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
edema Bbs1em1(IMPC)Mbp HOM 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
edema Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Bbs1em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Bbs1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Bbs1em1(IMPC)Mbp HET E15.5 0.00
small heart Bbs1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Bbs1em1(IMPC)Mbp HET 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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Gross Morphology Embryo E14.5-E15.5

Images

21 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
Anophthalmia, Microphthalmia ORPHA:85275
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615990
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Lipedema
Edema OMIM:614103
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Bardet-Biedl Syndrome 11
Retinopathy, Obesity OMIM:615988
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Optic neuritis, Arthrogryposis multiple... ORPHA:135
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Retinal Dystrophy And Obesity
Peripapillary atrophy, Obesity, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Bardet-Biedl Syndrome 18
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Gray matter hetero... OMIM:600348
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Bardet-Biedl Syndrome 10
Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Micropenis, Lateral ventricle dilatation, Anteverted nares, Bilateral cryptorchidism OMIM:300982
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Martsolf Syndrome 2
Broad nasal tip, Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation, Decreased ... OMIM:619420
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma, Ataxia, Ventriculomegaly ORPHA:2732
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:615524
Joubert Syndrome 3
Frontal polymicrogyria, Ataxia, Pigmentary retinopathy, Lateral ventricle dilatation, Anteverted ... OMIM:608629
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Simplified gyral pattern, Abnormal neuron morphology, Ventriculomegaly ORPHA:329228
Autism, Susceptibility To, X-Linked 6
Underdeveloped nasal alae, Obesity OMIM:300872
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Broad-based gait, Simplified gyral pattern, Optic atrophy, Aggressi... OMIM:619470
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, Ataxia, Lateral ventricle dilatation, Dysphagia, Congenital contracture, Degeneratio... OMIM:607596
Holoprosencephaly 5
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... OMIM:609637
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Gray matt... ORPHA:300573
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Retinal pigment epithelial mottling, Restlessness, Partial agenesis... OMIM:619517
Congenital Hydrocephalus
Colpocephaly, Abnormal cortical gyration, Hydrocephalus, Ventriculomegaly, Bulbous nose, Lissence... ORPHA:2185
Chudley-Mccullough Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplas... OMIM:604213
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Polyrrhinia
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal nasal bone morphology, ... ORPHA:141091
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Disinhibition, Abnormal upper motor neuron morphology, Lateral ventricle dilata... OMIM:221770
Autosomal Recessive Spastic Paraplegia Type 11
Emotional lability, Hypothalamic atrophy, Overweight, Inability to walk, Gait disturbance, Ataxia... ORPHA:2822
Malan Overgrowth Syndrome
Optic disc hypoplasia, Anxiety, Optic disc pallor, Lateral ventricle dilatation, Ventriculomegaly... ORPHA:420179
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Macular dystrophy, Obesity OMIM:615983
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Inappropriate laughter, Ventriculomegaly, Ga... OMIM:619323
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Primary amenorrhea, Optic disc pallor, Hypergonadotropic hyp... OMIM:619737
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Ventriculomegaly, Abnormality of... OMIM:618709
Cone-Rod Dystrophy 11
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Microcephaly 19, Primary, Autosomal Recessive
Failure to thrive in infancy, Simplified gyral pattern, Ventriculomegaly, Extra-axial cerebrospin... OMIM:617800
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Huntington Disease
Abnormal libido, Polyphagia, Decreased body mass index, Inability to walk, Gait disturbance, Agit... ORPHA:399
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Polymicrogyria, Inability to walk, Partial agenesis of the corpus call... ORPHA:79243
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Wide nasal bridge, Lissencephaly, Agenesis of corpus call... OMIM:614019
Adams-Oliver Syndrome 2
