Gene Summary

Name:
Bardet-Biedl syndrome 1
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
microphthalmia Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Bbs1em1(IMPC)Mbp HET 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
edema Bbs1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal heart morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Bbs1em1(IMPC)Mbp HET Early adult 0.00
edema Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Bbs1em1(IMPC)Mbp HOM 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

80 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Gross Morphology Embryo E14.5-E15.5

Images

21 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Obesity, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615990
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Lipedema
Edema OMIM:614103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal blood vessel... OMIM:616188
Cach Syndrome
Optic atrophy, T2 hypointense thalamus, Premature ovarian insufficiency, Irritability, Gonadal dy... ORPHA:135
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome 14
Obesity, Rod-cone dystrophy OMIM:615991
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Band Heterotopia
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... OMIM:600348
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Bardet-Biedl Syndrome 10
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Polymicrogyria, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis OMIM:300982
Martsolf Syndrome 2
Decreased body weight, Camptodactyly, Camptodactyly of finger, Broad nasal tip, Lateral ventricle... OMIM:619420
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Joubert Syndrome 3
Retinal dystrophy, Anteverted nares, Frontal polymicrogyria, Enlarged fossa interpeduncularis, At... OMIM:608629
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ventriculomegaly, Ataxia, Chorioretinal coloboma ORPHA:2732
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia OMIM:615524
Morm Syndrome
Retinal atrophy, Truncal obesity, Retinal dystrophy ORPHA:75858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Hydrocephalus, Elbow flexion contracture, Simplif... OMIM:619470
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Abnormal neuron morphology, Simplified gyral pattern ORPHA:329228
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Flexion contracture of toe, Gait ataxia, Camptodactyly of finger, Inappropriate la... OMIM:619323
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Congenital contracture, Ataxia, Dysphagia, Lateral ventricle dilatation, Degeneratio... OMIM:607596
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Gray matter heterotopia, Attention deficit hyperactivit... ORPHA:300573
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Abnormal upper motor neuron morphology, Gait disturbance, Disinhibition, ... OMIM:221770
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus,... OMIM:609637
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Premature ovarian insufficiency, Ataxia, Lateral ventricle dilatation OMIM:615889
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ataxia, Motor stereotypy, Attention deficit hyp... OMIM:618709
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Ventriculomeg... OMIM:604213
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Lateral ventricle dilatation, Bradykinesia ORPHA:306669
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Obesity OMIM:615983
Congenital Hydrocephalus
Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculo... ORPHA:2185
Huntington Disease
Bradykinesia, Irritability, Agitation, Decreased body mass index, Difficulty walking, Gait imbala... ORPHA:399
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Inability to walk, Anteverted nares, Dilated fourth ventricle, Lateral ventricle dila... OMIM:613443
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Polyrrhinia
Abnormal nasal bone morphology, Abnormal external nose morphology, Abnormal third ventricle morph... ORPHA:141091
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy... OMIM:617800
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Tachycar... OMIM:619737
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Inability to walk, Emot... ORPHA:2822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Failure to thrive in infancy, Limb joint contracture, Simplified gyral... ORPHA:284417
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Hernández-Aguirre Negrete Syndrome
Obesity, Bulbous nose ORPHA:2139
Adams-Oliver Syndrome 2
Optic atrophy, Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Bulbous nose, Depress... OMIM:614219
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Polymicrogyria, Increased CSF lactate, Abnormal CSF pyruvate family amino acid... ORPHA:79243
Malan Overgrowth Syndrome
Tall stature, Optic disc hypoplasia, Episodic ataxia, Depressed nasal bridge, Lateral ventricle d... ORPHA:420179
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Wide nasal br... OMIM:614019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly... OMIM:613154
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Hypospadias, Low hanging columella, Hyperactivity, Anteverted nares, Po... OMIM:617751
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Difficulty walking, Inabi... OMIM:300148
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Lateral ventricle dilatation OMIM:618890
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Anteverted nares, Lateral ventricle dilatation, Bulbous nose, Retinal pigment epithel... OMIM:614105
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Delayed early-childhood social milestone development, Lissencephaly, Ventriculomegaly, Periventri... OMIM:618677
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Short nose, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle... ORPHA:3078
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Pontocerebellar Hypoplasia, Type 12
Joint contracture, Lateral ventricle dilatation OMIM:618266
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Obesity OMIM:615982
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Glutamine Deficiency, Congenital
Short nose, Subependymal cysts, Decreased CSF glutamine concentration, Bradycardia, Anteverted na... OMIM:610015
Bardet-Biedl Syndrome 7
Obesity, Rod-cone dystrophy, Depressed nasal bridge OMIM:615984
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hydrocephalus, Anteverted nares, Flexion contracture, Self-mutilation OMIM:300884
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Obesity OMIM:615993
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Hypospadias, Lateral ventricle dilatation, Patent ductus arteriosus OMIM:618330
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Gombo Syndrome
Microphthalmia OMIM:233270
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Gait disturbance, Retinopathy, Failure to thrive, Lethargy ORPHA:26
Simpson-Golabi-Behmel Syndrome, Type 2
Ventriculomegaly, Obesity, Inguinal hernia, Recurrent upper respiratory tract infections OMIM:300209
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71526
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Agenesis of corpus callo... OMIM:618736
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocit... OMIM:617854
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Congenital foot contractures, Bradycardia, Inc... ORPHA:565624
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio... OMIM:620315
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 22
Large for gestational age, Macular hypopigmentation, Polyphagia, Obesity, Hypogonadism, Rod-cone ... OMIM:617119
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Obesity OMIM:615981
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly ORPHA:1084
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 3
Ventriculomegaly, Polymicrogyria, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis o... OMIM:611603
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Simplified gyral pattern, Lateral ventricle dilatation OMIM:617668
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Ventric... OMIM:607432
Spastic Paraplegia 88, Autosomal Dominant
Attention deficit hyperactivity disorder, Ventriculomegaly, Unsteady gait OMIM:620106
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Inability to walk, Broad nasal tip, Lateral ventricle dilatation, Bruxism, Wide nasal... OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Spastic gait, Tip-toe gait, Dilated third ventricle, Obesity, Lateral vent... OMIM:617296
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Ventriculomegaly, Aggressive behavior OMIM:612691
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Pigmentary retinopathy, Pachygyria OMIM:617613
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Arthrogryposis multiplex cong... OMIM:618291
Pineocytoma
Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration ORPHA:251912
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Pal... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertension, Polyph... ORPHA:71529
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Inability to walk, Emotional lability, Polymicrogyria, Type II lis... ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Simplified gyral pattern OMIM:615763
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Type II lissencephaly, Retinal dysplasia OMIM:614830
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Irritability, Ataxia ORPHA:99966
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Agitation, Maturity-onset diabetes of the young, Hyperinsulinemic hypo... ORPHA:324575
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Depression, Emotional lability, Pigmentary retinopathy, Lo... ORPHA:79264
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Secondary amenorrhea, Unsteady gait, Primary amenorrhea, Ventriculomegaly OMIM:620314
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Alg13-Cdg
Anteverted nares, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Bardet-Biedl Syndrome 19
External genital hypoplasia, Hyposmia, Cone/cone-rod dystrophy, Obesity, Hypogonadism, Patent duc... OMIM:615996
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Emotional lability, Pitui... OMIM:614963
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Anteverted nares, Impulsivity, Unilateral cryptorchidism, Agenesis of corpus... OMIM:618286
Pseudo-Torch Syndrome 2
Bradycardia, Polymicrogyria, Gray matter heterotopia, Cerebral hemorrhage, Lateral ventricle dila... OMIM:617397
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation ORPHA:77299
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Hydrocephalus, Self-mutilation, Polyphagia, Obesity, Wide nasal bridge, Aggressi... OMIM:616521
Alg2-Cdg
Wide nasal bridge, Lateral ventricle dilatation ORPHA:79326
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hyposmia, Hypergonadotropic hypogonadism, Dec... OMIM:613724
Fried Syndrome
Hydrocephalus, Gait disturbance, Abnormal optic nerve morphology, Aggressive behavior ORPHA:85335
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia OMIM:616570
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Oliver-Mcfarlane Syndrome
Retinal degeneration, Small for gestational age, Pigmentary retinopathy OMIM:275400
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ventriculomegaly, Ataxia, Simplified gyral pattern OMIM:613402
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Inability to walk, Hydrocephalus, Delayed early-childhood social milestone develop... OMIM:618174
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Ven... ORPHA:1083
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyp... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la... ORPHA:179494
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Hydrocephalus, Type II lissencephaly, Gait disturbance, Camptod... ORPHA:272
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor... ORPHA:250972
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Anteverted nares, Dandy-Walker malformation, Gait ataxia, Failure to thrive, L... OMIM:618606
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Short nose, Irritability, Retinal detachment, Hydrocephalus, Failure to thrive, Co... OMIM:619833
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Athetosis, Cardiomyopathy, Dilated fourth ventricle, Ataxia, Dysphagia, Later... ORPHA:572798
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Hydrocephalus, Type II lissencephaly, Agyria, Dandy-Walker malformation, Simp... OMIM:613153
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Macular degeneration, Obesity, Ataxia, Dysphagia, Agenesis of corpus ... OMIM:604360
Craniotelencephalic Dysplasia
Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Lissencephaly, ... ORPHA:1528
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Obesity, Broad nasal tip, Failure to thrive in infancy OMIM:613670
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Inability to walk, Failure to thrive, Ataxia, Ventriculomegaly OMIM:619701
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Scissor gait, Lateral ventricle dilatation ORPHA:363654
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Gait disturbance, Agenesis of corpus callosum ORPHA:2466
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Microcephaly 17, Primary, Autosomal Recessive
Delayed early-childhood social milestone development, Microlissencephaly, Failure to thrive, Simp... OMIM:617090
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Agyria, Flexion contracture, Pachygyria, Lateral ventricle dilatation, D... ORPHA:2148
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary ame... OMIM:614962
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Bulbous nose, Truncal obesity ORPHA:261483
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation ORPHA:208447
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matt... ORPHA:352682
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Impuls... OMIM:618914
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Impulsivity, Hypogonadism, Hypothalamic luteinizing... ORPHA:398069
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation of retinal bl... OMIM:613464
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension, Agenesis of corpus callosum OMIM:166990
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Delayed early-childhood social milestone development, Simplified gyral pattern, Ag... OMIM:619302
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Bowen-Conradi Syndrome
Prominent nose, Camptodactyly of finger, Ventriculomegaly, Cryptorchidism ORPHA:1270
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Simplified gyral pattern, Agenesis of corpus callosum, Lateral ventricle... OMIM:619244
Temple Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Polyphagia, Precocious pube... ORPHA:254516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Retinal dysplasia, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Compulsive behaviors ORPHA:500166
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Abnormal na... ORPHA:54595
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Azoospermia, Depression, Abnormal dental enamel morphology, Hypopl... ORPHA:10
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Retinal dystrophy, Broad-based gait, Waddling gait, Obesity, Ataxia OMIM:616756
Bardet-Biedl Syndrome 17
Polydipsia, Bone spicule pigmentation of the retina, Hyposmia, Anosmia, Cone/cone-rod dystrophy, ... OMIM:615994
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Agenesis of corpus callosum ORPHA:171703
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Aicardi Syndrome
Optic atrophy, Lipoma, Retinal detachment, Anteverted nares, Polymicrogyria, Dandy-Walker malform... OMIM:304050
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Delayed early-childhood social milestone development, Simplified gyral pattern, Ag... OMIM:619301
Diencephalic Syndrome
Optic atrophy, Long penis, Hydrocephalus, Cachexia, Decreased body weight, Abnormality of the hyp... ORPHA:1672
Peho-Like Syndrome
Optic atrophy, Short nose, Polymicrogyria, Pachygyria, Lissencephaly, Ventriculomegaly OMIM:617507
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Meckel Syndrome, Type 8
Pericardial effusion, Microphthalmia, Anophthalmia OMIM:613885
Bardet-Biedl Syndrome 9
Polydipsia, Bone spicule pigmentation of the retina, Truncal obesity, Polyphagia, Obesity, Attenu... OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Increased body weight, Tachycardia, Hyperinsulinemic hypoglycemia, P... ORPHA:276608
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Increased blood pressure, Chorioretinal atrophy, Hypertension, Porta... OMIM:619487
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Failure to thrive, Attention deficit hyperactivity di... ORPHA:250994
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure ... OMIM:616034
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Small for gestational age, Pigmentary retinopathy ORPHA:3363
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Wide nose, Gait ataxia, Depressed nasal br... ORPHA:488635
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98793
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Gait disturbance, Failure to thri... ORPHA:488627
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Meningioma
Impotence, Decreased circulating cortisol level, Ataxia, Abnormal hypothalamus physiology, Focal ... ORPHA:2495
Nanophthalmos
Microphthalmia ORPHA:35612
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis of corpus callosum OMIM:619501
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98754
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Optic nerve hypoplasia, A... ORPHA:3157
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Emotional lability, Polymicrogyria, Hyperactivity, Cryptorchidism, ... OMIM:300354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177904
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Polymicrogyria, Ventriculomegaly, Pachygyria, Lissencephaly OMIM:618730
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177901
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Depression, Decreased libido, Poly... ORPHA:33543
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microcephaly 5, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Ventriculomegaly, Simplified gyral pattern, Agenesis of... OMIM:608716
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Inability to walk, Dandy-Walker m... ORPHA:356961
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Hypertrophic cardiomyopathy, Obesity, Ataxia, Aggressive behavior OMIM:620270
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Aortic regurgitation, Cardiomyopathy, Elevated CSF D-2-hydroxyglutaric acid c... OMIM:600721
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Abnormal autonomic nervous system physiology, Polyphagia, Obesity,... ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Shuffling gait, Agenesis of corpus callosum OMIM:303350
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Agitation, Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system phy... OMIM:613870
47,Xyy Syndrome
Congenital stationary night blindness, Male infertility, Tall stature, Increased serum testostero... ORPHA:8
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Wide nose ORPHA:276630
Nanophthalmos 4
Microphthalmia OMIM:615972
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterot... OMIM:615191
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Simplified gyral pattern, Agenesis of corpus callosum, Gait ataxia OMIM:616540
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Ataxia, Lethargy ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge, Pachygyria OMIM:614870
Anencephaly 2
Anophthalmia OMIM:619452
Hsd10 Disease
Optic atrophy, Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Ventriculomegaly, C... ORPHA:391417
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Large for gestational age, Inguinal hernia, Dilated third ventricle, ... ORPHA:544488
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Facial palsy, Lateral ventricle dilatation OMIM:256850
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Anosmia, Increased CSF protein concentration, Ataxia, A... OMIM:266500
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Luscan-Lumish Syndrome
Long nose, Overgrowth, Polyphagia, Excessive shyness, Obesity, Ventriculomegaly, Polycystic ovari... OMIM:616831
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Inguinal hernia, Lateral ventricle dilatation ORPHA:85290
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ventriculomegaly, Ataxia, Dysphagia OMIM:613925
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic gait, Ventriculomegaly, Ataxia, Inability to walk OMIM:616486
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Retinal dystrophy, Hydrocephalus, Cardiomyopathy, Facial palsy, Flexion contra... OMIM:613155
Developmental And Epileptic Encephalopathy 97
Ventriculomegaly, Inability to walk, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Lateral ventricle dilatation, Self-injurious behavior, Depressed nasal bridge, Agg... OMIM:620075
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Infertility, Oligozoospermia, Hypertension, Obesity, Type ... OMIM:615703
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Joubert Syndrome 10
Decreased body weight, Polyphagia, Frequent temper tantrums, Obesity, Rod-cone dystrophy, Wide na... OMIM:300804
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Inability to walk by childhood/adolescence, Steppage gait, Hydrocephalus, Restless... ORPHA:99947
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Undetectable visual evoked potentials, Dandy-Walker malformation, Thic... ORPHA:163961
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia, Wide nasal bridge OMIM:209970
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Agitation, Inability to walk, Decreased body weight, Stereotypical hand ... OMIM:619229
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Short nose, Inability to wal... OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Ventriculome... OMIM:617862
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Hypospadias, Retinal dystrophy, Meningocele, Dandy-Walker malformation, ... ORPHA:397715
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Small for gestational age, Hydranencephaly, Retinal detachment, Ante... OMIM:620371
Prader-Willi Syndrome Due To Translocation
Head-banging, Lateral ventricle dilatation, Decreased response to growth hormone stimulation test... ORPHA:177907
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Hydrocep... ORPHA:137675
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Narp Syndrome
Irritability, Retinal pigment epithelial mottling, Ataxia, Progressive gait ataxia, Ventriculomeg... ORPHA:644
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Distal Deletion 10Q
Short nose, Spina bifida occulta, Facial diplegia, Attention deficit hyperactivity disorder, Fail... ORPHA:96148
Craniosynostosis 6
Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d... OMIM:616602
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity, Anosmia OMIM:619755
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of connective tissue, Facial palsy, Cryptorchidism, Loss of ambulation, Ventriculomeg... ORPHA:370968
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly,... OMIM:615219
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Abnormal temper tantrums, Low frustration tolerance, Contracture of the proximal inte... ORPHA:457279
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Temple Syndrome
Maturity-onset diabetes of the young, Wide nose, Hydrocephalus, Anteverted nares, Precocious pube... OMIM:616222
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Inability to walk, Athetosis, Hypertrophic cardiomyopathy, Gait dist... OMIM:618241
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hyp... ORPHA:2183
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Chorioretinal atrophy, Truncal ataxia, Dilated fourth v... OMIM:220220
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Hydrocephalus, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Wide nose, Low insertion of columella, Broad nasal tip, Lateral ventricle dilatation, ... OMIM:619995
Chromosome 3Q29 Duplication Syndrome
Short nose, Obesity, Bulbous nose, Wide nasal bridge OMIM:611936
Summitt Syndrome
Depressed nasal ridge, Tall stature, Obesity, Wide nose ORPHA:3210
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Waddling gait, Excessive shyness, Overweight, Flexion contracture, Ventriculom... OMIM:614066
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Bulbous nose OMIM:300238
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Ataxia, Arrhythmia, Ventricular preexcitation, Retinal vas... ORPHA:104
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Retinal detachment, Polymicrogyria, Type II lissencephaly... ORPHA:370959
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Abnormality of retinal pigmentation ORPHA:2515
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Perisylvia... ORPHA:739
Trisomy 5P
Ventriculomegaly, Obesity, Hypoplasia of penis ORPHA:1742
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Depression, Adrenal medullary hypoplasia, Hydrocephalus OMIM:248000
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Inappropriate laughter, Ataxia, Motor stereotypy, Ventriculomegaly, Bruxism, Aggressive be... OMIM:619150
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tantrums, Failure to thrive... OMIM:619575
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Steppage gait, Anosmia, Abnormality of visual evoked potentials, Decreased motor n... OMIM:601152
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Failure to thrive, Ventr... OMIM:300952
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Dysphagia, Lateral ventricle dilatation, Cryptorchidism, Micropenis, Small for gestational age OMIM:619847
Idiopathic Intracranial Hypertension
Abnormal emotion, Depression, Focal sensory seizure with olfactory features, Papilledema, Obesity... ORPHA:238624
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Trimethylaminuria
Depression, Hypertension, Tachycardia OMIM:602079
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia, Cryptorchidism, Decreased testicular size, Absence of pubertal development, Ob... OMIM:610628
Weaver Syndrome
Patent ductus arteriosus, Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Hydrocele testi... OMIM:277590
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Gray matter heterotopia, Abnormal neuron morphology, Pachygyria, V... ORPHA:99802
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly, Cryptorchidism, Inguinal hernia ORPHA:1568
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Spina bifida, Obesity, Overfriendliness, Attention deficit hyperactivit... OMIM:620439
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Schaaf-Yang Syndrome
Inability to walk, Polyphagia, Camptodactyly, Cryptorchidism, Impulsivity, Obesity, Skin-picking,... OMIM:615547
Bardet-Biedl Syndrome 8
Obesity, Rod-cone dystrophy OMIM:615985
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy ORPHA:858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Hernia of the abdominal wall, Obesity, Cry... ORPHA:3055
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight OMIM:614651
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Overgrowth, Ventriculomegaly, Hernia, Depressed nasal bridge OMIM:602501
Frontotemporal Dementia
Irritability, Polyphagia, Inappropriate laughter, Disinhibition, Amyotrophic lateral sclerosis OMIM:600274
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyposmia, Anosmia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Bardet-Biedl Syndrome 3
Obesity, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Hyposmia, Decreased circulating luteinizing hormone level, Decreased circulating fol... OMIM:308700
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Hypospadias, Inguinal hernia, Inability to walk, Anteverted nares, Prominent ... ORPHA:464738
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Choanal atresia, Abnormality of the sense of smell, Hypogonadotropic hypogonadis... ORPHA:1135
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Abnormal optic disc morphology, Aortic valve sten... ORPHA:96121
Laurence-Moon Syndrome
Chorioretinal atrophy, Obesity, Pigmentary retinopathy OMIM:245800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Lateral ventricle dilatation, Repetitive compulsive behavio... OMIM:607485
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Retinal dysplasia, Retinal dystrophy, Retinal detachme... ORPHA:899
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Intellectual Developmental Disorder, X-Linked 12
Depression, Gait disturbance, Microphallus, Abnormality of neuronal migration, Ventriculomegaly, ... OMIM:300957
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Hydrocephalus, Anteverted nares, Tricuspi... OMIM:612863
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy, Wide nasal bridge, Neonatal death OMIM:610127
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Patent ductus arteriosus, Hypospadias, Hydrocephalus, Anteverted nares, Obesity, Umbi... ORPHA:171839
Lissencephaly 8
Optic atrophy, Occipital encephalocele, Delayed early-childhood social milestone development, Pol... OMIM:617255
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Aganglionic megacolon, Polymicrogyria, Optic nerve hypoplasia, Agyria... ORPHA:171680
Atkin-Flaitz Syndrome
Anteverted nares, Obesity, Broad nasal tip ORPHA:1193
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Abnormal mitochondrial morphology OMIM:300438
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Dysphagia, Lateral ventricle dilatation, Heart murmur, Ventriculomegaly, Bruxism, ... OMIM:615873
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Ataxia ORPHA:411515
Cog5-Cdg
Truncal ataxia, Camptodactyly of finger, Lateral ventricle dilatation, Prominent nose, Cryptorchi... ORPHA:263487
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Small for gestational age, Lateral ventricle dilatation OMIM:619278
Clark-Baraitser Syndrome
Short nose, Low hanging columella, Anteverted nares, Obesity, Depressed nasal bridge OMIM:617752
Retinitis Pigmentosa 80