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Gene: Dscam MGI:1196281

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Dscam (0 diseases)
Human diseases predicted to be associated with Dscam (2222 diseases)

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	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Pulmonary Disease, Chronic Obstructive	Chronic pulmonary obstruction	OMIM:606963
Asthma, Susceptibility To	Asthma, Airway hyperresponsiveness, Bronchoconstriction	OMIM:600807
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Cere...	OMIM:604213
Lissencephaly 4	Short stature, Simplified gyral pattern, Growth delay, Seizure, Colpocephaly, Lissencephaly, Cere...	OMIM:614019
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leukoencephalopathy With Vanishing White Matter 5	Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ...	OMIM:620315
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern,...	OMIM:608716
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Spastic Paraplegia 88, Autosomal Dominant	Agenesis of cerebellar vermis, Unsteady gait, Sensory ataxia, Distal sensory impairment, Hypoplas...	OMIM:620106
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern,...	OMIM:619244
Congenital Hydrocephalus	Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair...	ORPHA:2185
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus c...	OMIM:620317
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Seizure, Chorioretinal coloboma, Olivopontocerebellar atrophy, Cerebral co...	ORPHA:2732
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a...	ORPHA:488635
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Seizure, Attention deficit hyperactivity...	OMIM:618709
Pineocytoma	Abnormal eyelid morphology, Hearing abnormality, Hydrocephalus, Cognitive impairment, Difficulty ...	ORPHA:251912
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Hypoplasia of the pons, Cortical dysplasia, Abnormal caudate nucleus morphology, ...	ORPHA:300573
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Non-convulsive status epilepticus without coma, Sparse eyelashes, ...	ORPHA:544488
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo...	ORPHA:250972
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Infantile spasms, Cortical dy...	OMIM:615763
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Agyria, Bilateral tonic-clonic seizure, Microcephaly, Seizu...	OMIM:611603
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Bilateral ptosis, General...	OMIM:619701
Masa Syndrome	Short stature, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Shuffling gait, Agenesis of ...	OMIM:303350
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Scissor gait, Seizure, Lateral ventricle dilatation, Dilated third vent...	ORPHA:363654
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ataxia, Microcephaly, Inability to walk, Upslanted palpebral fissure, Seizure, Hypoplasia of the ...	OMIM:616486
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo...	OMIM:616540
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Sparse eyebrow, Seizure, Downslanted palpebral fissures, Attention deficit hypera...	OMIM:618286
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Subretinal deposits, Abnormal optic disc m...	ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic at...	OMIM:613154
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Generalized-onset seizure, Infantile spasms, Hypoplasia of the pons, Myocl...	OMIM:618677
Alg13-Cdg	Abnormal lateral ventricle morphology, Infantile spasms, Cognitive impairment	ORPHA:324422
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Hypotonia, Ventriculomegaly	OMIM:614830
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea	OMIM:615228
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Megalencephaly, Diffuse white m...	OMIM:613925
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal...	ORPHA:599373
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Seizure, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypop...	ORPHA:2703
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Microcephaly, Abnormal neuron morphology, Abnormal cerebellum morphology, Simplified gyral patter...	ORPHA:329228
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Seizure, Microti...	ORPHA:939
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Aicardi Syndrome	Cerebellar vermis hypoplasia, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hem...	OMIM:304050
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microcephaly 17, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Seizure, Hypoplasia of the brainstem...	OMIM:617090
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Short neck, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large ea...	OMIM:619955
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Microcephaly, Thin corpus callosum, Status epilepticus, Scoliosis...	OMIM:620200
Unilateral Hemispheric Polymicrogyria	Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo...	ORPHA:101071
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Aplasia/Hypoplasia of the...	ORPHA:168486
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Masa Syndrome	Gait disturbance, Short stature, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Seizure, Hypoplasia of the corpus callosum, Polymicrogyria, Ve...	OMIM:615937
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Short stature, Reduced cerebral white matter volume, Infantile spasms, Inability to walk,...	OMIM:618174
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age...	OMIM:619302
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Polymicrogyri...	OMIM:600348
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	ORPHA:171680
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Increas...	OMIM:616034
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Hypoplasia o...	OMIM:615574
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Generalized-onset seizure, Unilateral polymicrogyria, Infantile spa...	OMIM:610031
Developmental And Epileptic Encephalopathy 36	Infantile spasms, Microcephaly, Tonic seizure, Hydrocephalus, Optic atrophy, Cerebral atrophy, My...	OMIM:300884
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Microcephaly, Sparse eyebrow, Kyphosis, Inability to walk, Cerebral atrophy, Seizure,...	ORPHA:464738
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc...	ORPHA:73256
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Cerebral...	OMIM:618730
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Weiss-Kruszka Syndrome	Epicanthus, Horizontal crus of helix, Highly arched eyebrow, Hearing impairment, Cupped ear, Prot...	OMIM:618619
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Retinal dystr...	OMIM:608629
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Myoclonus, Attention deficit hypera...	OMIM:619725
Fried Syndrome	Hydrocephalus, Hypotonia, Spastic diplegia, Abnormal optic nerve morphology, Scoliosis	ORPHA:85335
Hydrocephalus, Congenital, 1	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:236600
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Autosomal Recessive Spastic Paraplegia Type 66	Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ...	ORPHA:401815
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Synophrys, Lobar holopros...	OMIM:609637
Porencephaly	Seizure, Porencephalic cyst, Ventriculomegaly	ORPHA:2940
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Short stature, Microcephaly, Kyphosi...	ORPHA:500055
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Short neck, Hydrocephalus, Synophrys, Cereb...	OMIM:620156
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Tonic seizure, Retinal pigment epithelial mottling, Partial agenesis of the corpus ...	OMIM:619517
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Hypoplasia of the brains...	OMIM:607432
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Seizure, Hydrocephalus, Cognitive impairment	ORPHA:2807
Polymicrogyria, Bilateral Temporooccipital	Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei...	OMIM:612691
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Gómez-López-Hernández Syndrome	Telecanthus, Cerebellar vermis hypoplasia, Ataxia, Short stature, Impaired pain sensation, Abnorm...	ORPHA:1532
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Cerebellar hypoplasia, Low-set ears, Intrauterine growth retardation, Agenesis of c...	OMIM:616570
