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:
Down syndrome cell adhesion molecule,  4932410A21Rik

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
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Asthma, Susceptibility To
Asthma, Bronchoconstriction OMIM:600807
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
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Severe senso... OMIM:604213
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Olivopontocerebellar atrophy, Ventriculomegaly, Ataxia, Cerebral cortical... ORPHA:2732
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebral atrophy, Cerebellar atrophy, Diffuse swelling of cerebral white matter, Mental deteriora... OMIM:613925
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia, Abnormal vertebral morphology, Mic... OMIM:618709
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Hearing impairment, Ventriculomegaly, Mild malformation of cortical d... ORPHA:500166
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
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Sensorineural hearing impairment, Small cerebral cortex... ORPHA:2185
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Ventriculomegaly, High... OMIM:608716
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Ventriculomegaly, Abnormal cerebellum morpho... ORPHA:329228
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, ... OMIM:618677
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Distal sensory impairment, Optic disc pallor, Scoliosis, Difficulty walking, Optic atrophy OMIM:617087
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Hydrocephalus, S... ORPHA:2703
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Kyphosis, Agenesis of corpus callosum, Low-set ears, Dilated third ventricle, L... OMIM:619244
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Simplified gyral pattern, Hypoplasia of the brainstem, Cortical dysplasia, Hypo... OMIM:615763
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Hearing impairment, Inability to walk, Ventriculomegaly, Infantile spasms, Atax... OMIM:619701
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Cerebellar hypoplasia, Growth delay, Abnorma... ORPHA:488635
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Retinal pigment epithelial atrophy, Macular dystrophy, ... OMIM:608051
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Upslanted palpebral fissure, Spastic gait, Progressive microcephaly, Cerebellar hypoplasia, Inabi... OMIM:616486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Ventriculomegaly, Hypotonia, Generalized hypotonia, Hydrocephalus, Type II lis... OMIM:614830
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Pineocytoma
Hearing abnormality, Cognitive impairment, Increased CSF protein, Memory impairment, Abnormal eye... ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosu... ORPHA:939
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Microcephaly, Lissencephaly, Hypop... OMIM:611603
Porencephaly
Porencephalic cyst, Seizure, Ventriculomegaly ORPHA:2940
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Progressive microcephaly, Ventr... OMIM:617862
Retinal Detachment
Retinal detachment OMIM:180050
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Hy... ORPHA:250972
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Low-set ears, Aplasia/Hypoplasia of the cere... OMIM:300864
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Ventriculomegaly, Subcortical band heterotopia, Hypoplasia of the ... OMIM:607432
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Masa Syndrome
Kyphosis, Agenesis of corpus callosum, Shuffling gait, Hyperlordosis, Ventriculomegaly, Microceph... OMIM:303350
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Sacral dimple, Hyperintensity of cerebral whit... ORPHA:544488
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Cerebellar atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia o... OMIM:618730
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Scissor gait, Diffuse cerebral atrophy, Dilation of lateral ventricles, ... ORPHA:363654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Agenesis of corpus callosum, Hearing impairment, Ventriculomegaly, Microcephaly, Scoliosis, Cereb... OMIM:617669
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar hypoplasia, Rhizomelic arm shortening, Dandy-Walk... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Retinal dysplasia, Ventriculomegaly, Dandy-Walker malformation, Hydrocepha... OMIM:613154
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Downslanted palpebral ... ORPHA:3207
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Seizure, Ataxia, Hydrocephalus ORPHA:99966
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Ataxia, Microcephaly, Simplified ... OMIM:613402
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Alg13-Cdg
Cognitive impairment, Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
Fried Syndrome
Cerebral calcification, Abnormality of the optic nerve, Abnormal cerebellum morphology, Gait dist... ORPHA:85335
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Long eyelashes, Ventriculomegaly, Microcephaly, Dandy-Walker malformation... OMIM:617281
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria, Seizure, Enlarged sylvian cistern OMIM:615752
Gm1-Gangliosidosis, Type Ii
Cerebral atrophy, Generalized myoclonic seizure, Ataxia, Ventriculomegaly, Platyspondyly, Progres... OMIM:230600
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Low-set ears, Microcephaly, Hydrocephalus, Seizure, Optic atrophy OMIM:300884
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Simplified gy... OMIM:617090
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Cerebral atrophy, Seizure, Ventriculomegaly OMIM:617051
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Agenesis of corpus callosum, Low-set ears, Cerebellar hypoplasia, Status epil... ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Aicardi Syndrome
Chorioretinal lacunae, Block vertebrae, Choroid plexus cyst, Retinal detachment, Microcephaly, Da... OMIM:304050
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Optic atrophy, Hydrocephalus ORPHA:1538
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Congenital Glaucoma
Retinal detachment ORPHA:98976
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Spastic gait, Dilated third ventricle, Optic nerve dysplasia, Partial agenesis ... OMIM:617296
Narp Syndrome
Corticospinal tract atrophy, Myoclonic spasms, Retinal arteriolar tortuosity, Dementia, Ventricul... ORPHA:644
Masa Syndrome
Ventriculomegaly, Short stature, Agenesis of corpus callosum, Gait disturbance ORPHA:2466
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Thick... ORPHA:1083
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Cortical dysplasia, Bi... ORPHA:101071
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Tonic seizure, Reduced amygdala volume, Hypoplastic hippocampus, Focal-onset seizure, Microcephal... OMIM:619517
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
16P13.2 Microdeletion Syndrome
Hydrocephalus, Kyphosis, Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly... ORPHA:500055
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Memory impair... ORPHA:314404
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Ataxia, Microcephaly, Abnormal periventricular white matter morphology, ... OMIM:619725
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral atrophy, Ventriculomegaly OMIM:612900
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Ventriculomegaly, Infantile spasms, Pachygyria, Motor seizure, Seizure, Enlarged sylvian ... ORPHA:1084
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Central Neurocytoma
Cerebral calcification, Tinnitus, Ataxia, Abnormal lateral ventricle morphology, Paresthesia, Hyd... ORPHA:73256
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Hearing impairment, Porencephalic cyst, Subcortical band ... OMIM:615191
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Low-set ears, Cerebellar hypoplasia, Sensorineura... OMIM:617751
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Colpocephaly, Pachygyria, Seizure OMIM:614870
Cone-Rod Dystrophy 11
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy OMIM:610381
Autosomal Dominant Non-Syndromic Intellectual Disability
Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Scoliosis, Epileptic spas... ORPHA:178469
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Polym... ORPHA:171703
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Upslanted palpebral fissure, Holoprosenc... OMIM:609637
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Kyphosis, Agenesis of corpus callosum, Low-set ears, Cavum septum pellucidum, D... ORPHA:464738
Alexander Disease
Seizure, Ataxia, Increased CSF protein, Hydrocephalus OMIM:203450
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Colpocephaly, Cupped ear, Agenesis o... OMIM:618619
Bowen-Conradi Syndrome
Severe postnatal growth retardation, Ventriculomegaly, Severe intrauterine growth retardation, Mi... ORPHA:1270
Microcephaly 19, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617800
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Ptosis, Microcephaly, Dandy-Walker malformat... OMIM:618736
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar dysplasia, Atonic seizure, Generalized myoclonic seizure, Ven... ORPHA:101070
Hydrocephalus, Congenital, 1
Seizure, Ventriculomegaly, Hydrocephalus OMIM:236600
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Pettigrew Syndrome
Cerebral calcification, High-frequency hearing impairment, Abnormality of the basal ganglia, Chor... OMIM:304340
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Peho-Like Syndrome
Cerebellar atrophy, Progressive microcephaly, Ventriculomegaly, Lissencephaly, Pachygyria, Myoclo... OMIM:617507
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Kyphosis, Sensorineural hearing impairment, Waddling gait, Generalized myocloni... OMIM:616756
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Growth delay, Microcephaly, Pigmentary retinopathy, Pachygyria, Seizure OMIM:617613
Papilloma Of Choroid Plexus
Cognitive impairment, Seizure, Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Cerebral atrophy, Cerebellar atrophy, Low-set ears, Inability to walk, Ventriculomegaly, Ataxia, ... OMIM:617804
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocepha... OMIM:619470
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Focal impaired awareness seizure, Polymicrogyria, Seizure, Status epilepticus OMIM:612691
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type I... ORPHA:300570
Gómez-López-Hernández Syndrome
Cognitive impairment, Abnormal brainstem morphology, Low-set ears, Impaired pain sensation, Ataxi... ORPHA:1532
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Inability to walk, Ataxia, Microcephaly OMIM:618276
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Basal ganglia necrosis, Microcephaly, Cerebellar gliosis, Dilation of latera... ORPHA:79243
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Microcephaly-Cardiomyopathy Syndrome
Abnormality of the outer ear, Cognitive impairment, Intrauterine growth retardation, Abnormality ... ORPHA:2515
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy, Microcephaly, Gait disturbance, Seizure ORPHA:26
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Combined Oxidative Phosphorylation Deficiency 39
Intrauterine growth retardation, Abnormal cerebellum morphology, Ventriculomegaly, Microcephaly, ... OMIM:618397
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Colpocephaly, Cerebellar hypoplasia, Impaired vibration sensation in the lower limb... ORPHA:401815
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Kyphoscolio... OMIM:617977
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Conductive hearing impairment, Hypoplastic hippoca... ORPHA:85179
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Mental deterioration, Ventriculomeg... OMIM:618476
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Focal-onset seizure, Partial agenesis of the ... OMIM:619302
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Ventriculomegaly, Downslanted palpebral fissures, Posteriorly ro... OMIM:617557
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Ventriculomegaly, Gait ataxia, Seizure, Optic atrophy OMIM:619323
Cholesterol Pneumonia
Death in infancy, Tachypnea, Pneumonia, Cough OMIM:215030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Dysgyria, Hypoplasia of the brainstem, Hydrocepha... ORPHA:352682
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Abnormality of the ear, Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Sensorineural hearing impairment, Ventriculomegaly, Se... OMIM:615219
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment OMIM:613310
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Small cerebral cortex, Seizure, Microtia OMIM:608393
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Cognitive impairment, Increased CSF protein, Dementia, Ventriculomeg... OMIM:603472
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia, Cervical platyspondyly, Ptosis, Microcephaly, Scoliosis, Pro... OMIM:618731
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ataxia, Ventriculomegaly, Cerebellar hypoplasia OMIM:618383
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Tonic seizure, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Focal mot... OMIM:618890
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia, Unsteady gait, Gait ataxia, Periventricular white matter hyperintensities, Seizure OMIM:618158
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Broad eyebrow, Microcephaly, Synophrys, Hydrocephalus, Narrow palpebral fissu... OMIM:618302
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Hsd10 Disease
Choreoathetosis, Hearing impairment, Ventriculomegaly, Ataxia, Microcephaly, Gait disturbance, Po... ORPHA:391417
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular coloboma, Macular atrophy OMIM:618220
Macdermot-Winter Syndrome
Intrauterine growth retardation, Ventriculomegaly, Highly arched eyebrow, Microcephaly, Macrotia,... OMIM:247990
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Generalized-onset seizure... ORPHA:77299
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Retinal degeneration, Severe short stature, Ataxia, Ventriculomegaly, Dec... OMIM:225755
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cach Syndrome
Cerebral atrophy, Optic neuritis, Abnormal pons morphology, Atrophy/Degeneration affecting the br... ORPHA:135
Spastic Paraplegia 18, Autosomal Recessive
Hypoplasia of the corpus callosum, Kyphosis, Scoliosis, Gait disturbance, Seizure OMIM:611225
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Abnormal cerebral white matter morphology, Dementi... ORPHA:248111
Joubert Syndrome 33
Apnea OMIM:617767
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Hemimegalencephaly
Focal cortical dysplasia, Atonic seizure, Focal tonic seizure, Hyperintensity of cerebral white m... ORPHA:99802
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Tonic seizure, Increased CSF protein, Hyperintensity of cerebral white m... OMIM:611722
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callos... OMIM:304100
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Short st... ORPHA:262767
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia, Generalized myoclonic seizure, Macular degeneration ORPHA:85334
Homocarnosinosis
Abnormality of retinal pigmentation OMIM:236130
Achondroplasia
Neonatal short-limb short stature, Recurrent otitis media, Spinal stenosis with reduced interpedi... OMIM:100800
Skraban-Deardorff Syndrome
Recurrent otitis media, Spastic gait, Sparse lateral eyebrow, Ventriculomegaly, Hypoplasia of the... OMIM:617616
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Upslanted palpebral fissure, Agenesis of corpus callosum, Inability to walk, Mi... OMIM:618492
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Growth delay, Microcephaly, Lissencephaly, Si... OMIM:614019
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Abnormal hippocampus morphology, Hyp... ORPHA:208447
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Downslanted palpebral fissures, Abn... ORPHA:79326
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal pons morphology, Cerebellar hypoplasia, Loss of ability to walk, Ventriculomegaly, Micro... ORPHA:370968
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Abnormal eyelash morphology, Hydrocephalus, Seizure, Hearing impairment ORPHA:1008
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Choreoatheto... OMIM:312170
Xylosidase Deficiency
Choreoathetosis, Ventriculomegaly, Microcephaly, Seizure, Hearing impairment OMIM:278900
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of retinal pigmentation, Spastic... ORPHA:397951
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tonic seizure... OMIM:619606
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Choreoathetosis... ORPHA:2524
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Malan Overgrowth Syndrome
Episodic ataxia, Ventriculomegaly, Optic disc hypoplasia, Hypoplasia of the brainstem, Downslante... ORPHA:420179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Low-set ears, Cerebellar hypoplasia, Retinal detachment, Optic nerve hypop... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Ret... OMIM:613153
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Short neck, Intrauterine growth retardation, Low-set ears, Long eyelashes, Aplasia/Hypoplasia of ... ORPHA:505237
Pontocerebellar Hypoplasia, Type 13
Long eyelashes, Hypoplastic hippocampus, Inability to walk, Epicanthus, Microcephaly, Dandy-Walke... OMIM:618606
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Atrophy/Degeneration affecting the brainst... ORPHA:565624
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, Type II lissencephaly ORPHA:324416
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Abnormal ear morphology, Primary microcephaly, Seizure OMIM:618010
Congenital Toxoplasmosis
Cerebral calcification, Cognitive impairment, Intrauterine growth retardation, Abnormality of ret... ORPHA:858
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Cerebellar cyst, Ventriculomegaly, Microcephaly, Pachygyria, Tip-toe gait, Ky... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Cerebellar hypoplasia, Occipital encephalocele, Anencephaly, Retinal... OMIM:615287
Developmental And Epileptic Encephalopathy 54
Microcephaly, Seizure, Ventriculomegaly OMIM:617391
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Low-set ears, Inability to walk, Ventriculomegaly, Abnormal perivent... OMIM:613443
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Cereb... OMIM:616900
Ataxia-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Ventriculomegaly, Decreased nerve conduction velocity, ... ORPHA:1188
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Microcephaly, Hypoplasia of th... ORPHA:370959
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Ventriculomegaly, Gait ataxia, Scoliosis, Seizure, Myoclonus OMIM:616540
Kohlschutter-Tonz Syndrome
Cerebral atrophy, Cerebellar hypoplasia, Dementia, Ventriculomegaly, Ataxia, Seizure OMIM:226750
Developmental And Epileptic Encephalopathy 70
Tonic seizure, Low-set ears, Ventriculomegaly, Microcephaly, Scoliosis, Cerebral cortical atrophy... OMIM:618298
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Low-set ears, Optic atrophy, Cerebellar hypoplasia... OMIM:600118
Hyperekplexia 3
Apnea OMIM:614618
20P12.3 Microdeletion Syndrome
Microtia, Ventriculomegaly, Downslanted palpebral fissures, Short stature, Epicanthus, Thickened ... ORPHA:261295
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Pontocerebellar Hypoplasia, Type 16
Low-set ears, Cerebellar hypoplasia, Ventriculomegaly, Ptosis, Scoliosis, Cerebral cortical atrop... OMIM:619527
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Kyphosis, Agenesis of corpus callosum, Choreoathetosis, Low-set ea... OMIM:617988
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Lissencephaly, Pachygyria, Postnatal growth retardat... OMIM:300067
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Intrauterine growth retardation, Ventriculomegaly, Microcephaly, Seizure ORPHA:1980
Baraitser-Winter Syndrome 2
Short neck, Agenesis of corpus callosum, Ventriculomegaly, Ptosis, Highly arched eyebrow, Lissenc... OMIM:614583
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Ventriculomegaly, Growth delay, Microcephaly, Short stature, Hyp... ORPHA:1495
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Impaired proprioception, Impaired vibratory sensation, Abnormality of the auditory cana... ORPHA:319199
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Atr... OMIM:236670
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Low-set ears, Dandy-Walker malformation, Agenesis of cerebellar vermis,... OMIM:220220
Pontocerebellar Hypoplasia, Type 9
Progressive microcephaly, Ventriculomegaly, Microcephaly, Downslanted palpebral fissures, Cerebra... OMIM:615809
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Abnormal brainstem morphology, Low-set ears, Ventriculomegaly, Dandy-Walk... 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
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Caudate atrophy, Retrocerebellar cyst, Cerebellar hypoplasia, Generalized myoclonic seizure, Vent... ORPHA:137831
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Intrauterine ... ORPHA:255138
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Upslanted palpebral fissure, Conductive hearing impairment, Microtia, Microcephaly, Short stature... OMIM:248910
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Ventriculomegaly, Seizure, Focal-onset seizure, Microcephaly, Ataxia, Chorea, Focal motor ... OMIM:619150
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Aganglionic megacolon, Microtia, Ptosis, Epicanthus, Downslanted palpebral fissures... OMIM:613603
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Low-set ears, Blepharophimosis, Microtia, Chiari malformation, Hydrocephalus, A... ORPHA:171839
Mehmo Syndrome
Birth length less than 3rd percentile, Delayed puberty, Inability to walk, Ventriculomegaly, Micr... OMIM:300148
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Retinal dysplasia, Ve... ORPHA:272
Polymicrogyria, Bilateral Frontoparietal
Cerebral dysmyelination, Dysmetria, Cerebellar hypoplasia, Perisylvian polymicrogyria, Ventriculo... OMIM:606854
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Low-set e... OMIM:610333
Rasmussen Subacute Encephalitis
Cognitive impairment, Focal aware seizure, Abnormality of the cerebrospinal fluid, Epileptic spas... ORPHA:1929
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Aganglionic megacolon, Ataxia, Ptosis, High... ORPHA:220493
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Retinal degeneration, Abnormal substantia nigra morphology, Memory impai... ORPHA:2822
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypoplasia, Profound he... ORPHA:3078
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Retinal degeneration, Mi... OMIM:252650
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Ventriculomegaly, Microcephaly, Short stature, Decreased response to grow... ORPHA:1261
Paganini-Miozzo Syndrome
Low-set ears, Microtia, Febrile seizure (within the age range of 3 months to 6 years), Downslante... OMIM:301025
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Recurrent otitis media, Low-set ears, Dilated third ventricle, Sensorineural heari... OMIM:619575
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Upslanted palpebral fissure, Agenesis of corpus callosum, Sensorineural hearing im... OMIM:612948
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Cognitive impairment, Dysmetria, Ventriculomegaly, Corpus callosum atrophy, O... OMIM:616680
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Seizure, Polymicrogyria OMIM:300982
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Low-set ears, Growth delay, Microcephaly, Short stature, Epicanthus,... OMIM:612337
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cognitive impairment, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of... OMIM:615181
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallo... ORPHA:216866
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Intrauterine growth retardation, Low-set ears, Conductive hearing impairment, Sensorineural heari... OMIM:618500
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Papilledema OMIM:260500
4Q21 Microdeletion Syndrome
Short neck, Agenesis of corpus callosum, Low-set ears, Long eyelashes, Cerebellar hypoplasia, Int... ORPHA:238750
Foxg1 Syndrome
Abnormal corpus callosum morphology, Cognitive impairment, Agenesis of corpus callosum, Progressi... ORPHA:561854
1Q44 Microdeletion Syndrome
Upslanted palpebral fissure, Agenesis of corpus callosum, Telecanthus, Ventriculomegaly, Optic di... ORPHA:238769
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Short neck, Sacral dimple, Low-set ears, Downslanted palpebral... ORPHA:1516
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Scoliosis, Difficulty walking ORPHA:306669
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Short neck, Intrauterine growth retardation, Microtia, Punctate vertebral calci... ORPHA:1914
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1568
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Progressive microcephaly, Low-set ears, Cerebellar vermis atrophy, Ventriculome... OMIM:615760
Martsolf Syndrome 2
Microcephaly, Short stature, Macrotia, Hypoplasia of the corpus callosum, Dilation of lateral ven... OMIM:619420
Even-Plus Syndrome
Dysplastic corpus callosum, Coronal cleft vertebrae, Vertebral clefting, Short neck, Agenesis of ... OMIM:616854
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Cavum septum pellucidum, Ventriculomegaly, Downslanted palpebral fissures, Megalen... OMIM:602501
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Hearing impairment, Ventriculomegaly, Infantile spasms, Ataxia, Rod-cone dyst... OMIM:618547
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Cerebellar hypoplasia, Ventriculomegaly, Scoliosis, Cerebral cortical atrophy, Hypoplas... OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Retinal degeneration, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar h... OMIM:615249
Perching Syndrome
Respiratory distress OMIM:617055
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Abnormal vertebral morpho... ORPHA:166024
Congenital Disorder Of Glycosylation, Type Iig
Cerebral atrophy, Cerebellar atrophy, Upslanted palpebral fissure, Short neck, Progressive microc... OMIM:611209
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Low-set ears, Posteriorly rotated ears, Epicanthus, Conjunctival hyp... OMIM:619548
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Inability to walk, Seizure, Ventriculomegaly OMIM:619561
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of the brainst... OMIM:617255
Joubert Syndrome 31
Cognitive impairment, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosu... OMIM:617761
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment ORPHA:99000
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Femoral-Facial Syndrome
Upslanted palpebral fissure, Abnormal sacrum morphology, Low-set ears, Aplasia/Hypoplasia of the ... ORPHA:1988
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Upslanted palpebral fissure, Kyphosis, Low-set ears, Cerebellar hypoplasia, Per... OMIM:618443
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Hydrocephalus, Absent septum pellucidum, Aqueduct... ORPHA:2182
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Orofaciodigital Syndrome Type 14
Upslanted palpebral fissure, Short neck, Dilated fourth ventricle, Dilated third ventricle, Molar... ORPHA:434179
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Short neck, Intrauterine growth retardation, Primary microcephaly, Simplified gyral pattern, Liss... ORPHA:284417
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Kyphosis, Intrauterine growth retardation, Abnormality of the cervical spine, Long eye... ORPHA:48431
Mental Retardation, Buenos Aires Type
Hydrocephalus, Spastic gait, Low-set ears, Long eyelashes, Ptosis, Curly eyelashes, Microcephaly,... OMIM:249630
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Developmental And Epileptic Encephalopathy 64
Cerebellar hypoplasia, Inability to walk, Ventriculomegaly, Microcephaly, Cerebral cortical atrop... OMIM:618004
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Generalized-onset seizure... OMIM:618651
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum, Choreoathetosis, Intrauterine growth retardation, P... OMIM:618238
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Generalized myoclonic seizur... OMIM:605013
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short neck, Microtia, Microcephaly, Low-set, posteriorly rotated ears, Downslanted palpebral fiss... ORPHA:2994
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Ventriculomegaly, Microcephaly, Short stature, Abnormal periven... OMIM:614066
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Cerebellar malformation, Intrauterine growth retardation, Dilated fou... ORPHA:357058
Chromosome 1Q41-Q42 Deletion Syndrome
Upslanted palpebral fissure, Vertebral segmentation defect, Microtia, Microcephaly, Short stature... OMIM:612530
6Q25 Microdeletion Syndrome
Upslanted palpebral fissure, Agenesis of corpus callosum, Sensorineural hearing impairment, Ventr... ORPHA:251056
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Long eyelashes, Ventriculomegaly,... OMIM:618577
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Papillary Tumor Of The Pineal Region
Hearing abnormality, Cognitive impairment, Increased CSF protein, Memory impairment, Abnormal eye... ORPHA:251915
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Abnormality of retinal pigmentation, Microcephaly, Aqueductal stenos... ORPHA:1496
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Kyphosis, Sensorineural hearing impairment, Waddling gait, Generalized myocloni... ORPHA:464282
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Lissencephaly, Partial agenesis of the corpus... OMIM:616212
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Large earlobe, Absent tragus, Upslanted palpebral fissure, Underdev... ORPHA:79113
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Intrauterine growth retardation, Abnormal form of the vertebral bodies, Blepharoph... ORPHA:1327
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensation, Sensorineural... ORPHA:99947
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Ventri... ORPHA:2512
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Somatic sensory dysfunction, Incre... ORPHA:206448
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Shashi-Pena Syndrome
Kyphosis, Low-set ears, Ventriculomegaly, Ptosis, Highly arched eyebrow, Scoliosis, Posteriorly r... OMIM:617190
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Intellectual Developmental Disorder, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Inability to walk, Ventriculomega... OMIM:616362
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Sensorineural hearing impairment, Bilateral... ORPHA:488627
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Kyphosis, Cerebellar cyst, Hyperlordosis, Ventriculomegaly, Microcephaly, Sco... OMIM:606612
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Intrauterine growth retardation, Dilated fourth ... ORPHA:572798
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Telecanthus, Focal-onset seizure, Infantile spasms, Microcephaly, Downslanted ... OMIM:619616
Developmental And Epileptic Encephalopathy 59
Scoliosis, Inability to walk, Seizure, Ventriculomegaly OMIM:617904
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Agenesis of corpus callosum, Sensorineural hearing impairmen... OMIM:109120
Cornelia De Lange Syndrome 2
Cognitive impairment, Short neck, Intrauterine growth retardation, Long eyelashes, Thick eyebrow,... OMIM:300590
Hemifacial Atrophy, Progressive
Kyphosis, Microtia, Ataxia, Horner syndrome, Blepharophimosis, Seizure OMIM:141300
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, Dementia, Abnormal autonomic nervous syst... ORPHA:97355
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Aganglionic megacolon, Ataxia, Ptosis, High... ORPHA:220497
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar hypoplasia, Inability to walk, Ataxia, Ventriculomegaly, Unsteady gait, Hypoplasia of ... OMIM:618273
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Upslanted palpebral fissure, Prominent eyelashes, Extra-axial cerebro... OMIM:619179
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Short palpebral fissure, Abnormal form of the vertebral bodies, Promin... ORPHA:2839
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Conductive hearing impairment, Caudal ap... ORPHA:314679
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Nasu-Hakola Disease
Cerebral calcification, Memory impairment, Ventriculomegaly, Cerebral cortical atrophy, Chorea, H... ORPHA:2770
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Retinal dystrophy, Macular atrophy OMIM:212550
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysmetria, Retrocerebellar cyst, Ventriculomegaly, Ptosis, Growth delay, Progressive cerebellar a... ORPHA:363429
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, Low-set ears, Conductive hearing impairment, Blepharophimosis, Ventricul... OMIM:255995
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Ptosis, Microcephaly, Simplified gyral pattern, Short stature, Telec... OMIM:616681
Ravine Syndrome
Apnea ORPHA:99852
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Coloboma Of Macula
Macular coloboma OMIM:120300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal sensory nerve conduction velocity, Impaired proprioception, Impaired vibration... ORPHA:88628
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Microcephaly, Scoliosis, Broad-based gait, Cortical dysplasia, Hypoplasia of th... ORPHA:457260
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Hyp... ORPHA:500144
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Ventriculomegaly, Unsteady gait, Microcephaly, Progressive cerebellar ataxia, Scoliosis, ... ORPHA:485350
Developmental And Epileptic Encephalopathy 1
Tonic seizure, Choreoathetosis, Generalized myoclonic seizure, Ventriculomegaly, Focal-onset seiz... OMIM:308350
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Retinal detachment, Retinal dysplasia, Microce... ORPHA:899
Slc35A2-Cdg
Microcephaly, Dandy-Walker malformation, Scoliosis, Cortical dysplasia, Dilation of lateral ventr... ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Hearing impai... OMIM:614946
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Gait di... ORPHA:99014
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Cognitive impairment, Abnormal caudate nucleus morphology, Generalized-onset seizure, Cer... ORPHA:2148
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Progressive microcephaly, Ven... OMIM:615851
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Intrauterine growth retardation, Microcephaly, Downsl... OMIM:612940
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Short neck, Agenesis of corpus callosum, Low-set ears, Sensorineural hear... OMIM:243310
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Abnormal location of ears, Ventri... OMIM:218350
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Low-set ears, Long eyelashes, Thick eyebrow, Ventriculomegaly, Synophrys, Horizontal eyebrow, Hyp... OMIM:618381
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Atonic seizure, Ventriculomegaly, Microcephaly, Pigmentary retinopathy, Short stature, Scoliosis,... OMIM:619059
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Short neck, Kyphosis, Low-set ears, Inability to walk, Ptosis, Paucity of anter... OMIM:611890
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Ventriculomegaly, Focal-onset seizure, Growth delay, Bilatera... OMIM:614483
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Kyphosis, Hyperintensity of cerebral white matter on MRI, Impaired pain sensati... ORPHA:500180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar cyst, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Hypoplasia of the pons, O... OMIM:613151
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, S... ORPHA:1931
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agang... ORPHA:2318
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Choreoathetosis, Ventriculomegaly, Microcephaly, Seizure OMIM:616034
Distal Monosomy 17Q
Upslanted palpebral fissure, Abnormal form of the vertebral bodies, Microtia, Microcephaly, Low-s... ORPHA:1597
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, Thick eyebrow, Sparse eyebrow, Ventriculomegaly, Ptosis, Macrotia, Epicanthus, ... OMIM:617268
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Pontocerebellar Hypoplasia, Type 10
Progressive microcephaly, Long eyelashes, Ventriculomegaly, Highly arched eyebrow, Growth delay, ... OMIM:615803
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral ... ORPHA:401820
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Low-set ears, Hydrocephalus, Epicanthus, Kyphoscoliosis, Abnormal cerebral white matter morphology OMIM:600991
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Seizure, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Athetosis, Ventriculomegaly, Gait disturbance, Scoliosis, ... OMIM:618241
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertension, Neonata... OMIM:265120
Fanconi Anemia, Complementation Group I
Colpocephaly, Short neck, Agenesis of corpus callosum, Intrauterine growth retardation, Conductiv... OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 65
Upslanted palpebral fissure, Agenesis of corpus callosum, Low-set ears, Thin eyebrow, Ataxia, Dys... OMIM:619320
Sub-Cortical Nodular Heterotopia
Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal cerebral cortex morpholog... ORPHA:101029
Leukoencephalopathy, Cystic, Without Megalencephaly
Cerebral calcification, Sensorineural hearing impairment, Athetosis, Ventriculomegaly, Ataxia, Mi... OMIM:612951
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Low-set ears, Microtia, Ptosis, Microcephaly OMIM:617564
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Thick eyebrow, Optic nerve hypoplasia, Ventriculomegaly, Seizure, Ag... ORPHA:228384
Krabbe Disease
Increased CSF protein, Motor deterioration, Decreased nerve conduction velocity, Diffuse cerebral... OMIM:245200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Joubert Syndrome 3
Low-set ears, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Molar tooth sign on... OMIM:608629
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Sjögren-Larsson Syndrome
Retinopathy, Kyphosis, Abnormality of retinal pigmentation, Microcephaly, Scoliosis, Spasticity, ... ORPHA:816
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Cerebellar hypoplasia, Ventriculomegaly, Progressive neurologic ... OMIM:618253
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Ventriculomegaly, Ptosis, Dandy-Walker malformation,... OMIM:617622
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Microtia, Microcephaly, Short stature, Sparse eyelashes, Scoliosis, Abnormal basa... ORPHA:370079
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Myelomeningocele, Agenesis of corpus callosum, Ventriculomegaly, Ata... ORPHA:1136
Apnea, Central Sleep
Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Long eyelashes, Ventriculomegaly, Gait disturbance, Short stat... OMIM:609757
Coach Syndrome 2
Chorioretinal coloboma, Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Cere... OMIM:619111
Diabetic Embryopathy
Abnormal sacrum morphology, Aplasia/Hypoplasia of the corpus callosum, Microtia, Microcephaly, Sp... ORPHA:1926
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Christianson Syndrome
Cerebellar atrophy, Generalized-onset seizure, Aplasia/Hypoplasia of the corpus callosum, Thick e... ORPHA:85278
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Pericallosal lipoma, Microtia, Microcephaly, Limbal dermoid, Scoli... ORPHA:398156
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aplasia/Hypoplasia of the corpus callosum, Leukoencephalopathy, Ventriculomegaly, Abnormal verteb... ORPHA:88639
Intellectual Developmental Disorder, Autosomal Dominant 57
Upslanted palpebral fissure, Kyphosis, Blepharophimosis, Ptosis, Microcephaly, Short stature, Sco... OMIM:618050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Cerebellar atrophy, Agenesis of corpus callosum, Optic nerve hypoplas... OMIM:614833
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Seizure, Unsteady gait, Microcephaly, Partial agenesis of the corpus callosum, Epicanthus... OMIM:245349
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Retinal degeneration, Increased CSF protein, Hypoplastic ve... OMIM:272200
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Cognitive impairment, Abnormality of the basal ganglia, Abnormal cau... ORPHA:25
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Short neck, Agenesis of corpus callosum, Low-set ears, Parietal cortical atrophy, Seizure, Microc... OMIM:618766
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Chromosome 6Q24-Q25 Deletion Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Cupped ear, Probst bundles, Agenesis of cor... OMIM:612863
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Gait di... ORPHA:101075
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Stridor, Bronchospasm, Cardiorespiratory arrest, Apnea OMIM:608800
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Retinal degeneration, Agenesis of corpus callosum, Mental deterioration, Impaired v... OMIM:604360
Pierpont Syndrome
Abnormal cortical gyration, Uplifted earlobe, Short neck, Chiari malformation, Ventriculomegaly, ... ORPHA:487825