Depressed nasal bridge, Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Bulbous nose... OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Ventr... OMIM:613154
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Simplified gyral pattern, Knee flexion contracture, Lateral ventric... ORPHA:284417
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Anteverted nares, ... OMIM:614105
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Overweight, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluoresce... OMIM:617406
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Short nose, Lateral ventricle dilatation, Anteverted nares, Ventriculomegaly, ... OMIM:613443
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Ataxia, Lateral ventricle dilatation OMIM:615889
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity ORPHA:2139
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Mehmo Syndrome
Depressed nasal tip, Broad nasal tip, Small for gestational age, Delayed puberty, Micropenis, Ina... OMIM:300148
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Short nose, Lateral ventricle dilatation, Dilated fourth ventricle, Re... ORPHA:3078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615938
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Delayed social development, Periventricular ribbonlike heterotopia, Ventriculomegaly OMIM:618677
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Lateral ventricle dilatation ORPHA:306669
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Prominent nasal bridge, Hyperactivity, Umbilical hernia, Lateral ventricle dilata... OMIM:617751
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Joint contracture OMIM:618266
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Congenital foot contractures, Loss of ambulation, Decreased nerve conduction velo... ORPHA:565624
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Glutamine Deficiency, Congenital
Camptodactyly, Decreased CSF glutamine concentration, Short nose, Lateral ventricle dilatation, A... OMIM:610015
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hydrocephalus OMIM:615937
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Intellectual Developmental Disorder, Autosomal Dominant 56
Impaired social interactions, Inability to walk, Ataxia, Attention deficit hyperactivity disorder... OMIM:617854
Bardet-Biedl Syndrome 16
Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Global Developmental Delay With Or Without Impaired Intellectual Development
Bulbous nose, Patent ductus arteriosus, Lateral ventricle dilatation, Hypospadias OMIM:618330
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Rod-cone dystrophy, Obesity OMIM:615984
Bardet-Biedl Syndrome 4
Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Hydrocephalus, Failure to thrive, Retinopathy, Lethargy ORPHA:26
Atypical Teratoid Rhabdoid Tumor
Irritability, Apathy, Ataxia, Hydrocephalus ORPHA:99966
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Developmental And Epileptic Encephalopathy 36
Self-mutilation, Hydrocephalus, Anteverted nares, Flexion contracture, Optic atrophy OMIM:300884
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Gombo Syndrome
Microphthalmia OMIM:233270
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Optic nerve hypoplasia, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Underdeveloped nasal alae, Bone spicule pigmentation of the retina, Attenuation of retinal blood ... OMIM:616108
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71526
Bardet-Biedl Syndrome 19
External genital hypoplasia, Hypogonadism, Hyposmia, Patent ductus arteriosus, Rod-cone dystrophy... OMIM:615996
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Attention deficit hyperactivity disorder, Anteverted nares, Ventriculomegaly, Aggressive... OMIM:618286
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections, Inguinal hernia, Ventriculomegaly OMIM:300209
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Simplified gyral pattern, Lateral ventricle dilatation OMIM:617668
Bardet-Biedl Syndrome 22
Polyphagia, Rod-cone dystrophy, Hypogonadism, Macular hypopigmentation, Large for gestational age... OMIM:617119
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Lissencephaly 3
Polymicrogyria, Ataxia, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Agyria, Lissenceph... OMIM:611603
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spastic Paraplegia 88, Autosomal Dominant
Attention deficit hyperactivity disorder, Unsteady gait, Ventriculomegaly OMIM:620106
Morm Syndrome
Retinal dystrophy, Truncal obesity, Retinal atrophy ORPHA:75858
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria ORPHA:1084
Lissencephaly 1
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agyria, Lissencephaly, Subcortical band he... OMIM:607432
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Syncope, Palpitations, Lethar... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Excessive insulin response to glucagon test, Agitation, Syncope, P... ORPHA:276580
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Pachygyria, Ventriculomegaly OMIM:617613
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Retinal dysplasia, Hydrocephalus OMIM:614830
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Sim1-Related Prader-Willi-Like Syndrome
Primary amenorrhea, Central hypothyroidism, Chorioretinal hypopigmentation, Small pituitary gland... ORPHA:398079
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Simplified gyral pattern, Ventriculomegaly OMIM:615763
Pineocytoma
Increased CSF protein concentration, Episodic ataxia, Difficulty walking, Hydrocephalus ORPHA:251912
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Small for gestational age, Excessive insulin response to glucagon ... ORPHA:324575
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Subdural hemorrhage, Lateral ventricle dilatation, Ventriculo... OMIM:618291
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Tip-toe gait, Lateral ventricle dilatation, Optic nerve ... OMIM:617296
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Wide nasal base, Hydrocephalus, Wide nasal bridge, Aggressive behavi... OMIM:616521
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Aggressive behavior, Ventriculomegaly OMIM:612691
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Bardet-Biedl Syndrome 2
Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight, Anteverted nares ORPHA:324422
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hypertension, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, ... ORPHA:71529
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Type II lissencephaly, Polymicrogyria, Impaired social interactions, Inabilit... ORPHA:300570
Retinitis Pigmentosa
Hypogonadism, Abnormal retinal vascular morphology, Hyperinsulinemia, Abnormality of retinal pigm... ORPHA:791
Leptin Receptor Deficiency
Polyphagia, Delayed puberty, Abnormal eating behavior, Emotional lability, Abnormal hypothalamus ... OMIM:614963
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Difficulty walking, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly, Dysph... ORPHA:572798
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Inability to walk, Short nose, Lateral ventricle dilatation, Wide nasal bridge OMIM:615716
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Syncope, Palpitations, Lethar... ORPHA:276556
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Alg2-Cdg
Wide nasal bridge, Lateral ventricle dilatation ORPHA:79326
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Camptodactyly of finger, Gait disturbance, Hydrocephalus, Ventriculomegaly... ORPHA:272
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Ataxia, Hydrocephalus, Delayed social development, Pachygyria, Optic atrophy OMIM:618174
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral hemorrhage, Lateral ventricle dilatation, Gray matter heterotopia, Ventr... OMIM:617397
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Hyperactivity, Ataxia, Ventriculomegaly OMIM:613402
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduction velocity, Hyper... OMIM:613724
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agitation, Lateral ventricle dilatation, Irritability, Dysphagia, Pachygyria, Agyria, Flexion con... ORPHA:2148
Narcolepsy Type 1
Obesity ORPHA:2073
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia OMIM:616570
Fried Syndrome
Aggressive behavior, Abnormal optic nerve morphology, Gait disturbance, Hydrocephalus ORPHA:85335
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Emotional lability, Hypoplasia of the ovary, Decreased testicular size, Decreased ser... ORPHA:179494
Chromosome Xq21 Deletion Syndrome
Obesity, Choroideremia, Chorioretinal atrophy, Chorioretinal degeneration OMIM:303110
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Ventriculomegaly, Subcortical heterotopia, Pachygyria, ... ORPHA:1083
Juvenile Neuronal Ceroid Lipofuscinosis
Emotional lability, Pigmentary retinopathy, Loss of ambulation, Optic disc pallor, Anxiety, Focal... ORPHA:79264
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
11P15.4 Microduplication Syndrome
Obesity, Anteverted nares ORPHA:300305
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of cor... ORPHA:250972
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Lateral ventricle dilatation, Failure to thrive, Anteverted nares, Gait ataxia... OMIM:618606
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Hydrocephalus, Simplified gyral pattern, Retinal detachment, Dandy-Walker ... OMIM:613153
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Macular degeneration, Tip-toe gait, Retinal degeneration, Dysphagia, Spastic gait, Agenes... OMIM:604360
Leptin Deficiency Or Dysfunction
Polyphagia, Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Decreased se... OMIM:614962
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Small for gestational age, Retinal degeneration OMIM:275400
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Masa Syndrome
Camptodactyly of finger, Agenesis of corpus callosum, Gait disturbance, Ventriculomegaly ORPHA:2466
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Depressed nasal bridge, Distal arthrogryposis, Hydrocephalus, Ataxia, Short nose, R... OMIM:619833
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Failure to thrive, Ventriculomegaly, Bulbous nose, ... OMIM:617090
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Oral-pharyngeal dysphagia, Lateral ventricle dilatation ORPHA:208447
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria,... ORPHA:352682
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... OMIM:608161
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Pulmonic stenosis, Joint contracture of the 5th finger, Umbilical hernia, Latera... OMIM:618914
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Lateral ventricle dilatation, Scissor gait ORPHA:363654
Yoon-Bellen Neurodevelopmental Syndrome
Inability to walk, Ataxia, Failure to thrive, Ventriculomegaly, Optic atrophy OMIM:619701
Bowen-Conradi Syndrome
Prominent nose, Camptodactyly of finger, Cryptorchidism, Ventriculomegaly ORPHA:1270
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Retinal dysplasia ORPHA:324416
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Magel2-Related Prader-Willi-Like Syndrome
Primary amenorrhea, Central hypothyroidism, Chorioretinal hypopigmentation, Small pituitary gland... ORPHA:398069
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Temple Syndrome
Polyphagia, Small for gestational age, Cryptorchidism, Precocious puberty, Hydrocephalus, Decreas... ORPHA:254516
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Delayed social ... OMIM:619302
Bardet-Biedl Syndrome 17
Macular atrophy, Micropenis, Hypogonadism, Cone/cone-rod dystrophy, Hyposmia, Retinal degeneratio... OMIM:615994
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Difficulty walking, Failure to thrive in infancy, Lateral ventricle dilatation,... ORPHA:488627
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Short nose, Ventriculomegaly, Undetectable visual evoked potentials, Dysphagia, Th... ORPHA:163961
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:613464
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus, Retinal coloboma, Rod-cone dystrophy, Obesity OMIM:601794
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Inability to walk, Ataxia, Waddling gait, Broad-based gait, Obesity OMIM:616756
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Broad nasal tip, Obesity OMIM:613670
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Aicardi Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Spina bifida, Hiatus hernia, Retinal det... OMIM:304050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Pancreatic islet-cell hyperplasia, Lethargy, Hyperinsulinemia, Hyperinsulinemic hypogl... ORPHA:276608
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypoplasia of the ovary, Decreased testicular size, Decreased serum testosterone conc... ORPHA:66628
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Simplified gyral pattern, Lateral ventricle dilatation, Aggressive behavior, Prom... OMIM:619244
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Craniopharyngioma
Polyphagia, Hypopituitarism, Delayed puberty, Hypogonadism, Hydrocephalus, Abnormal hypothalamus ... ORPHA:54595
Diencephalic Syndrome
Decreased body weight, Hydrocephalus, Cachexia, Long penis, Optic atrophy, Abnormality of the hyp... ORPHA:1672
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Failure to thrive, Arthr... ORPHA:250994
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Wide nose, Gait ataxia, Gait imbalance, Depressed nasal br... ORPHA:488635
Peho-Like Syndrome
Polymicrogyria, Short nose, Ventriculomegaly, Pachygyria, Lissencephaly, Optic atrophy OMIM:617507
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Retinal degeneration, Irregular menstruation, Polydipsia, Bone spicu... OMIM:615986
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98754
Xq27.3Q28 Duplication Syndrome
Bulbous nose, Truncal obesity, Failure to thrive ORPHA:261483
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Anxiety, Lateral ventricle dilatation, Self-injurious behavior, Depressed nasal br... OMIM:620075
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Aicardi-Goutieres Syndrome 9
Self-mutilation, Micropenis, Hypertension, Lateral ventricle dilatation, Failure to thrive, Irrit... OMIM:619487
Nanophthalmos
Microphthalmia ORPHA:35612
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Isosexual precocious puberty, Overgrowth, Premature thelarche, Hypothalamic hamart... ORPHA:759
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Ventriculomegaly And Arthrogryposis
Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, ... OMIM:608716
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Impaired social interactions, Micropenis, Hyp... ORPHA:8
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Lissencephaly, Opti... ORPHA:1528
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Emotional lability, Delayed puberty, Decreased testicular size, Cryptorchidism, Polymicrogyria, M... OMIM:300354
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98793
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Diabetes insip... ORPHA:3157
Meningioma
Papilledema, Neoplasm of the posterior pituitary, Enlarged pituitary gland, Decreased serum testo... ORPHA:2495
48,Xxyy Syndrome
Decreased testicular size, Cryptorchidism, Inguinal hernia, Ataxia, Anxiety, Attention deficit hy... ORPHA:10
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Shuffling gait, Hydrocephalus OMIM:303350
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Summitt Syndrome
Obesity OMIM:272350
Prader-Willi-Like Syndrome
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:398073
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177904
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Micropenis, Agitation, Short nose, Hypertension, Abnormal autonomic nervo... OMIM:613870
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Lissencephaly, Polymicrogyria, Pachygyria, Ventriculomegaly OMIM:618730
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177901
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Abnormali... OMIM:146110
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Lissencephaly 5
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Optic atr... OMIM:615191
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Ventriculomegaly, Dysphagia, Optic atrophy, C... ORPHA:391417
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Inguinal hernia, Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Dysplast... ORPHA:544488
Luscan-Lumish Syndrome
Polyphagia, Long nose, Shyness, Polycystic ovaries, Anxiety, Overgrowth, Ventriculomegaly, Irregu... OMIM:616831
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Amyotrophic lateral sclerosis, Irritab... OMIM:600274
Nanophthalmos 4
Microphthalmia OMIM:615972
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Steppage gait, Lateral ventricle dilatation OMIM:256850
Obesity Due To Sim1 Deficiency
Polyphagia, Hypotension, Attention deficit hyperactivity disorder, Abnormal autonomic nervous sys... ORPHA:369873
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Agenesis of corpus callosum, Ventriculomegaly OMIM:616540
Distal Deletion 10Q
Prominent nasal bridge, Facial diplegia, Unsteady gait, Ataxia, Short nose, Attention deficit hyp... ORPHA:96148
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation, Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Slc35A2-Cdg
Camptodactyly of finger, Limb joint contracture, Inability to walk, Failure to thrive in infancy,... ORPHA:356961
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Wide nose ORPHA:276630
Refsum Disease, Classic
Ataxia, Increased CSF protein concentration, Arrhythmia, Cardiomyopathy, Retinal degeneration, Co... OMIM:266500
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
X-Linked Intellectual Disability, Wilson Type
Inguinal hernia, Lateral ventricle dilatation, Hydrocele testis ORPHA:85290
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Wide nasal bridge, Hydrocephalus OMIM:209970
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic gait, Inability to walk, Ataxia, Ventriculomegaly OMIM:616486
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Difficulty walking, Tip-toe gait, Gray matter heterotopia, Achilles tendon contr... ORPHA:370980
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Dysphagia, Ataxia, Ventriculomegaly OMIM:613925
Morbid Obesity And Spermatogenic Failure
Hypertension, Infertility, Azoospermia, Type II diabetes mellitus, Congestive heart failure, Myoc... OMIM:615703
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum ORPHA:500166
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Optic disc pallor, Decreased motor nerve conduction velocity, Abnormality of visua... OMIM:601152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Cardiomyopathy, Facial palsy, Abnormal left ventricular functio... OMIM:613155
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Hyperinsulinemia, Aggressive behavior, No social intera... ORPHA:329249
Histiocytoid Cardiomyopathy
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Hydrocephalus, Polycystic ovaries, Atria... ORPHA:137675
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle d... OMIM:616602
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Aortic valve stenosis, Wide nasal bridge, Patent ductus ... OMIM:220220
Krabbe Disease
Abnormal flash visual evoked potentials, Hydrocephalus, Increased CSF protein concentration, Decr... OMIM:245200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Colpocephaly, Meningocele, Occipital encephalocele, Lateral ventr... ORPHA:397715
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis, Pigmentary retinopathy, Abnormality of connective tissue, Loss of amb... ORPHA:370968
Bainbridge-Ropers Syndrome
Broad nasal tip, Cryptorchidism, Inability to walk, Prominent nasal bridge, Underdeveloped nasal ... OMIM:615485
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Delayed puberty, Decreased testicular size, Testicular... ORPHA:52901
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Broad nasal tip, Low insertion of columella, Lateral ventricle dilatation, Wide nose, ... OMIM:619995
Temple Syndrome
Small for gestational age, Cryptorchidism, Overweight, Decreased testicular size, Precocious pube... OMIM:616222
Prader-Willi Syndrome Due To Translocation
Head-banging, Broad nasal tip, Underdeveloped nasolabial fold, Impaired social interactions, Ante... ORPHA:177907
Congenital Hypothyroidism
Goiter, Thyroid dysgenesis, Abnormality of the thyroid gland, Hypogonadism, Hypotension, Hypothyr... ORPHA:442
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Agitation, Optic disc pallor, Ventriculomegaly, Abnormality of visual evoked pote... ORPHA:314389
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
Narp Syndrome
Ataxia, Retinal pigment epithelial mottling, Optic disc pallor, Progressive gait ataxia, Irritabi... ORPHA:644
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Loss of ambulation, Irritability, Ventriculomegaly, Athetosi... OMIM:618241
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Simplified gyral pattern, Ventriculomeg... OMIM:615219
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Cryptorchidism, Arthrogryposis multiplex congenita, Micropenis, Hypogo... OMIM:615547
Spastic Paraplegia 47, Autosomal Recessive
Overweight, Inability to walk, Shyness, Ventriculomegaly, Waddling gait, Wide nasal bridge, Bulbo... OMIM:614066
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Ataxia, Retinal telangiectasia, Arrhythmia, Ventricular preexcitatio... ORPHA:104
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Kohlschutter-Tonz Syndrome-Like
Overweight, Inability to walk, Ataxia, Agitation, Amelogenesis imperfecta, Enamel hypoplasia, Lat... OMIM:619229
Insulinoma
Polyphagia, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Palpitations, Abnormality... ORPHA:97279
Biemond Syndrome Type 2
Delayed puberty, Hypogonadism, Hydrocephalus, Hypospadias, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pitui... ORPHA:2183
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Prader-Willi Syndrome
Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal insufficiency, Sma... ORPHA:739
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity ORPHA:411515
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Ventricular tachycardia, Lateral ventricle dilatation... OMIM:300952
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Cardiomyopathy, Retinal detachment, Decreas... ORPHA:370959
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Cryptorchidism, Micropenis, Lateral ventricle dilatation, Dysphagia OMIM:619847
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Trisomy 5P
Obesity, Hypoplasia of penis, Ventriculomegaly ORPHA:1742
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Ventriculomegaly, Pachygyria... ORPHA:99802
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Diabetes mellitus, Abs... OMIM:610628
Microcephaly-Cardiomyopathy Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Abnormality of retinal pigmentation ORPHA:2515
Summitt Syndrome
Obesity, Tall stature, Depressed nasal ridge, Wide nose ORPHA:3210
Scheie Syndrome
Depressed nasal bridge, Retinal degeneration, Wide nose OMIM:607016
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Frontal encephalocele, Hydrocephalus, Anxiety, Attention deficit hyperactivity di... ORPHA:261102
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge, Obesity OMIM:611936
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Hydrocephalus, Overgrowth, Ventriculomegaly, Hernia, Depressed nasal bridge OMIM:602501
Walker-Warburg Syndrome
Abnormal cortical gyration, Chorioretinal dysplasia, Cryptorchidism, Polymicrogyria, Macrogyria, ... ORPHA:899
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Apathy, Agitation, Disinhibition, Lateral ventricle dilatation OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Obesity OMIM:300238
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Hydrocephalus, Steppage gait, Flexion contracture, Op... ORPHA:99947
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Hyperactivity, Irritability, Increased circulating free T3, D... OMIM:275000
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:858
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Lateral ventricle dilatation, Tricuspid regurgitation, Anteverted nares, Persisten... OMIM:612863
Weaver Syndrome
Polyphagia, Camptodactyly, Cryptorchidism, Inguinal hernia, Umbilical hernia, Overgrowth, Lateral... OMIM:277590
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Emotional blunting, Dimi... OMIM:172700
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Hematochezia, Overweight, Hydrocephalus, Attention deficit hyperactivity disorder, ... OMIM:619575
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity, Hyposmia, Hyperinsulinemia, Anosmia, Increased serum leptin OMIM:617885
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell, Hypogonadotr... ORPHA:377
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia, Cryptorchidism, Ventriculomegaly ORPHA:1568
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
7Q11.23 Microduplication Syndrome
Broad nasal tip, Inguinal hernia, Abnormal columella morphology, Ventriculomegaly, Aplasia/hypopl... ORPHA:96121
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Obesity OMIM:615985
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:613660
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity OMIM:245800
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Overweight, Obesity OMIM:614651
X-Linked Acrogigantism
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, ... ORPHA:300373
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Agitation, Ventriculomegaly, Self-injurious behavior, Aggressive behavior, Large for gest... OMIM:616116
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy OMIM:604393
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hydrocephalus, Umbilical hernia, Short nose, Anteverted nares, Short ... ORPHA:171839
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Lissencephaly 8
Type II lissencephaly, Polymicrogyria, Delayed social development, Occipital encephalocele, Ventr... OMIM:617255
Cog5-Cdg
Camptodactyly of finger, Cryptorchidism, Micropenis, Lateral ventricle dilatation, Wide nasal bri... ORPHA:263487
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Inguinal hernia, Inability to walk, Difficulty walking, Lateral ... ORPHA:464738
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Eunuchoid habitus, Micropenis, Ata... OMIM:308700
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Developmental And Epileptic Encephalopathy 97
Inability to walk, Ventriculomegaly OMIM:619561
Central Neurocytoma
Abnormal lateral ventricle morphology, Lethargy, Ataxia, Hydrocephalus ORPHA:73256
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Small for gestational age, Lateral ventricle dilatation OMIM:619278
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hernia of the abdominal wall, Hypoplasia of penis, Aplasia/Hypoplasia of the test... ORPHA:3055
Lissencephaly Due To Tuba1A Mutation
Polymicrogyria, Partial agenesis of the corpus callosum, Aganglionic megacolon, Optic nerve hypop... ORPHA:171680
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Unsteady gait, Ataxia, Short no... ORPHA:457279
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Agitation, Female sexual dysfunction, Anxiety, Abnormal aut... ORPHA:2828
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Dysphagia, Gait ataxia, Broad-based gait, Ventriculomegaly OMIM:617862
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Atkin-Flaitz Syndrome
Obesity, Broad nasal tip, Anteverted nares ORPHA:1193
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Polymicrogyria, Hydrocephalus, Arrhythmia, Failure to thrive, Ventriculom... ORPHA:60040
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
Glutaric Acidemia I
Choreoathetosis, Failure to thrive, Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Holoprosencephaly
Diabetes mellitus, Choanal atresia, Hyposmia, Anosmia, Depressed nasal tip, Cryptorchidism, Hydro... ORPHA:2162
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimulation test, Failure to thrive, Ventricu... OMIM:615286
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormality of the sense of smell, A... ORPHA:2189
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense... ORPHA:1135
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Choanal atresia, Hyposmia, Anosm... OMIM:147950
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Tatton-Brown-Rahman Syndrome