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Seizure, Progressive microcep...	OMIM:613402
Pyruvate Dehydrogenase E1-Alpha Deficiency	Partial agenesis of the corpus callosum, Cerebellar gliosis, Abnormal CSF pyruvate family amino a...	ORPHA:79243
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Latera...	OMIM:618736
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Developmental And Epileptic Encephalopathy 31B	Multifocal seizures, Reduced cerebral white matter volume, Infantile spasms, Almond-shaped palpeb...	OMIM:620352
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Leukoencephalopathy, Lateral ventricle dilatation, Dementia, Progress...	OMIM:615889
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Short stature, Cerebral white matter hypoplasia, Microcephaly, Synophrys, Aplasia/Hypoplasia of t...	ORPHA:3207
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli...	ORPHA:300570
Atypical Teratoid Rhabdoid Tumor	Seizure, Hydrocephalus, Cerebral calcification, Ataxia	ORPHA:99966
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Bilateral tonic-clonic seizure, ...	OMIM:615362
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Seiz...	OMIM:304100
Peroxisome Biogenesis Disorder 6A (Zellweger)	Seizure, Colpocephaly, Pachygyria, Low-set ears	OMIM:614870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons,...	OMIM:613153
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Optic atrophy, Gait ataxia, Seizure, Ventriculomegaly	OMIM:619323
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Upslanted palpebral fissure, Abnormal cerebral white...	OMIM:613443
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Infantile spasms, Microcephaly, Protruding ear, Seizure, Colpocephaly, Ce...	OMIM:618731
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal en...	ORPHA:1528
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu...	ORPHA:77299
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy, Hypotonia	ORPHA:26
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea	OMIM:610992
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Gait ataxia,...	OMIM:617862
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Short stature, Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral patter...	OMIM:618492
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Ataxia, Short stature, Retinal ar...	ORPHA:644
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Abnormal cor...	ORPHA:2524
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Inability to walk, Sensorineural he...	OMIM:617854
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Thick eyebrow, Ataxia, Short stature, Posterio...	OMIM:619833
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Kyphosis, Optic atrophy, Distal sensory impairment, Difficulty walking, Scoliosis	OMIM:617087
Cach Syndrome	Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ...	ORPHA:135
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Cerebellar vermis hypoplasia, Highly arched eyebrow, Partial agenesis of the corpu...	OMIM:619775
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Infantile spasms, Microcephaly, Tonic seizure, Focal motor seizure, Myocl...	OMIM:618890
Microlissencephaly	Cerebellar atrophy, Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset,...	ORPHA:1083
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Microcephaly, Syno...	OMIM:617751
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Cerebral atrophy, Leukoencephalopathy, Frontal lobe...	OMIM:221770
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Abnormality of the ear	OMIM:600257
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Microcephaly, Inability to walk, Myoclonic seizure, Upslanted pal...	OMIM:615716
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Alobar holoprosencephaly, Kyphosis, Seizure, Downslanted palpebral fissures, Attentio...	OMIM:615433
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Ataxia, Abnormal cerebrospinal fluid morphology, Sensorineural hearing impair...	ORPHA:314404
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Sensorineural...	OMIM:615219
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Conductive hearing impairment...	ORPHA:85179
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Ataxia, Cerebral calcification, Kyphosis, Hydrocephalus, Fo...	OMIM:618476
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Motor seizure, Infantile spasms, Seizure, Pachygyria, Agyria, Ventricul...	ORPHA:1084
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Epicanthus, Generalized-onset seizure, Hypoesthe...	OMIM:619737
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Hydrocephalus, Seizure, Memory impairment, Hearing impairment	ORPHA:1008
Homocarnosinosis	Abnormality of retinal pigmentation	OMIM:236130
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Epicanthus, Infantile spasms, Microcephaly, Seizure,...	ORPHA:79326
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Focal...	OMIM:617904
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Microcephaly 19, Primary, Autosomal Recessive	Microcephaly, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Hypoplasia ...	OMIM:617800
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Short stature, Macular atrophy, Microc...	OMIM:616171
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Optic a...	OMIM:615191
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Epicanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Dysplastic corpus callosum, Cere...	OMIM:616900
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Abnormal cerebellum morphol...	ORPHA:565624
X-Linked Neurodegenerative Syndrome, Bertini Type	Generalized myoclonic seizure, Macular degeneration, Agenesis of corpus callosum, Ataxia	ORPHA:85334
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Limb ataxia, Hypopl...	OMIM:607596
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o...	ORPHA:370959
Bowen-Conradi Syndrome	Short stature, Microcephaly, Severe postnatal growth retardation, Seizure, Severe intrauterine gr...	ORPHA:1270
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Seizure, ...	OMIM:619470
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Short stature, Hydrocephalus, Sensorineural hearing impairment, Chiari type...	OMIM:619575
Succinic Acidemia	Respiratory distress	OMIM:600335
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Cerebral dys...	ORPHA:101070
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Micro...	ORPHA:208447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Agyria, Remnants of the hyaloid vascular system, Optic nerve h...	OMIM:614643
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Seizure, Lateral ventricle dilatation, Hypoplasia of th...	ORPHA:420179
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormal ear morphology, Dysplastic corpus callosum, Growth delay, Seizure, Primary microcephaly	OMIM:618010
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the brainstem, Cerebellar hypoplasi...	OMIM:618266
Paganini-Miozzo Syndrome	Posteriorly rotated ears, Lateral ventricle dilatation, Microtia, Low-set ears, Febrile seizure (...	OMIM:301025
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Postnatal growth retardation, Optic atrophy, Choreoat...	ORPHA:391417
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Epicanthus, Telecanthus, Short stature, Decreased response to growth hormone stimulation test, Mi...	OMIM:615286
Cerebral Palsy, Spastic Quadriplegic, 2	Cerebral atrophy, Ventriculomegaly	OMIM:612900
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Baraitser-Winter Syndrome 2	Telecanthus, Short stature, Abnormal pinna morphology, Highly arched eyebrow, Short neck, Hearing...	OMIM:614583
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation	ORPHA:166063
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Short stature, Microcephaly, Seizure, Cognitive impairment, ...	ORPHA:2515
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Protruding ear, Retrocerebellar cys...	OMIM:614219
Multiple Mitochondrial Dysfunctions Syndrome 5	Microcephaly, Growth delay, Pigmentary retinopathy, Seizure, Pachygyria, Ventriculomegaly	OMIM:617613
Pontocerebellar Hypoplasia, Type 13	Epicanthus, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk...	OMIM:618606
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hypoplasia of the brainstem, Retinal dysplasia, Pachygyria, Agenesis of ...	OMIM:236670
20P12.3 Microdeletion Syndrome	Epicanthus, Short stature, Seizure, Microtia, Thickened helices, Downslanted palpebral fissures, ...	ORPHA:261295
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my...	OMIM:266100
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Short stature, Kyphoscoliosis, Microcepha...	OMIM:600118
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Sacral dimple, Ataxia, Short stature, Highly arched eyebrow, Short neck, Microcephaly, Inability ...	ORPHA:505237
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Epileptic spasm, Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, H...	OMIM:617669
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	ORPHA:324416
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Retinal dystrophy, Ataxia, Short stature, ...	OMIM:616756
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Abn...	ORPHA:216866
Peho-Like Syndrome	Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure, Optic atrophy, Progressive microc...	OMIM:617507
Vitamin K Antagonist Embryofetopathy	Short neck, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Optic atrophy, Se...	ORPHA:1914
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis, Reduced cerebral white matter volume, Corpus callosum atrophy, Unsteady gait, Sei...	OMIM:301107
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Generalize...	ORPHA:357058
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Cerebellar vermis hypoplasia, Cerebral calcification, Bilateral tonic-clonic seizu...	OMIM:617281
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Retinal d...	ORPHA:220493
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Microcephaly, Tonic seizure, Hydrocephalus, Sensorineural hearing impairme...	OMIM:615249
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus call...	OMIM:300067
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Foxg1 Syndrome	Optic disc hypoplasia, Short stature, Kyphoscoliosis, Bilateral tonic-clonic seizure, Infantile s...	ORPHA:561854
Even-Plus Syndrome	Severe short stature, Highly arched eyebrow, Short neck, Dysplastic corpus callosum, Synophrys, V...	OMIM:616854
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Martsolf Syndrome 2	Short stature, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Mac...	OMIM:619420
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy, Scoliosis	ORPHA:306669
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Ataxia, Periventricular cysts, Seizure, Hypoplasia of the brainstem...	ORPHA:255138
Intellectual Developmental Disorder, X-Linked 103	Seizure, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Abnormal cerebral w...	ORPHA:352682
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Short stature, Inability to walk, Unsteady gait, Thick corpus callo...	OMIM:618273
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Low-set, posteriorly rotated ears, Telecanthus, Short neck, Microcephal...	ORPHA:434179
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Microhydranencephaly	Short stature, Generalized myoclonic seizure, Microcephaly, Macrotia, Growth delay, Athetosis, Hy...	OMIM:605013
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Seizure...	OMIM:616362
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
4Q21 Microdeletion Syndrome	Hearing impairment, Short neck, Kyphosis, Synophrys, Growth delay, Seizure, Long eyelashes, Cereb...	ORPHA:238750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Seizure, Long eyelashes, Scoliosis, Hypoplasia of the corpus callosum, Agenesis of...	OMIM:618577
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Sensorineural hearing impairment, Lateral ventricle dilatation,...	OMIM:616602
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Cerebellar vermis hypoplasia, Short neck, Simplified gyral pattern, Seizure, Lat...	ORPHA:284417
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Inab...	ORPHA:2822
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Optic disc hypoplasia, Short stature, Bilateral tonic-clonic seizure, Mi...	ORPHA:238769
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Almond-shaped palpebral fissure, Partial agenesis of the corpus...	OMIM:616212
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Abnormal pinna morphology, Microcephaly, Optic atrophy, Severe postnata...	ORPHA:3078
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Short stature, Dysmetria, Retroc...	ORPHA:363429
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Microcephaly, Hy...	ORPHA:467166
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Posteriorly rotated ears, Seizure, Lumbar scoliosis, Low-set ears, Conjunctival hyper...	OMIM:619548
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Microcephaly, Hydrocephalus, Synophrys, Protruding ear, Narrow palpebral fiss...	OMIM:618302
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebell...	ORPHA:137831
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Kyphoscoliosis, Reduced cerebral white matter volume, Microcephaly, Inability to walk, Focal toni...	OMIM:617977
Papillary Tumor Of The Pineal Region	Abnormal eyelid morphology, Hearing abnormality, Hydrocephalus, Cognitive impairment, Difficulty ...	ORPHA:251915
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired temp...	ORPHA:99947
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Inability to walk, Optic atrophy, Athetosis, Seizure, Secondary microcephaly,...	OMIM:618241
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Increased CSF lactate, Choreoathetosis, Seizure, Scoliosis, Intra...	OMIM:618238
Macdermot-Winter Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Microcephaly, Seizure, Intrauterine growth retar...	OMIM:247990
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasi...	OMIM:225790
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor...	OMIM:617668
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Spasticity, Hydrocephalus	ORPHA:397951
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Abnormal pinna morphology, Microcep...	ORPHA:251056
Leukoencephalopathy With Vanishing White Matter 4	Corpus callosum atrophy, Unsteady gait, Optic atrophy, Leukoencephalopathy, Cerebral cortical atr...	OMIM:620314
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, CSF pleocytosis, ...	OMIM:603472
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, ...	OMIM:252650
Developmental And Epileptic Encephalopathy 97	Inability to walk, Seizure, Epileptic spasm, Ventriculomegaly	OMIM:619561
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Hydrocephalus, Seizure...	ORPHA:858
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Halperin-Birk Syndrome	Generalized-onset seizure, Hearing impairment, Focal-onset seizure, Inability to walk, Optic atro...	OMIM:618651
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea, Respiratory insufficiency	ORPHA:209370
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Chorea, Cerebellar ...	ORPHA:248111
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Vertebral segmentation defect, Cond...	OMIM:611209
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Ravine Syndrome	Apnea	ORPHA:99852
Hemimegalencephaly	Focal cortical dysplasia, Epileptic spasm, Abnormal neuron morphology, Optic atrophy, Focal motor...	ORPHA:99802
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Pigment...	ORPHA:370968
Cerebrofacioarticular Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Short stature, Microcephaly, Dysplastic corpus ...	ORPHA:314679
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Low-set ears, Molar tooth sign on MRI, Agenesis of corpus callosum,...	OMIM:617127
Autosomal Recessive Primary Microcephaly	Short stature, Microcephaly, Pachygyria, Upslanted palpebral fissure, Growth delay, Hypoplasia of...	ORPHA:2512
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Posteriorly rotated ears, Infantile spasms, Synophrys, Noncommunicating hydrocephalus, Up...	OMIM:619320
Coloboma Of Macula	Macular coloboma	OMIM:120300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Microcephaly, Inability to walk, Chorea, Cerebral atrophy, M...	OMIM:614254
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Microce...	OMIM:619606
Hemifacial Atrophy, Progressive	Ataxia, Kyphosis, Horner syndrome, Seizure, Microtia, Blepharophimosis	OMIM:141300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Kyphosis, Impaired vibration...	ORPHA:88628
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Inability to walk, Seizure, Gait disturbance, Hypoplasia of the corpus callosum, Scoliosis	OMIM:611225
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Kyphosis, Perisylvian pol...	OMIM:618291
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Inability to walk, Optic atrophy, Seizure, Periventricular leukomalacia, Agen...	OMIM:618324
Global Developmental Delay With Or Without Impaired Intellectual Development	Long palpebral fissure, Lateral ventricle dilatation, Short stature, Low-set ears	OMIM:618330
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Short stature, Posteriorly rotated ears, Postnatal growth retardat...	OMIM:620113
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Microcephaly, Dysplastic corpus callosum, Prominent eyelashes, Simplified gyral pa...	OMIM:619179
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Seizure, Holoprosencephaly, Agenesi...	ORPHA:2182
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Intellectual Developmental Disorder, Autosomal Recessive 46	Epicanthus, Short stature, Ataxia, Synophrys, Protruding ear, Growth delay, Seizure, Ventriculome...	OMIM:616116
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo...	ORPHA:488627
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglion...	ORPHA:220497
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Short stature, Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hea...	OMIM:109120
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Multifocal se...	ORPHA:572798
Intellectual Developmental Disorder, Autosomal Recessive 69	Ataxia, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:618383
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, S...	ORPHA:272
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Microcephaly, Aqueductal stenosis, Seizure, Agenesis of corp...	ORPHA:1496
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Inability to walk, H...	OMIM:613155
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Palatal tremor, Hydrocephalus, Abnormal thalamic MRI signal intensity...	ORPHA:363717
Rasmussen Subacute Encephalitis	Abnormal cerebrospinal fluid morphology, Subcortical cerebral atrophy, Bilateral tonic-clonic sei...	ORPHA:1929
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Kyphosis, Optic atrophy, Gait disturbance, Scoliosis, Abnormal n...	ORPHA:99014
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Abnormal cerebellum morphology, Distal sensory impairment, Lateral ventricle dilata...	OMIM:256850
Pontocerebellar Hypoplasia, Type 16	Hypoplasia of the pons, Optic atrophy, Thin corpus callosum, Seizure, Cerebellar hypoplasia, Scol...	OMIM:619527
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Unsteady gait, Gait ataxia, Seizure, Microtia, Periventricular white matter hyperintensities	OMIM:618158
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, ...	ORPHA:500144
Walker-Warburg Syndrome	Chorioretinal dysplasia, Protruding ear, Abnormal optic nerve morphology, Retinal dysplasia, Pach...	ORPHA:899
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Microcephaly, Abnormality of the auditory canal, Kyphosis, Cortical...	ORPHA:319199
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Cerebral atrophy, Myoc...	OMIM:226750
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Optic atrophy, ...	OMIM:616680
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Partial agenesis of the corpus callosum, Synophrys, Upslanted palpebral fissure, Seiz...	OMIM:620250
Developmental And Epileptic Encephalopathy 61	Apnea	OMIM:617933
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology, Seizure, Chiari malformat...	ORPHA:171839
Craniofacial Dyssynostosis With Short Stature	Short stature, Hydrocephalus, Abnormal location of ears, Chiari type I malformation, Seizure, Hyp...	OMIM:218350
Developmental And Epileptic Encephalopathy 70	Epileptic spasm, Microcephaly, Tonic seizure, Seizure, Low-set ears, Scoliosis, Cerebral cortical...	OMIM:618298
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Short attention span, Probst bundles, Hooded eyelid, Sparse eyelas...	OMIM:612863
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum,...	OMIM:620001
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Ptosis	OMIM:619972
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Ataxia, Microcephaly, Sensorineural hearing impairment, Leukoencephalopat...	OMIM:612951
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Respiratory insufficiency	OMIM:300673
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis	OMIM:236660
Greig Cephalopolysyndactyly Syndrome	Seizure, Hydrocephalus, Agenesis of corpus callosum, Telecanthus	ORPHA:380
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Kyphoscoliosis, Microcephaly, Facial diplegia, Abnormal cerebral white matter...	ORPHA:370980
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Epicanthus, Kyphoscoliosis, Reduced cerebral white matter volume, Sparse eyebrow, Tonic seizure, ...	OMIM:620075
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Si...	OMIM:619301
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Focal motor status epilepticus, Microcephaly, Focal-onset seizure, Chorea, Seizure, Falls...	OMIM:619150
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Microcephaly, Optic atrophy, Protruding ear, Growth delay, Seizure, Hypoplasia of ...	ORPHA:1495
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, ...	ORPHA:2148
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Ataxia-Deafness-Intellectual Disability Syndrome	Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Scoliosis, Aplasia...	ORPHA:1188
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Posteriorly rotated ears, Hydrocepha...	ORPHA:163961
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Toriello-Carey Syndrome	Short neck, Partial agenesis of the corpus callosum, Anotia, Thickened helices, Aplasia/Hypoplasi...	ORPHA:3338
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agen...	ORPHA:166024
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Chorioretinal coloboma, Molar tooth sign on MRI, Age...	OMIM:619111
Baraitser-Winter Syndrome 1	Epicanthus, Short stature, Highly arched eyebrow, Short neck, Microcephaly, Postnatal growth reta...	OMIM:243310
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Short stature, Abnormal midbrain morphology, I...	ORPHA:356961
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve conduction...	ORPHA:101075
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Basal ganglia cysts, Seiz...	OMIM:312170
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic plei...	OMIM:610333
Joubert Syndrome 33	Apnea	OMIM:617767
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Sacral dimple, Short stature, Short neck, Hydrocephalus, Hypoplasia of the corpus cal...	ORPHA:1516
Femoral-Facial Syndrome	Short stature, Abnormal sacrum morphology, Aplasia/Hypoplasia of the corpus callosum, Upslanted p...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Hypotonia, Dandy-Walker malformation	OMIM:607091
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Epicanthus, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Unsteady gait, Optic a...	OMIM:245349
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Short stature, Kyphosis, Dysmetria, Long eyelashes, Paresthesia, Abnormality of periphera...	ORPHA:48431
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Gait atax...	OMIM:300148
Pelvis-Shoulder Dysplasia	Waddling gait, Lumbar hyperlordosis, Short stature, Abnormal pinna morphology, Spina bifida, Meso...	ORPHA:2839
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Short stature, Decreased response to growth hormone stimulation tes...	OMIM:609757
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Benign Familial Neonatal-Infantile Seizures	Apnea	ORPHA:140927
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Epicanthus, Telecanthus, Decreased response to growth hormone stimulation test,...	OMIM:617260
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Epicanthus, Short stature, Microcephaly, Upslanted palpebral fissure, Microtia, Scoliosis, Conduc...	OMIM:248910
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im...	OMIM:604360
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Cerebellar vermis hypoplasia, Generalized-onset seizure, Reduced cerebral white...	OMIM:617807
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Cerebral dysmyelination, Hypoplasia of the pons, Perisy...	OMIM:606854
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Epicanthus, Periventricular leukomalacia, Ataxia, Short stature, Infantile sp...	OMIM:618547
Pontocerebellar Hypoplasia, Type 9	Abnormal pinna morphology, Hypoplasia of the pons, Optic atrophy, Seizure, Secondary microcephaly...	OMIM:615809
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Short stature, Microcephaly, Hypoplasia of the pons, Inability to walk,...	OMIM:617695
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Sho...	OMIM:609053
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Optic atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormal autonomic nervous system p...	OMIM:610743
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Short neck, Optic atrophy, Seizure, Low-set ears, Parietal cortical atrophy, Fronta...	OMIM:618766
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Seizure, Myoclonus, Atypical absence...	OMIM:617391
Bonnemann-Meinecke-Reich Syndrome	Cerebral calcification, Short stature, Decreased response to growth hormone stimulation test, Mic...	ORPHA:1261
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Death in childhood	OMIM:618225
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Increased CSF protein concentration, Decreased nerve c...	OMIM:218000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Sacral dimple, Shor...	ORPHA:1327
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea, Respiratory insufficiency	OMIM:617290
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy	ORPHA:500545
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Megalencephaly, Hydrocephalus, Large earlobe, Seizure, Cavum septum pellucidum, Polym...	OMIM:602501
Perching Syndrome	Respiratory distress	OMIM:617055
Clcn4-Related X-Linked Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Unsteady gait, Generalize...	ORPHA:485350
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microcephaly, Sparse eyebrow, Upslanted palpebral fissure, Seizure, Vertebral segm...	OMIM:612530
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr...	OMIM:301043
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Short stature, Sparse eyebrow, Hydrocephalus, Seizure, ...	ORPHA:459061
Cornelia De Lange Syndrome 2	Thick eyebrow, Short stature, Highly arched eyebrow, Short neck, Microcephaly, Postnatal growth r...	OMIM:300590
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Infantile spasms, Kyphosis, Cerebral atrophy, Seizure, Scoliosis, Long palpeb...	OMIM:619797
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos...	OMIM:614833
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Kyphosis, Hypotonia, Spastic diplegia, Macular degeneration,...	ORPHA:816
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Microcephaly, Seizure, Intrauterine growth retardation, Ventriculomegaly	ORPHA:1980
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Benign Familial Neonatal Epilepsy	Apnea	ORPHA:1949
Mitochondrial Complex I Deficiency, Nuclear Type 13	Death in infancy, Apnea	OMIM:618235
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Gait disturbance,...	ORPHA:101078
Krabbe Disease	Axial hypotonia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Hypotonia, Hy...	OMIM:245200
Mitochondrial Complex I Deficiency, Nuclear Type 31	Progressive neurologic deterioration, Sensorineural hearing impairment, Dysmetria, Seizure, Myocl...	OMIM:618251
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Short stature, Absent tragus, Overfolded helix, Upslanted palpebral fiss...	ORPHA:79113
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Enlarged sylvian cistern, Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Microcep...	OMIM:619616
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Seizure, Abnormal dentate nucleus morphology, Palatal tremor, I...	OMIM:203450
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Microcephaly, Kyphosis, Chorea, Inability to walk, Cerebral atrophy, Gai...	ORPHA:500180
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Bifid thoracic vertebrae, Eyelid coloboma, Anotia, Microtia, Atresia of the extern...	ORPHA:268249
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Respiratory insufficiency	OMIM:618198
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalo...	OMIM:615181
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Kyphosis, Protruding ear, Upslanted palpebral fiss...	ORPHA:261250
Fg Syndrome Type 1	Sacral dimple, Broad-based gait, Short stature, Optic nerve hypoplasia, Abnormal cerebellum morph...	ORPHA:93932
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ga...	OMIM:304340
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Microcephaly, Abnormal retinal vasc...	ORPHA:2994
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Short stature, Bilateral tonic-clonic seizure, Microcephaly, Hydrocephalus,...	OMIM:300558
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Subependymal ...	OMIM:600721
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Microtia, Age...	ORPHA:3301
Diencephalic Syndrome	Hydrocephalus, Optic atrophy	ORPHA:1672
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Broad-based gait, Ataxia, Seizure, Dementia, Ventriculomegaly	OMIM:206570
Microcephaly 6, Primary, Autosomal Recessive	Small cerebral cortex, Microtia, Seizure, Microcephaly	OMIM:608393
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO	OMIM:616414
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Short stature, Poste...	ORPHA:263487
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Cereb...	OMIM:617493
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Microcephaly, Optic atrophy, Retrocerebellar cyst...	OMIM:617255
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Dystonia 1, Torsion, Autosomal Dominant	Facial palsy, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis, Abnormal posturing	OMIM:128100
Joubert Syndrome 14	Encephalocele, Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, H...	OMIM:614424
1Q21.1 Microduplication Syndrome	Seizure, Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:250994
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Impaired vibration sensation in the lower lim...	OMIM:610245
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Microcephaly, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Hypo...	OMIM:614105
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Spinal rigidity, Hy...	OMIM:253800
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Short stature, Highly arched eyebrow, Scoliosis, Chronic otiti...	ORPHA:1388
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ataxia, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior bea...	OMIM:230650
Sandhoff Disease	Kyphosis, Cherry red spot of the macula, Ataxia	ORPHA:796
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Chorea, Frontal lobe dementia, Seizure, Memory impairment,...	ORPHA:2770
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1568
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration	OMIM:608800
Temtamy Syndrome	Highly arched eyebrow, Thick corpus callosum, Agenesis of corpus callosum, Seizure, Chorioretinal...	OMIM:218340
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Chiari type I malformation, Seizure, Cognitive impairment, Hypoplasi...	OMIM:613735
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Epicanthus, Short stature, Bilateral tonic-clonic seizure with generalized on...	OMIM:615851
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Short stature, Highly arched eyebrow, Mi...	OMIM:620083
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Retinal d...	ORPHA:2318
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Myasthenic Syndrome, Congenital, 25, Presynaptic	Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscle action potential ...	OMIM:618323
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Growth delay, Seizure, Agenesis of corpus callosum	OMIM:274270
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Hearing impairment, Partial agenesis of the corpus callosum, Retina...	OMIM:619074
Houge-Janssens Syndrome 1	Multifocal seizures, Hydrocephalus, Gait ataxia, Seizure, Scoliosis, Intrauterine growth retardat...	OMIM:616355
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Short neck, Seizure, Microtia, Blepharophimosis, Ptosis	ORPHA:1703
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Focal tonic seizure, Seizure, Myoclonus, Frontal cortical atrophy, Ventriculomegaly	OMIM:300699
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Increased CSF...	OMIM:619059
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Seizure, Agenesis of corpus callosum, Downslanted palpebral fissures, Ventriculome...	OMIM:175700
Trisomy 5P	Short stature, Protruding ear, Scoliosis, Ventriculomegaly, Ptosis	ORPHA:1742
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Ataxia, Hypoplasia of the pons, Hydrocephalus, Synophrys, Optic atrophy, Cerebral atr...	OMIM:614969
Congenital Myopathy 11	Neonatal respiratory distress, Apneic episodes in infancy	OMIM:619967
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Sacral dimple, Aganglionic megacolon, Megalencephaly, Microcephaly, Hydrocephalus, Na...	OMIM:613603
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Athetosis, Seizure, Cerebellar hypoplasia, Intrauterine growth retard...	OMIM:619922
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Microcephaly, Abnormal sacrum morphology, Hydrocephalus, Spina...	ORPHA:1926
Distal Deletion 10Q	Protruding ear, Cavum septum pellucidum, Spina bifida occulta, Lumbar hyperlordosis, Ataxia, Shor...	ORPHA:96148
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Telecanthus, Epicanthus, Thick eyebrow, Generalized-onset seizure, Sparse eyebrow, Cerebral atrop...	OMIM:617268
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Epicanthus, Ventriculomegaly, Posteriorly rotated ears, Microcephaly, Simplified gyral pattern, C...	OMIM:615760
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Cerebral white matter atrophy, Retinal dystrophy, Ataxia, Short stature, Microceph...	ORPHA:464282
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven...	ORPHA:2257
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Nocturnal seizures, Seizure, Myoclonus, Scoliosis, Ventriculomegaly, Generalized clonic s...	OMIM:619229
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Seizure, Hypothalamic hamartoma, Attention deficit hyperac...	ORPHA:649929
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Kyphosis, Sensorineural hearing impairment, Seizure, Scoliosis, Cognitive impairment	ORPHA:2744
Glutamine Deficiency, Congenital	Neonatal death, Neonatal respiratory distress, Apnea	OMIM:610015
Myoclonus, Intractable, Neonatal	Apnea	OMIM:617235
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric...	OMIM:300770
Wilson-Turner Syndrome	Short stature, Uplifted earlobe, Seizure, Microtia, Thick eyebrow	ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hypopl...	OMIM:620157
Jaberi-Elahi Syndrome	Broad-based gait, Sparse eyelashes, Bilateral tonic-clonic seizure, Microcephaly, Sparse eyebrow,...	OMIM:617988
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, T2 hypointense basal ganglia, Infanti...	ORPHA:25
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea	OMIM:616896
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Short stature, Microcephaly, Inability to walk, Seizure, Hypoplasia of the corpus ...	OMIM:614066
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Kyphosis, Synophrys, Protruding...	ORPHA:85317
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus callosum, Seizure, Hypo...	OMIM:603387
2Q24 Microdeletion Syndrome	Central apnea	ORPHA:1617
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Seizure, Hypoplasia of the corpus callosum, Ag...	OMIM:618603
Pontocerebellar Hypoplasia, Type 6	Apnea, Death in childhood	OMIM:611523
Christianson Syndrome	Cerebellar atrophy, Ventriculomegaly, Generalized-onset seizure, Microcephaly, Gait ataxia, Aplas...	ORPHA:85278
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Optic atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia	OMIM:618237
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Upslanted palpebral fiss...	ORPHA:228384
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Short stature, Microcephaly, Protruding ear, Seizure, Scoliosis, Agenesis of corpus callosum, Cer...	ORPHA:2508
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Sparse eyelashes, Short stature, Microcephaly, Spars...	ORPHA:370079
Pierpont Syndrome	Telecanthus, Posteriorly rotated ears, Abnormal cortical gyration, Uplifted earlobe, Short neck, ...	ORPHA:487825
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Inability to walk, Large fleshy ears, Seizure, Cerebellar hypoplasia, Atten...	OMIM:619556
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea, Respiratory insufficiency	OMIM:618228
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Seizure, Gait disturbance, Holoprosencephaly, Cognitiv...	ORPHA:588
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Facial palsy, Hyperlordosis, Microcephaly, Inability to walk, Pigme...	OMIM:613156
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Short stature, Abnormal pinna morphology, Highly arched eyebrow, Short neck, Micro...	OMIM:617452
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Kyphoscoliosis, Progressive neurologic deterioratio...	OMIM:214150
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Microcephaly, Cortical dysplasia, Seizure, Scoliosis, Hypoplasia of the corpus ...	ORPHA:457260
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Short stature, Microcephaly, Macrotia, Gait apraxia, Optic atroph...	OMIM:617302
Bardet-Biedl Syndrome 16	Respiratory distress, Hypogonadism	OMIM:615993
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ventriculomegaly, Ataxia, Short stature, Hydrocephalus, Cerebral atrophy, Hyp...	OMIM:272200
Benign Familial Infantile Epilepsy	Apnea	ORPHA:306
Hyperekplexia 3	Respiratory arrest, Apnea	OMIM:614618
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Short stature, Microcephaly, Optic atrophy, Abnormal form of t...	ORPHA:1597
Oculoskeletodental Syndrome	Epicanthus, Short stature, Hyperlordosis, Dysplastic corpus callosum, Sensorineural hearing impai...	ORPHA:557003
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Synophrys, ...	OMIM:619512
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Pigmentary retinopathy, Hypotonia, Scoliosis	OMIM:618234
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Thickened helices, Underdeveloped antitragus, Choroid plexus cyst, Prom...	ORPHA:293725
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Short stature, Posteriorly rotated ears, Microcephaly, Seizure, Microtia, L...	OMIM:618089
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Apnea	OMIM:619048
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Microcephaly, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Ventriculomegaly, Cer...	OMIM:613151
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Ventriculomegaly, Cerebellar vermis hypoplasia, He...	ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Short stature, Abnormal pinna morphology, Kyphosis, Cortical dysplasia, Simplif...	OMIM:300354
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Death in infancy, Apnea, Central hypoventilation	OMIM:620167
Developmental And Epileptic Encephalopathy 64	Epicanthus, Thick eyebrow, Highly arched eyebrow, Microcephaly, Sparse eyebrow, Inability to walk...	OMIM:618004
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Abnormal retinal morphology	ORPHA:2786
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho...	OMIM:611890
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Epicanthus, Telecanthus, Thick eyebrow, Cerebellar vermis hypoplasia, Inability to walk, Optic at...	OMIM:619383
Catifa Syndrome	Epicanthus, Microtia, Gait disturbance, Attention deficit hyperactivity disorder	OMIM:618761
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Epicanthus, Ataxia, Microcephaly, Seizure, Status epilepticus, Scoliosis, Ven...	OMIM:611182
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Retinal dystrophy, Short stature, Highly ...	OMIM:615802
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Desmosterolosis	Pachygyria, Agenesis of corpus callosum, Low-set, posteriorly rotated ears, Absent septum pelluci...	ORPHA:35107
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Seizure, Platyspondyly, Disproport...	ORPHA:2655
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Brain Small Vessel Disease 2	Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephalic cyst, Growth d...	OMIM:614483
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly	OMIM:203740
Cdkl5-Deficiency Disorder	Infantile spasms, Impaired pain sensation, Kyphosis, Synophrys, Focal-onset seizure, Growth delay...	ORPHA:505652
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Posteriorly rotated ears, Short neck, Hydrocephalus, Sensorineural heari...	OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Abnorm...	OMIM:606612
Illum Syndrome	Apnea	OMIM:208155
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Pachygyria, Agenesis of corpus callosum, Athetosis, Seizure, Low-set e...	OMIM:614866
Huntington Disease-Like 1	Chorea, Dysmetria, Gait ataxia, Gait disturbance, Abnormal posturing	ORPHA:157941
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Posteriorly rotated ears, Kyphoscoliosis, Microcephaly, Cerebral atrophy...	ORPHA:447980
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea	ORPHA:320385
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, Cortical dysplasia, Pachygyria, Short stature, Low-set ears, Short palpeb...	OMIM:612513
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Kyphoscoliosis, Increased CSF lactate, Generalized hypotonia, ...	OMIM:618230
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Progressive neurologic deterioration, Infantile spasms, Leukoencephalopathy, Aplasia/...	ORPHA:88639
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Microcephaly, Focal-onset ...	ORPHA:395
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Li-Ghorbani-Weisz-Hubshman Syndrome	Epicanthus, Telecanthus, Upslanted palpebral fissure, Seizure, Attention deficit hyperactivity di...	OMIM:618974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Spinal rigidity, Microcephaly, Hydrocephalus, Partial absen...	OMIM:613150
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Megalencephaly, Hydrocephalus, Seizure, Polymicrogyria	ORPHA:83473
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Short stature, Decreased response ...	ORPHA:1855
Emanuel Syndrome	Hooded eyelid, Agenesis of corpus callosum, Dandy-Walker malformation, Abnormal cerebral white ma...	ORPHA:96170
Aymé-Gripp Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Short stature, Posteriorly rotated...	ORPHA:1272
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, ...	OMIM:207950
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Short stature, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Short neck, ...	OMIM:257300
Galloway-Mowat Syndrome 5	Epicanthus, Periventricular leukomalacia, Ataxia, Large earlobe, Primary microcephaly, Pachygyria...	OMIM:617731
Coxoauricular Syndrome	Microtia, Short stature, Hearing impairment	OMIM:122780
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Retinal coloboma, Macular coloboma	OMIM:107550
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Posteriorly rotated ears, Sparse eyebrow, Epiblepharon, Cortical dysp...	OMIM:617557
X-Linked Intellectual Disability, Wilson Type	Growth delay, Seizure, Lateral ventricle dilatation, Microcephaly	ORPHA:85290
6P22 Microdeletion Syndrome	Epicanthus, Short neck, Hydrocephalus, Low-set ears, Overfolded helix, Hearing impairment	ORPHA:251046
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Microcephaly, Conductive hearing impairment, Upper eyelid col...	ORPHA:398156
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, M...	OMIM:613330
Peho Syndrome	Cerebellar atrophy, Epicanthus, Palpebral edema, Infantile spasms, Microcephaly, External ear mal...	ORPHA:2836
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea	OMIM:615031
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Seizure, Scoliosis, M...	ORPHA:2611
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Axial Mesodermal Dysplasia Spectrum	Short stature, Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Vertebral segmen...	ORPHA:1834
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Optic atrophy, Cerebral atrophy, Increased CSF lactate, Seizure, Increased CSF glyc...	OMIM:615330
Marden-Walker Syndrome	Epicanthus, Short neck, Microcephaly, Kyphosis, Postnatal growth retardation, Seizure, Hypoplasia...	OMIM:248700
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Apnea, Hyperventilation	OMIM:229700
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Seizure, Hydrocephalus, Macrotia, Kyphoscoliosis	OMIM:300886
Borjeson-Forssman-Lehmann Syndrome	Short stature, Microcephaly, Kyphosis, Cervical spinal canal stenosis, Narrow palpebral fissure, ...	OMIM:301900
Shashi-Pena Syndrome	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Reduced cerebral white matter volume...	OMIM:617190
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Kyphosis, Hydrocephalus, Seizure, Platyspondyly, Holoprosencephaly,...	ORPHA:93274
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Abnormality of ...	OMIM:618820
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Malaria	Respiratory distress	ORPHA:673
Intellectual Developmental Disorder, Autosomal Dominant 22	Epicanthus, Telecanthus, Short stature, Abnormal pinna morphology, Highly arched eyebrow, Microce...	OMIM:612337
Leukodystrophy, Hypomyelinating, 4	Apnea	OMIM:612233
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Short stature, Hearing impairment, Microcephaly, Sparse eyebrow, Agenesis of corpus c...	OMIM:619989
6Q16 Microdeletion Syndrome	Broad-based gait, Abnormal ear morphology, Almond-shaped palpebral fissure, Upslanted palpebral f...	ORPHA:171829
Lissencephaly, X-Linked, 2	Seizure, Lissencephaly, Low-set ears, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:300215
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Parenti-Mignot Neurodevelopmental Syndrome	Epicanthus, Posteriorly rotated ears, Synophrys, Cupped ear, Upslanted palpebral fissure, Seizure...	OMIM:619873
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Highly arched eyebrow...	ORPHA:475
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Intellectual Developmental Disorder, Autosomal Dominant 1	Short attention span, Cerebellar vermis hypoplasia, Ataxia, Short stature, Highly arched eyebrow,...	OMIM:156200
17P13.3 Microduplication Syndrome	Short neck, Low-set ears, Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Vent...	ORPHA:217385
Distal Triplication 15Q	Telecanthus, Kyphosis, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Microtia, Sco...	ORPHA:314588
Joubert Syndrome 10	Epicanthus, Cerebellar vermis hypoplasia, Growth delay, Low-set ears, Molar tooth sign on MRI, Ro...	OMIM:300804
Acrocephalopolydactyly	Epicanthus, Microtia, Short neck	ORPHA:221054
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea, Respiratory insufficiency	OMIM:618226
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Epicanthus, Absent septum pellucidum, Microcephaly, Sensorineural hearing impairment, Lobar holop...	OMIM:618500
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Seiz...	ORPHA:3006
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Hennekam-Beemer Syndrome	Short stature, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Seizure, Microtia, Scoli...	ORPHA:2135
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Abnormal...	ORPHA:93262
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea	ORPHA:71277
Maternal Uniparental Disomy Of Chromosome 1	Ataxia, Short stature, Uplifted earlobe, Progressive psychomotor deterioration, Growth delay, Sei...	ORPHA:251009
21Q22.11Q22.12 Microdeletion Syndrome	Sacral dimple, Short stature, Microcephaly, Almond-shaped palpebral fissure, Postnatal growth ret...	ORPHA:261323
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Microcephaly, Spinal rigidity, Kyphosis, Hyperlordosis, Seizure, Tip-toe gait, Gai...	OMIM:617404
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Alexander Disease	Cerebral calcification, Ataxia, Facial palsy, Short neck, Aqueductal stenosis, Hyperlordosis, Hyd...	ORPHA:58
Desmosterolosis	Epicanthus, Rhizomelia, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Partial agenesis o...	OMIM:602398
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Holoprosencephaly 14	Cerebellar atrophy, Bilateral tonic-clonic seizure, Absent septum pellucidum, Alobar holoprosence...	OMIM:619895
Chromosome 19P13.13 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Chiari type I malformation, Seizure, Downsla...	OMIM:613638
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Palpebral edema, Microcephaly, Kyphosis, Protruding ear, Growth delay, Abnormal antih...	ORPHA:261144
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Proportionate short stature, Microcephaly, Short neck, Cupp...	OMIM:609654
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Microcephaly, Diffuse white matter abnormalities, Sensorineural hearing impai...	ORPHA:466934
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short attention span, Epicanthus, Short stature, Seizure, Microtia, Low-set ears, Downslanted pal...	OMIM:619056
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Myotonia, Potassium-Aggravated	Stridor, Apneic episodes in infancy	OMIM:608390
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Microcephaly, Sensorineural hearing impairment, Cerebral atrophy, Seizure, Lateral...	OMIM:619847
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Epicanthus, Abnormal eyelid morphology, Hydrocephalus, Downslanted palpebral fi...	ORPHA:1812
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,...	ORPHA:2635
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Ataxia, Microcephaly, Synophrys, Upslanted palpebral fissure, Seizure, Microtia...	OMIM:616977
Hypoadrenocorticism, Familial	Apnea	OMIM:240200
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Short neck, Synophrys, Prominent protruding coccyx, Protruding ear,...	OMIM:300966
Bilateral Polymicrogyria	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissence...	ORPHA:268940
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum, Chronic otitis media...	ORPHA:280
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Microcephaly, Focal-onset seizure, Focal motor seizure, Choreoat...	OMIM:308350
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Short neck, Microcephaly, Growth delay, Seizure,...	ORPHA:2083
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Short stature, Microcephaly, Aqueductal stenosis, Macrot...	ORPHA:2065
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem...	OMIM:608091
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic sei...	OMIM:617193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Synophrys, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive ce...	ORPHA:453521
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Palpebral edema, Highly arched e...	ORPHA:466688
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, S...	ORPHA:457279
Warburg Micro Syndrome 3	Bilateral tonic-clonic seizure, Kyphoscoliosis, Microcephaly, Postnatal growth retardation, Inabi...	OMIM:614222
Opitz-Kaveggia Syndrome	Epicanthus, Lumbar hyperlordosis, Sacral dimple, Short stature, Short neck, Hydrocephalus, Partia...	OMIM:305450
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, Abnormal retinal morphology, 4-layered lissencephaly,...	ORPHA:89844
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Posteriorly rotated ears, Partial agenesis of the corpus ca...	OMIM:616819
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Hemivertebrae, Protru...	ORPHA:85284
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Optic Pathway Glioma	Papilledema, Hydrocephalus, Vertigo, Optic atrophy, Growth delay, Seizure	ORPHA:2086
High Altitude Pulmonary Edema	Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Ataxia, Microcephaly, Seizure, Hypoplasia of the corpus ca...	OMIM:612936
Khan-Khan-Katsanis Syndrome	Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Highly arched eyebrow, Trichiasis, Ep...	OMIM:618460
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Optic atrophy, Dysmetr...	OMIM:617710
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hypopl...	OMIM:620155
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Orbital cyst, Seizure, Eyelid coloboma, Hypoplasia of the corpus callosum,...	OMIM:164180
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal size of the palpebral fissures, Highly arched eyebrow, Microcephaly, Congenital sensorin...	ORPHA:500159
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Ataxia, Dysmetria, Seizure, Abnormality of the vertebral column, Myoclonus, Truncal a...	OMIM:250620
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Epicanthus, Abnormal intervertebral disk morphology, Short sta...	ORPHA:2701
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina bifida, Microcephaly, Optic a...	ORPHA:99742
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Kyphosis, Impaired vibration sensation in the l...	OMIM:614409
Bainbridge-Ropers Syndrome	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Microcephaly, Inability to walk, Syn...	OMIM:615485
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Microcephaly, Almond-shaped palpebral fissure, Dysplastic corpus callosum, Pa...	OMIM:619103
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Short stature, Lateral ventricle dilatation, Scoliosis, Recurrent otitis media	OMIM:619995
Simpson-Golabi-Behmel Syndrome, Type 2	Low-set ears, Ventriculomegaly	OMIM:300209
Meier-Gorlin Syndrome 8	Intrauterine growth retardation, Microtia, Low-set ears	OMIM:617564
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Uplifted earlobe, Microcephaly, Kyphosis, Cerebral atrophy, Agenesis of corpus callos...	OMIM:616449
Mitochondrial Complex I Deficiency, Nuclear Type 33	Progressive neurologic deterioration, Reduced cerebral white matter volume, Optic atrophy, Simpli...	OMIM:618253
Nephronophthisis 18	Hydrocephalus, Retinitis	OMIM:615862
Crouzon Syndrome	Hearing impairment, Abnormal sacrum morphology, Hydrocephalus, Optic atrophy, Chiari malformation...	ORPHA:207
Osteopathia Striata With Cranial Sclerosis	Epicanthus, Short stature, Facial palsy, Posteriorly rotated ears, Conductive hearing impairment,...	OMIM:300373
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal myoclon...	ORPHA:481152
Arachnoid Cyst	Back pain, Cranial nerve compression, Holoprosencephaly, Sciatica, Encephalocele, Facial palsy, M...	ORPHA:2356
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Highly arched eyebrow, Microcephaly, Cerebral atrophy, Seizure, Ventriculomegaly	OMIM:618008
Septopreoptic Holoprosencephaly	Short attention span, Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Micro...	ORPHA:280195
Spinocerebellar Ataxia, Autosomal Recessive 28	Truncal titubation, Optic atrophy, Gait ataxia	OMIM:618800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Ataxia, Short stature, Microcephaly, Decreased nerve conduction velocity,...	ORPHA:1933
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Mild fetal ve...	OMIM:619435
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Short neck, Abnormal cerebral cortex mo...	ORPHA:75857
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Sacral dimple, Abnormal pinna morp...	OMIM:614175
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Epicanthus, Hearing impairment, Prominent ear helix, Cerebral atrophy, Upslan...	OMIM:618659
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly...	OMIM:616531
Joubert Syndrome 31	Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly, Truncal ataxia	OMIM:617761
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Epicanthus, Short stature, Posteriorly rotated ears, Uplifted earlobe, Short ne...	OMIM:616734
Neurodevelopmental Disorder With Spasticity And Poor Growth	Epicanthus, Ataxia, Short stature, Reduced cerebral white matter volume, Infantile spasms, Synoph...	OMIM:618076
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Epicanthus, Ataxia, Posteriorly rotated ears, Microcephaly, Prominent crus of...	OMIM:617804
Cerebral Visual Impairment	Short attention span, Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Opt...	ORPHA:447788
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Nemaline Myopathy 2	Respiratory insufficiency due to muscle weakness, Apnea	OMIM:256030
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Short stature, Underdeveloped antitragus, Posteriorly r...	OMIM:181270
Monosomy 9P	Epicanthus, Highly arched eyebrow, Short neck, Microcephaly, Synophrys, Upslanted palpebral fissu...	ORPHA:261112
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Posteriorly rotated ears, Short palpebral fissure, Synophrys, Seizure, Cerebellar hypoplasia, Att...	ORPHA:284169
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Infertility, Ciliary dyskinesia	OMIM:606763
Bethlem Myopathy 2	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:616471
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Epicanthus, Short stature, Impair...	ORPHA:314389
Retinal Dystrophy With Leukodystrophy	Waddling gait, Truncal titubation, Dysmetria, Falls, Rod-cone dystrophy	OMIM:618863
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Short stature, Microcephaly, