbous nose, Br... ORPHA:293725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Obesity, Cerebral white matter atrophy, Ataxia, ... ORPHA:464282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Abnormality of retinal pigmentatio... ORPHA:3085
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles, Hydrocele testis, Inguinal hernia ORPHA:85290
Refsum Disease, Classic
Anosmia, Retinal degeneration, Increased CSF protein, Arrhythmia, Congestive heart failure, Ataxi... OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anosmia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Diabe... ORPHA:3157
Bainbridge-Ropers Syndrome
Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Choanal stenosis, Self-injurious beha... OMIM:615485
Neuronal Intranuclear Inclusion Disease
Increased CSF protein, Ventriculomegaly, Ataxia, Decreased sensory nerve conduction velocity, CSF... OMIM:603472
Insulinoma
Hyperinsulinemia, Pituitary prolactin cell adenoma, Anxiety, Primary hyperparathyroidism, Neoplas... ORPHA:97279
Macular Degeneration, Age-Related, 3
Drusen, Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity OMIM:608895
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge, Abnorma... ORPHA:377
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Hyperinsulinemia, No social interaction, Obesity, Aggressive behavi... ORPHA:329249
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Patent ductus arteriosus, Cryptorchidism, Micropenis, Obesity, Depressed nasal ... ORPHA:171839
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Anteverted nares, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated... ORPHA:464738
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Wide nasal bridge, Congenital stationary night blindness, Congenital hypothyroidism, Mic... ORPHA:352530
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly of finger, Optic... ORPHA:1495
Gabriele-De Vries Syndrome
Cryptorchidism, Waddling gait, Ventriculomegaly, Abnormal cerebral white matter morphology OMIM:617557
X-Linked Acrogigantism
Abnormality of optic chiasm morphology, Diabetes insipidus, Delayed puberty, Increased serum insu... ORPHA:300373
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Macular atrophy, Optic atrophy, Prominent nose OMIM:616171
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Ataxia OMIM:618383
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Temple Syndrome
Flexion contracture, Small for gestational age, Cryptorchidism, Overweight, Truncal obesity, Depr... OMIM:616222
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration OMIM:618195
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Wide nasal bridge, Hydrocephalus OMIM:209970
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Ventriculomegaly, Cerebral cortical atrophy, Arthrogryposis multiplex congen... OMIM:618291
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Pigmentary retinopathy, Hypogonadism, Truncal obesity OMIM:268050
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Lethargy, Tachycardia, Hyperinsulinemic hypo... ORPHA:276608
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Optic atrophy, Cryptorchidism, Perisylvian polymic... OMIM:600118
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Caudate atrophy, Wide nasal bridge, Ventriculomegaly, Ataxia, Tempo... ORPHA:137831
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapillary choriore... OMIM:613750
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, Hydroce... ORPHA:397951
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Low frustration tolerance, Cavum septum pellucidum, Contract... ORPHA:457279
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Obesity ORPHA:276630
Luscan-Lumish Syndrome
Long nose, Irregular menstruation, Polycystic ovaries, Anxiety, Obesity, Ventriculomegaly, Aggres... OMIM:616831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal insufficiency, Obesity, Adrenocorticotropic hormone deficiency, ... OMIM:609734
Spastic Paraplegia 47, Autosomal Recessive
Flexion contracture, Bulbous nose, Inability to walk, Wide nasal bridge, Ventriculomegaly, Microc... OMIM:614066
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Simplified gyral pattern, H... OMIM:619302
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Obesity, Ataxia, Cessation of head growth, Polyphagia, Broad-based gait ORPHA:411515
48,Xxyy Syndrome
Infertility, Tall stature, Cryptorchidism, Azoospermia, Anxiety, Obesity, Ventriculomegaly, Ataxi... ORPHA:10
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Inability to walk, Obesity, At... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal cerebral white matter morphology, Inability to walk, Ventriculomegaly, Poor eye contact,... OMIM:613443
Morbid Obesity And Spermatogenic Failure
Infertility, Congestive heart failure, Azoospermia, Obesity, Myocardial infarction, Oligospermia,... OMIM:615703
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Agenesis of corpus callosum, Patent ductus arteriosus, Persistent fetal circulati... OMIM:612863
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Anosmia, Wide nasal bridge, Papilledema, Dysphagia, Nasal congestion OMIM:600679
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Abnormality of visual evoked potentials, Steppage gait, Decreased motor nerve conduction... OMIM:601152
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Cryptorchidism, Anxiety, Ventriculomegaly, Truncal obesity, Microcepha... OMIM:300957
Cog5-Cdg
Camptodactyly of finger, Cryptorchidism, Micropenis, Cerebral white matter atrophy, Wide nasal br... ORPHA:263487
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Hypotension, Abnormal autonomic nervous system physiology, Polyphagia,... ORPHA:369873
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Decreased response to growth hormone stimulation test, Vent... ORPHA:1261
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad nasal tip, Macular degeneration OMIM:612948
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Depressed nasal bridge, Hypoplasia ... ORPHA:444002
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Cryptorchidism, Micropenis, Ventricul... OMIM:613156
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Azoospermia,... OMIM:614837
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Pontocerebellar Hypoplasia, Type 9
Progressive microcephaly, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Hypoplasia o... OMIM:615809
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Apathy, Lewy bodies, Cerebral cortical atrophy, Polyphagia, Dilation of ... OMIM:607485
Acromelic Frontonasal Dysostosis
Broad nasal tip, Agenesis of corpus callosum, Choroid plexus cyst, Bifid nasal tip, Hypopituitari... OMIM:603671
Walker-Warburg Syndrome
Abnormal cortical gyration, Retinal dystrophy, Agenesis of corpus callosum, Chorioretinal dysplas... ORPHA:899
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Ventriculomegaly, Telangiectasia of the skin, Depressed nasal bridge, Failure to thri... ORPHA:60040
47,Xyy Syndrome
Impaired social interactions, Varicocele, Cryptorchidism, Azoospermia, Micropenis, Increased seru... ORPHA:8
Histiocytoid Cardiomyopathy
Shortened PR interval, Agenesis of corpus callosum, Polycystic ovaries, Congestive heart failure,... ORPHA:137675
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalus ORPHA:73256
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Arrhythmia, Optic atrophy, Ataxia, Retinal vascular tortuosity, Retina... ORPHA:104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Polymicrogyria, Hydrocephalus, Type II lissencephaly,... OMIM:615181
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Underdeveloped nasolabial fold, Abnormal social behavior, External genital hypop... ORPHA:177907
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220200
17P13.3 Microduplication Syndrome
Hypoplasia of penis, Ventriculomegaly, Inguinal hernia, Hypoplasia of the corpus callosum, Wide n... ORPHA:217385
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Abnormality of visual evoked potentials, Ventriculomegaly, Ataxia, Decrea... ORPHA:1933
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Hydrocephalus, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Agenesis of corpus callosum, Cryptorc... OMIM:147950
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism... OMIM:612702
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
1Q21.1 Microduplication Syndrome
Cryptorchidism, Failure to thrive, Arthrogryposis multiplex congenita, Hydrocephalus, Hypospadias ORPHA:250994
Holoprosencephaly
Diabetes insipidus, Failure to thrive in infancy, Panhypopituitarism, Aplasia/Hypoplasia of the c... ORPHA:2162
Superficial Siderosis
Abnormal corpus callosum morphology, Dysmetria, Anosmia, Increased CSF protein, Ataxia, Unsteady ... ORPHA:247245
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Occipital encephalocele, Retinal detachmen... ORPHA:370959
Cebalid Syndrome
Depressed nasal ridge, Congenital diaphragmatic hernia, Depressed nasal bridge, Polyphagia, Polym... OMIM:618774
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Juvenile Huntington Disease
Abnormal cerebral white matter morphology, Bradykinesia, Ataxia, Ventriculomegaly, Progressive ce... ORPHA:248111
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Broad nasal tip, Bulbous nose, Oral-pharyngeal dysphagia, Obesity, Microcephaly, Lipoma, Depresse... ORPHA:480907
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, D... OMIM:308750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Periventricular heterotopia, Ventriculomegaly, Ataxia, Abnormal peri... OMIM:618476
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, O... OMIM:618613
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Obesity, Hydrocephalus, Hypergonadot... ORPHA:2183
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
7Q11.23 Microduplication Syndrome
Broad nasal tip, Cryptorchidism, Aggressive behavior, Inguinal hernia, Abnormality of the optic d... ORPHA:96121
Christianson Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the nose, Conspicuously happy dispositi... ORPHA:85278
Clark-Baraitser Syndrome
Depressed nasal bridge, Obesity, Short nose OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Bulbous nose OMIM:300238
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, Bradykinesia, Ventriculomegaly, Abnormal ... ORPHA:97355
Mosaic Trisomy 1
Penile hypospadias, Agenesis of corpus callosum, Elbow flexion contracture, Micropenis, Wide nasa... ORPHA:1692
Nasu-Hakola Disease
Cerebral calcification, Ventriculomegaly, Abnormal adipose tissue morphology, Irritability, Cereb... ORPHA:2770
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Recurrent upper respiratory tract ... ORPHA:261534
Developmental And Epileptic Encephalopathy 97
Inability to walk, Ventriculomegaly OMIM:619561
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anosmia, P... ORPHA:478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Progressive microcephaly, Agenesis of corpus callosum, Flexion cont... OMIM:615249
Trisomy 5P
Obesity, Hypoplasia of penis, Ventriculomegaly ORPHA:1742
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Patent ductus arteriosus, Micropenis, Aganglionic megacolon, Abnormal autonomic ner... OMIM:613870
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Ventriculomegaly, Knee flexion contracture, Unilateral wrist flexion ... OMIM:616531
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Chromosome 3Q29 Duplication Syndrome
Short nose, Obesity, Wide nasal bridge, Bulbous nose OMIM:611936
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Inability to walk, Ventriculomegaly OMIM:617904
Scheie Syndrome
Wide nose, Depressed nasal bridge, Retinal degeneration OMIM:607016
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Flexion contracture, Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence, Op... ORPHA:99947
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Pierpont Syndrome
Abnormal cortical gyration, Small for gestational age, Cryptorchidism, Ventriculomegaly, Primary ... ORPHA:487825
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Spastic Paraplegia 75, Autosomal Recessive
Ventriculomegaly, Dysmetria, Corpus callosum atrophy, Optic atrophy OMIM:616680
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Anosmia, Cardiomyopathy, Ataxia OMIM:614879
Frontotemporal Dementia
Apathy, Irritability, Polyphagia, Amyotrophic lateral sclerosis, Diminished motivation OMIM:600274
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomegaly, Partial... ORPHA:85179
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Underdeveloped nasal alae, Wide nasa... ORPHA:1516
Hydrolethalus
Agenesis of corpus callosum, Cryptorchidism, Anencephaly, Abnormality of the sense of smell, Abno... ORPHA:2189
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Rod-cone dystrophy, Retinal atrophy, Wide nasal bridge OMIM:610127
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Ventriculomegaly, Polymicrogyria, In... OMIM:614483
Angelman Syndrome
Cerebral dysmyelination, Happy demeanor, Precocious puberty in females, Self-injurious behavior, ... ORPHA:72
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hyperintensity of cerebral white matter on MRI, Cerebral dysmyelination, Increased CSF protein, V... OMIM:611722
Abcd Syndrome
Large for gestational age, Hypopigmentation of the fundus, Abnormal auditory evoked potentials, A... OMIM:600501
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Megalencephaly, Hydrocephalus, Mitral regurgitation, Polymicrogyria, Abno... ORPHA:83473
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Macdermot-Winter Syndrome
Microcephaly, Camptodactyly of finger, Ventriculomegaly, Hypoplastic male external genitalia OMIM:247990
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cerebral atrophy, Patent ductus arteriosus, Ventriculomegaly, Pulmonic stenosis, Umbilical hernia... OMIM:618164
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Hypothyroidism, Ventricular fibrillation, Premature pubarche, Torsade de pointe... OMIM:616878
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly, Cerebral cortical atrophy, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysmetria, Multiple joint contractures, Ventriculomegaly, Progressive cerebellar ataxia, Progress... ORPHA:363429
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Depressed nasal bridge, Failure to thrive, Polyphagia, Facial pal... OMIM:606407
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Dilated third ventricle, Self-injurious behavior, Overweight, Failure to thrive, De... OMIM:619575
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Dysmetria, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, Ca... ORPHA:48431
Infantile Neuroaxonal Dystrophy
Iron accumulation in globus pallidus, Choking episodes, Flexion contracture, Abnormality of visua... ORPHA:35069
Developmental And Epileptic Encephalopathy 70
Flexion contracture, Cryptorchidism, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy OMIM:618298
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Cryptorchidism, Abnormal external genitalia, Aggressive behavior, Congenital hypo... OMIM:607872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Ventriculomegaly, Microcephaly, Pachygyria, Tip-toe gait, Facial pal... OMIM:606612
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome