Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
DS cell adhesion molecule
Synonyms:
4932410A21Rik,  Down syndrome cell adhesion molecule

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Dscam 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Retinal dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Pulmonary Disease, Chronic Obstructive
Chronic pulmonary obstruction OMIM:606963
Apnea, Central Sleep
Sleep apnea OMIM:107640
Glaucoma And Sleep Apnea
Sleep apnea OMIM:137763
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Ventriculomegaly, Ataxia, Seizure, Cerebral cortical atrophy, Hearing imp... ORPHA:2732
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia... OMIM:608716
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Progressive neurologic deterioration, Ventriculomegaly, Megal... OMIM:613925
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Abnormal cerebral white matter morphology, Seizure, Dysplastic corpus callosum,... ORPHA:500166
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Sei... OMIM:618709
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Macular hypoplasia, Small cerebral cortex, Abnormal cortical gyra... ORPHA:2185
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morpho... ORPHA:329228
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Distal sensory impairment, Optic atrophy, Optic disc pallor OMIM:617087
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Cortic... OMIM:615763
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Growth delay, Cerebellar hypoplas... ORPHA:488635
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomega... OMIM:616486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Generalized hypotonia, Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Hydrocephalus,... OMIM:614830
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Polymicrogyria Due To Tubb2B Mutation
Cortical dysplasia, Hypoplasia of the pons, Cavum septum pellucidum, Pachygyria, Hypoplasia of th... ORPHA:300573
Pineocytoma
Episodic ataxia, Abnormal eyelid morphology, Difficulty walking, Increased CSF protein, Cognitive... ORPHA:251912
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Polymicrogyria, Hemimegalencephaly,... OMIM:615937
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Porencephaly
Seizure, Ventriculomegaly, Porencephalic cyst ORPHA:2940
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:939
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Scoliosis, Dystonia, Ventriculomegaly, Seizure, Cerebral cortical atrophy, Hearing impairment, My... OMIM:617669
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Attention deficit hyperactivity disorder, Sparse eyebrow, Absent eyelashes, Blepharophimosis, Mac... ORPHA:544488
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Seizure... ORPHA:250972
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Seizure, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation ... ORPHA:363654
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Hydrocephalus, Seizure, Posteriorly rotated ears, Low-set ears, Aplasia/H... OMIM:300864
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphol... OMIM:607432
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Seizure, Cerebral cortical atrophy, ... OMIM:617862
Masa Syndrome
Hyperlordosis, Hydrocephalus, Ventriculomegaly, Kyphosis, Short stature, Microcephaly, Agenesis o... OMIM:303350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis ... OMIM:600348
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Seizure, Cerebellar atrophy, Simplif... OMIM:613402
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Retinal dysplasia, Severe muscular hypotonia, Optic atro... OMIM:613154
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:3207
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Dysgenesis of the cerebellar vermis, Abnormality of the optic disc, Dilated thi... ORPHA:397715
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Atypical Teratoid Rhabdoid Tumor
Seizure, Ataxia, Cerebral calcification, Hydrocephalus ORPHA:99966
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Alg13-Cdg
Cognitive impairment, Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Ventriculomegaly, Cerebral atrophy, Gait disturbance, Ataxia, Progressive psychomo... OMIM:230600
Fried Syndrome
Scoliosis, Macrotia, Gait disturbance, Abnormality of the optic nerve, Abnormal cerebellum morpho... ORPHA:85335
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Seizure, Perisylvian polymicrogyria, Enlarged sylvian cistern OMIM:615752
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Macrotia, Ventriculomegaly, Cerebellar hypoplasia, Seizure, Short st... OMIM:617090
Developmental And Epileptic Encephalopathy 49
Macrotia, Ventriculomegaly, Long eyelashes, Seizure, Cerebral calcification, Myoclonus, Microceph... OMIM:617281
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Seizure, Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Aicardi Syndrome
Scoliosis, Postnatal growth retardation, Hemivertebrae, Arnold-Chiari malformation, Dilated third... OMIM:304050
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Seizure, Low-set ears, Microcephaly, Optic atrophy, Hydrocephalus OMIM:300884
Masa Syndrome
Gait disturbance, Ventriculomegaly, Agenesis of corpus callosum, Short stature ORPHA:2466
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Narp Syndrome
Dementia, Progressive gait ataxia, Ventriculomegaly, Retinal pigment epithelial mottling, Myoclon... ORPHA:644
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Autosomal Dominant Non-Syndromic Intellectual Disability
Scoliosis, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Gen... ORPHA:178469
16P13.2 Microdeletion Syndrome
Scoliosis, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Ky... ORPHA:500055
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Memory impairment, Abnormal cerebral white matter morphology, Cerebral atrophy, Ataxia, Cerebella... ORPHA:314404
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, Pachygyria, Enlarged sylvian cistern, Ventriculomegaly, Seizure, Agyria, Infantile... ORPHA:1084
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Central Neurocytoma
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Tinnitu... ORPHA:73256
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure,... ORPHA:101071
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Pachygyria, Increased CSF lactate, Ventriculomegaly, Abnormal cerebellum morphology, Si... OMIM:618397
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Peroxisome Biogenesis Disorder 6A (Zellweger)
Seizure, Pachygyria, Colpocephaly, Low-set ears OMIM:614870
Gabriele-De Vries Syndrome
Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormality of the pinna, ... OMIM:617557
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Bowen-Conradi Syndrome
Ventriculomegaly, Severe intrauterine growth retardation, Seizure, Short stature, Microcephaly, S... ORPHA:1270
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Optic atrophy, Dysplastic corpus callosum OMIM:613162
Cardiofaciocutaneous Syndrome 4
Scoliosis, Hypoplasia of the corpus callosum, Epicanthus, Absent eyebrow, Cerebellar hypoplasia, ... OMIM:615280
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Kyphosis, Cerebral atr... OMIM:616756
Alexander Disease
Seizure, Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Agenesis of corpus callosum, Ptosis, Optic nerve hypoplasia, Spina bifida occulta, Dow... OMIM:618736
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Seizure, Microcephaly, Retinopathy, Hydrocephalus ORPHA:26
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern OMIM:617800
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebella... OMIM:617751
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Cavum septum pellucidum, Inability to walk, Sparse eyebrow, Difficulty walking, Hypopl... ORPHA:464738
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly OMIM:618276
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Abnormal cerebellar vermis morphology, Dystonia, Type II lissencepha... ORPHA:300570
Hydrocephalus, Congenital, 1
Seizure, Ventriculomegaly, Hydrocephalus OMIM:236600
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Atonic seizure, Ventriculomegaly, Cerebellar vermis hypoplasia, Cere... ORPHA:101070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Cerebral atrophy, Epicanthus, Synophrys, A... OMIM:617804
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ventriculomegaly, Abnormal cerebral white matter morphol... ORPHA:248111
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Epicanthus, Status epilepticus, ... OMIM:617507
Weiss-Kruszka Syndrome
Highly arched eyebrow, Agenesis of corpus callosum, Overfolded helix, Hypoplasia of the corpus ca... OMIM:618619
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Seizure, Abnormal... ORPHA:2703
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Pigmentary retinopathy, Ventriculomegaly, Growth delay, Seizure, Microcephaly OMIM:617613
Pettigrew Syndrome
Scoliosis, High-frequency hearing impairment, Gait ataxia, Ventriculomegaly, Seizure, Abnormality... OMIM:304340
Papilloma Of Choroid Plexus
Cognitive impairment, Seizure, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Hydrocephalus, Focal-onset seizure, Cerebellar hypoplasia,... OMIM:619302
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Seizu... ORPHA:85179
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Ventriculomegaly, Abnormality of the outer ear, Intrauterine... ORPHA:2515
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Dystonia, Increased CSF lactate, Cerebellar cyst, Hypoplasia of the corpus... ORPHA:79243
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Spastic gait, Impai... ORPHA:401815
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ven... OMIM:618476
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Seizure, Status epilepticus, Polymicrogyria, Focal impaired awareness seizure OMIM:612691
Cholesterol Pneumonia
Tachypnea, Cough, Death in infancy, Pneumonia OMIM:215030
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Ataxia, Low-set ears, Abnormal cerebellum morphology... ORPHA:1532
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Scoliosis, Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commi... OMIM:617542
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Macular hypoplasia, Seizure, Posteriorly rotated ears, Sensorineu... OMIM:615219
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Kyphoscoliosis, Microceph... OMIM:617977
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Ventriculomegaly, Seizure, Cerebellar atrophy, Optic atrophy OMIM:619323
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Cerebellar hypoplasia, Ataxia OMIM:618383
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220200
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Scoliosis, Cerebellar hypoplasia, Seizure, Infantile spasms, Polymicrogyria, Ptosis, Protruding e... OMIM:618731
Microcephaly 6, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Seizure, Microtia OMIM:608393
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Dementia,... OMIM:603472
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Hsd10 Disease
Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy, Seizure, Postnatal g... ORPHA:391417
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Basal ganglia cysts, Dystonia, Lethargy, Increased CSF lactate, Ventriculomegaly... OMIM:312170
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gait ataxia, Seizure, Unsteady gait, Periventricular white matter hyperdensities, Microtia OMIM:618158
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Congenital fibrosis of extr... OMIM:610031
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Cerebellar hypoplasia, Seizure, Inferior vermis hypoplasia, Microcephaly, ... OMIM:304100
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Macdermot-Winter Syndrome
Highly arched eyebrow, Macrotia, Ventriculomegaly, Seizure, Posteriorly rotated ears, Intrauterin... OMIM:247990
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Joubert Syndrome 33
Apnea OMIM:617767
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Ataxia, Retinal degeneration, Severe short stature, Cerebral calcification, Dec... OMIM:225755
Hemimegalencephaly
Pachygyria, Atonic seizure, Ventriculomegaly, Focal tonic seizure, Status epilepticus, Polymicrog... ORPHA:99802
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpu... OMIM:618492
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Agenesis of co... ORPHA:262767
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Gait disturbance, Seizure OMIM:611225
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Paroxysmal dystonia, Choreoathetosis, Cerebellar cyst, Hypoplasia of... ORPHA:2524
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cereb... ORPHA:77299
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Ventriculomegaly, Kyphosis, Hearing impairment, Cortical dysplasia,... ORPHA:319199
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Myoclonic seizure, Optic nerve hypoplasia, Tonic seizure, Foca... OMIM:618890
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Recurrent otitis media, Seizure, Spastic gai... OMIM:617616
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Akinesia, Ventriculomegaly, Cerebellar hypoplasia, Se... OMIM:225790
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Combined Oxidative Phosphorylation Defect Type 39
Scoliosis, Increased CSF lactate, Toe walking, Deep white matter hypodensities, Corpus callosum a... ORPHA:565624
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Ataxia, Generalized myoclonic seizure ORPHA:85334
Achondroplasia
Brain stem compression, Conductive hearing impairment, Rhizomelia, Recurrent otitis media, Megale... OMIM:100800
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growt... ORPHA:135
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Abnormality of ... OMIM:614583
Homocarnosinosis
Abnormality of retinal pigmentation OMIM:236130
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Abnormal periventricular white matter morphology, Pigmentary retinopathy, Hypoplasia o... ORPHA:370968
Lissencephaly 4
Growth delay, Cerebellar hypoplasia, Seizure, Short stature, Simplified gyral pattern, Microcepha... OMIM:614019
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Low-set, posteriorly rotated ears, Cerebellar hypoplasia, Septo-o... ORPHA:1528
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Pontocerebellar Hypoplasia, Type 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormality of the pinna, Seizure, Cerebral ... OMIM:615809
Malan Overgrowth Syndrome
Scoliosis, Hypoplasia of the brainstem, Episodic ataxia, Optic disc hypoplasia, Hypoplasia of the... ORPHA:420179
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Seizure, Hearing impairment, Memory impairment, Hydrocephalus ORPHA:1008
Xylosidase Deficiency
Ventriculomegaly, Seizure, Hearing impairment, Microcephaly, Choreoathetosis OMIM:278900
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Overfolded helix, Hypoplasia of the corpus callosum, Hypoplastic ... OMIM:618606
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Developmental And Epileptic Encephalopathy 54
Seizure, Microcephaly, Ventriculomegaly OMIM:617391
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Pigmentary retinopathy, Gait disturbance, Toe walking, Gen... ORPHA:216866
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Cerebellar cyst, Difficulty walking, Ventriculomegaly, Abnormal cerebral white matter... ORPHA:370980
Ataxia-Deafness-Intellectual Disability Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Ataxia, Cerebral cortical atro... ORPHA:1188
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Seconda... ORPHA:397951
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Growth delay, Seizure, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Partial absence of cerebellar vermis, Ventri... ORPHA:137831
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Kyphosis, Cerebellar hypoplasia, ... OMIM:618291
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:1929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Ventriculomegaly... OMIM:613153
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Hyperekplexia 3
Apnea OMIM:614618
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Jaberi-Elahi Syndrome
Scoliosis, Inability to walk, Dystonia, Gait ataxia, Sparse eyebrow, Kyphosis, Seizure, Low-set e... OMIM:617988
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Intrauterine growth retardation, Seizure, ... ORPHA:858
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Gait ataxia, Ventriculomegaly, Seizure, Status epilepticus, Myoclonus OMIM:616540
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Retinal degeneration, Cerebral dysmyelination, Dy... OMIM:252650
Mental Retardation, Autosomal Dominant 20
Inability to walk, Abnormal periventricular white matter morphology, Ventriculomegaly, Upslanted ... OMIM:613443
Kohlschutter-Tonz Syndrome
Dementia, Ventriculomegaly, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Seizure OMIM:226750
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of... ORPHA:306669
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Enlarged sylvian cistern, Macrotia, Hypoplasia of the corpus callosum... OMIM:600118
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Status... ORPHA:168486
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Seizure, Low-set ears... OMIM:610333
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Scoliosis, Highly arched eyebrow, Abnormal periventricular white matter morphology, Extra-axial c... OMIM:616900
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Seizure, Protruding ear, Short... ORPHA:1495
20P12.3 Microdeletion Syndrome
Thickened helices, Ventriculomegaly, Epicanthus, Seizure, Short stature, Downslanted palpebral fi... ORPHA:261295
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Seizure, Cerebral calcification, Intrauterine growth retardation, Microcephaly ORPHA:1980
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Hypoplasia of the pons, Cerebe... ORPHA:370959
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Epicanthus, Aganglionic megacolon, Abnormality of the pinna, Low-set ea... OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Remnants of the hyaloid vascular system, Pachygyria, Type II lissenc... OMIM:614643
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Developmental And Epileptic Encephalopathy 70
Scoliosis, Ventriculomegaly, Seizure, Cerebral cortical atrophy, Low-set ears, Tonic seizure, Mic... OMIM:618298
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Succinic Acidemia
Respiratory distress OMIM:600335
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Scoliosis, Conductive hearing impairment, Upslanted palpebral fissure, Epicanthus, Short stature,... OMIM:248910
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Mitochondrial Complex I Deficiency, Nuclear Type 16
Scoliosis, Dystonia, Choreoathetosis, Increased CSF lactate, Seizure, Ptosis, Intrauterine growth... OMIM:618238
Mental Retardation, Autosomal Dominant 22
Growth delay, Epicanthus, Abnormality of the pinna, Seizure, Low-set ears, Short stature, Microce... OMIM:612337
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Seizure, Agyria, Agenesis of corpus callosum, L... OMIM:300067
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Macrotia, Cerebellar hypoplasia, Abnormality of the pinna, Seizure, ... ORPHA:3078
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Torsion dystonia, Abnormal posturing, Kyphosis, Blepharospasm, Writer's... OMIM:128100
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Truncal ataxia, Ventriculomegaly, Cerebellar hypoplasia, Frontal pol... OMIM:606854
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Short stature, Microcephaly, Decreased response to grow... ORPHA:1261
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Autosomal Recessive Spastic Paraplegia Type 11
Scoliosis, Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atroph... ORPHA:2822
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Hypotonia ORPHA:79332
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Ventriculomegaly, Cerebellar vermis hypoplasia, Seizure, Low-set ears, Po... ORPHA:163961
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220220
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Macrotia, Hypoplasia of the corpus callosum, Ventriculomegaly, Chore... OMIM:618004
Mehmo Syndrome
Inability to walk, Gait ataxia, Macrotia, Difficulty walking, Hypoplasia of the corpus callosum, ... OMIM:300148
Caribbean Parkinsonism
Dystonia, Autonomic bladder dysfunction, Orthostatic hypotension, Dementia, Progressive gait atax... ORPHA:97355
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Cortical... OMIM:614039
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... ORPHA:272
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Blepharophimosis, Cerebral atrophy, Seizure, Low-set ears, ... ORPHA:171839
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Epicanthus, Abnormality of the pinna, Seizure, Low-set ears, Senso... OMIM:618500
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1568
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Broad eyebrow, Sensorineural hear... OMIM:612948
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Dystonia, Abnormal periventricular white matter morphology, Hypoplasia of the ... OMIM:614066
4Q21 Microdeletion Syndrome
Scoliosis, Ventriculomegaly, Kyphosis, Cerebellar hypoplasia, Long eyelashes, Synophrys, Growth d... ORPHA:238750
Spastic Paraplegia 75, Autosomal Recessive
Corpus callosum atrophy, Ventriculomegaly, Cerebellar atrophy, Dysmetria, Cognitive impairment, O... OMIM:616680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Epicanthus, Ataxia, Unilateral fa... OMIM:618547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Type II lissencephaly, Atresia of the external auditory canal, Agyri... OMIM:236670
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Epicanthus, Seizure, Polymicrogyria, D... OMIM:602501
1Q44 Microdeletion Syndrome
Scoliosis, Agenesis of corpus callosum, Hydrocephalus, Optic disc hypoplasia, Upslanted palpebral... ORPHA:238769
Foxg1 Syndrome
Scoliosis, Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Optic disc hypoplasia, Hypop... ORPHA:561854
Autosomal Recessive Cutis Laxa Type 2A
Dystonia, Abnormal cerebellar vermis morphology, Postnatal growth retardation, Downslanted palpeb... ORPHA:357058
Joubert Syndrome With Ocular Defect
Scoliosis, Highly arched eyebrow, Agenesis of corpus callosum, Abnormal vertebral morphology, Ret... ORPHA:220493
Holoprosencephaly 5
Semilobar holoprosencephaly, Macrotia, Holoprosencephaly, Upslanted palpebral fissure, Alobar hol... OMIM:609637
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Macrotia, Ventriculomegaly, Cerebellar hypoplasia, Hydra... OMIM:605013
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Ventriculomegaly, Focal-onset seizure, Ataxia, Seizure, Focal motor status epil... OMIM:619150
Orofaciodigital Syndrome Type 14
Open operculum, Short neck, Retinal coloboma, Hypoplasia of the corpus callosum, Upslanted palpeb... ORPHA:434179
Perching Syndrome
Respiratory distress OMIM:617055
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Scoliosis, Dystonia, Hypoplasia of the pons, Increased CSF lactate, Ventriculomegaly, Seizure, Ce... ORPHA:500144
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus ... ORPHA:464282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Scoliosis, Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cereb... OMIM:615249
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Paresthesia, Ventriculomegaly, Kyphosis, Long eyelashes, Ataxia, Intrauterine growth r... ORPHA:48431
Joubert Syndrome 31
Truncal ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cognitive impairment, Molar ... OMIM:617761
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Epicanthus, Sacral dimple, Low-set ears, Stenosis of the exter... ORPHA:1516
Paganini-Miozzo Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Dilation of lateral ventricles, Lo... OMIM:301025
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment ORPHA:99000
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Epicanthus, Status epilept... OMIM:615760
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Inability to walk, Agenesis of corpus callosum, Focal-onset seizure,... OMIM:618651
Lissencephaly 6 With Microcephaly
Almond-shaped palpebral fissure, Pachygyria, Macrotia, Hypoplasia of the corpus callosum, Ventric... OMIM:616212
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Upslanted palpebral fissure, Ventriculomegaly, Epicanthus, Abn... ORPHA:251056
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Rhizomelia, Upslanted palpebral fissure, Cerebral atrophy, Low-set, posteriorly rotate... OMIM:611209
Femoral-Facial Syndrome
Scoliosis, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Upslanted palpebral fissu... ORPHA:1988
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Ce... ORPHA:500180
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Se... ORPHA:2182
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Ventriculomegaly, Cerebral atrophy, Seizure, Microcephaly, Choreoathetosis OMIM:616034
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Hearing impairment, Cort... ORPHA:457260
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Mental Retardation, Buenos Aires Type
Curly eyelashes, Cuboid-shaped thoracolumbar vertebral bodies, Long eyelashes, Low-set ears, Spas... OMIM:249630
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Upslanted palpebral fissure, Seizure, Short stature, Microcephaly, Vertebral s... OMIM:612530
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Papillary Tumor Of The Pineal Region
Episodic ataxia, Abnormal eyelid morphology, Difficulty walking, Increased CSF protein, Cognitive... ORPHA:251915
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Spina bifida, Blepharophimosis, Abnormal form of the vertebral bodies, Low... ORPHA:1327
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Multifocal seizures, Abnormal periventricular white matter morpholog... ORPHA:572798
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Delayed puberty, Abnormal retinal vascular morphol... ORPHA:2994
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Impaired ta... ORPHA:206448
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis, Seizure, Microcephaly, Agenesis of corp... ORPHA:1496
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Autosomal Recessive Primary Microcephaly
Pachygyria, Ventriculomegaly, Upslanted palpebral fissure, Growth delay, Short stature, Hypoplasi... ORPHA:2512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Pachygyria, Cerebellar cyst, Difficulty walking, Ventriculomegaly, Abno... OMIM:606612
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Inability to walk, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Cer... OMIM:618443
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Focal-onset seizure, Ventriculomegaly, Growth delay, Tonic seizure, ... OMIM:308350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Long eyelashes, Se... OMIM:618577
Shashi-Pena Syndrome
Scoliosis, Highly arched eyebrow, Ventriculomegaly, Kyphosis, Seizure, Low-set ears, Posteriorly ... OMIM:617190
Even-Plus Syndrome
Highly arched eyebrow, Coronal cleft vertebrae, Synophrys, Severe short stature, Dysplastic corpu... OMIM:616854
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Ventriculomegaly, Long eyelashes, Synophrys, Postnatal growth retardation,... OMIM:300590
Lissencephaly 8
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Polymi... OMIM:617255
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Abnormality of the vertebral column, Hydrocephalus, Ventriculomegaly... OMIM:109120
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Pelvis-Shoulder Dysplasia
Spina bifida, Bilateral external ear deformity, Abnormal form of the vertebral bodies, Retinal co... ORPHA:2839
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Ataxia, ... OMIM:618273
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Punctate vertebral calcifications, Seizure, Hearing impairment, Int... ORPHA:1914
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Impaired vibratory sensation, Paresthesia, Impaired temperature sensation, Inability t... ORPHA:99947
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensit... ORPHA:488627
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Clcn4-Related X-Linked Intellectual Disability Syndrome
Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter mo... ORPHA:485350
Cerebrofacioarticular Syndrome
Blepharophimosis, Conductive hearing impairment, Hypoplasia of the corpus callosum, Ventriculomeg... ORPHA:314679
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Sparse eyebrow, Hemivertebrae, Seizure, Microtia, Short stature, Microcephaly, Attenti... ORPHA:370079
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Diffuse cerebellar atrophy, Progressive gait ataxia, Broad-based gait, Ventri... ORPHA:363429
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Seizure, Sensorineural hearing impairment, Cerebral calcifica... OMIM:612951
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Hemifacial Atrophy, Progressive
Blepharophimosis, Kyphosis, Ataxia, Seizure, Microtia, Horner syndrome OMIM:141300
Developmental And Epileptic Encephalopathy 59
Seizure, Scoliosis, Ventriculomegaly, Inability to walk OMIM:617904
Microcephaly 26, Primary, Autosomal Dominant
Scoliosis, Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Extra-axial... OMIM:619179
Ravine Syndrome
Apnea ORPHA:99852
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Coloboma Of Macula
Macular coloboma OMIM:120300
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Growth delay, Seizure, Cerebellar atrophy, Atrophy/Degenerati... OMIM:614946
Microcephaly 16, Primary, Autosomal Recessive
Seizure, Ptosis, Telecanthus, Short stature, Simplified gyral pattern, Microcephaly, Agenesis of ... OMIM:616681
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Seizure, Cerebral cortical atrophy, Cerebral calcification, Memory impa... ORPHA:2770
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Myopathy, Congenital, Bailey-Bloch
Blepharophimosis, Conductive hearing impairment, Ventriculomegaly, Low-set ears, Ptosis, Short pa... OMIM:255995
Joubert Syndrome With Renal Defect
Scoliosis, Highly arched eyebrow, Agenesis of corpus callosum, Low-set, posteriorly rotated ears,... ORPHA:220497
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Growth delay, Cerebral atrophy, Seizure, Hyperactivity, Microcephaly, Optic atrophy, Ag... OMIM:274270
Slc35A2-Cdg
Scoliosis, Cerebral white matter atrophy, Abnormal midbrain morphology, Elevated circulating thyr... ORPHA:356961
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia o... ORPHA:85278
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Scoliosis, Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Pontocerebellar Hypoplasia, Type 2E
Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Epicanthus, Sec... OMIM:615851
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar cyst, Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Optic atrophy, Hypoplasia... OMIM:613151
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Abnormal nerve conduction velocity, Kyphosis, Gait disturbance, Ataxia, Impaired pain ... ORPHA:99014
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Cutis Laxa, Autosomal Recessive, Type Iib
Scoliosis, Hydrocephalus, Intrauterine growth retardation, Protruding ear, Downslanted palpebral ... OMIM:612940
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Abnormal anterior horn cell morphology, Dystonia, Inability to walk, Short neck, Diffi... OMIM:611890
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Pigmentary retinopathy, Kyphosis, Gait disturbance... ORPHA:88628
Chromosome 3Q13.31 Deletion Syndrome
Macrotia, Ventriculomegaly, Epicanthus, Alobar holoprosencephaly, Low-set ears, Ptosis, Agenesis ... OMIM:615433
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, T2 hypointense basal ganglia, Vertigo, Chorea, Ventriculomegaly, Ataxia, Dementia, Pall... ORPHA:25
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Macrotia, Ventriculomegaly, Cerebral atrophy, Epicanthus, Seizure, Thick eyebrow,... OMIM:617268
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Highly arched eyebrow, Pachygyria, Overfolded helix, Ventriculomegaly, Ep... OMIM:243310
Distal Monosomy 17Q
Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Upslanted palpebral fis... ORPHA:1597
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Walker-Warburg Syndrome
Chorioretinal dysplasia, Hydrocephalus, Pachygyria, Ventriculomegaly, Low-set ears, Lissencephaly... ORPHA:899
Mitochondrial Complex I Deficiency, Nuclear Type 19
Scoliosis, Inability to walk, Ventriculomegaly, Gait disturbance, Seizure, Cerebellar atrophy, My... OMIM:618241
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Conductive hearing impairment, Optic nerve hypoplasia, Sh... OMIM:609053
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Mental Retardation, Autosomal Dominant 57
Scoliosis, Blepharophimosis, Upslanted palpebral fissure, Kyphosis, Epicanthus, Toe walking, Otit... OMIM:618050
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Ventric... ORPHA:228384
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Cerebral cortical atrophy, Spastic gait, Aplasia/Hypoplasia of the cerebellar... ORPHA:401820
Brain Small Vessel Disease 2
Porencephalic cyst, Focal-onset seizure, Ventriculomegaly, Growth delay, Bilateral tonic-clonic s... OMIM:614483
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Epicanthus, Ataxia, Seizure, Subependymal cysts, Unsteady gait, Microcephaly, Optic atr... OMIM:245349
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral whi... OMIM:615803
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hypoplasia, Aqueductal... OMIM:307000
Intellectual Developmental Disorder, Autosomal Dominant 65
Macrotia, Upslanted palpebral fissure, Narrow palpebral fissure, Dysgenesis of the hippocampus, S... OMIM:619320
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Horizontal eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Long eyelashes, Synophry... OMIM:618381
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Scoliosis, Pigmentary retinopathy, Atonic seizure, Ventriculomegaly, Increased CSF lactate, Bilat... OMIM:619059
Mitochondrial Complex I Deficiency, Nuclear Type 33
Progressive neurologic deterioration, Ventriculomegaly, Abnormal cerebral white matter morphology... OMIM:618253
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum, Telecanthus, Hydrocephalus ORPHA:380
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Arnold-Chiari type I malforma... OMIM:218350
Apnea, Central Sleep
Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Abnormality of the basal ganglia, Age... ORPHA:101029
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Increased CSF lactate, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral at... OMIM:617248
Sjögren-Larsson Syndrome
Scoliosis, Abnormality of retinal pigmentation, Macular degeneration, Kyphosis, Spastic diplegia,... ORPHA:816
Joubert Syndrome With Oculorenal Defect
Scoliosis, Chorioretinal coloboma, Highly arched eyebrow, Aplasia/Hypoplasia of the corpus callos... ORPHA:2318
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome 30
Ventriculomegaly, Retinal dystrophy, Seizure, Cerebellar atrophy, Ptosis, Molar tooth sign on MRI... OMIM:617622
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Combined Oxidative Phosphorylation Deficiency 2
Low-set ears, Ventriculomegaly, Lethargy, Agenesis of corpus callosum OMIM:610498
Pierpont Syndrome
Scoliosis, Uplifted earlobe, Macrotia, Ventriculomegaly, Narrow palpebral fissure, Posteriorly ro... ORPHA:487825
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Ventriculomegaly, Aquedu... ORPHA:1136
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Progressive neurologic deterioration, Dystonia, Truncal ataxia, Aplasia/Hypoplasia of the corpus ... ORPHA:88639
Krabbe Disease
Seizure, Increased CSF protein, Motor deterioration, Hearing impairment, Diffuse cerebral atrophy... OMIM:245200
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Meier-Gorlin Syndrome 8
Low-set ears, Ptosis, Intrauterine growth retardation, Microcephaly, Microtia OMIM:617564
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity... OMIM:218000
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Sensorineural hearing impairment, Macrotia ORPHA:2158
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Linear Verrucous Nevus Syndrome
Scoliosis, Aplasia/Hypoplasia of the fovea, Mental deterioration, Aplasia/Hypoplasia of the corpu... ORPHA:2611
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Seizure, Cerebral calcification, Hydroce... ORPHA:1931
Coach Syndrome 2
Chorioretinal coloboma, Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Age... OMIM:619111
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter ... OMIM:300354
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Epicanthus, Low-set ears, Kyphoscoliosis, Hydrocephalus OMIM:600991
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteri... ORPHA:1926
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Cerebellar vermis hypoplasia, Epicanthus, Enlarged... OMIM:608629
Intellectual Developmental Disorder, X-Linked 103
Seizure, Ventriculomegaly, Polymicrogyria OMIM:300982
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Dystonia, Focal-onset seizure, Cerebellar hypoplasia, Bilateral toni... OMIM:619301
16Q24.3 Microdeletion Syndrome
Scoliosis, Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Upslanted ... ORPHA:261250
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Seizure, Low-set ears, Posteriorly rotated ears, Short stature, Hyperactivity, Do... OMIM:618089
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse white matter abnormalities, Febrile seizure (within the age range of 3 months to 6 years)... ORPHA:466934
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ventriculomegaly, Cerebral atrophy, Epicanthus, Abnormality of the pinna, Seizure, Low-set ears, ... OMIM:618164
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia, Impaired pain ... ORPHA:101075
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Seizure, Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Opti... OMIM:614833
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Abnormal pattern of respiration, Stridor OMIM:608800
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Retinal deg... OMIM:272200
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Abnormality of the vertebral column, Abnormal vertebral morphology, Epicanthus, Ataxia,... OMIM:250620
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Thoracic hemi... OMIM:301043
Williams-Beuren Region Duplication Syndrome
Horizontal eyebrow, Overfolded helix, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebe... OMIM:609757
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Mental deterioration, Abnormal periventricular ... OMIM:604360
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Dementia, Ventriculomegaly, Ataxia, Seizure, Broad-based gait OMIM:206570
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Low-set ears, Downslanted palpebral fissures... ORPHA:217385
Mitochondrial Complex I Deficiency, Nuclear Type 31
Progressive neurologic deterioration, Ventriculomegaly, Seizure, Sensorineural hearing impairment... OMIM:618251
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Focal-onset seizure, Ventriculomegaly... ORPHA:395
Huntington Disease-Like 1
Gait ataxia, Dementia, Chorea, Ventriculomegaly, Gait disturbance, Bradykinesia, Seizure, Cerebra... ORPHA:157941
Mental Retardation, Autosomal Dominant 36
Inability to walk, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, D... OMIM:616362
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Hypoplasia of the corpus callosum, Bradykinesia, Seizure, Dysplastic corpus callosum, P... OMIM:614924
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitary gland, Sacral dimple... ORPHA:93932
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Seizure, Polymicrogyria, Telecanthus ORPHA:83473
19P13.3 Microduplication Syndrome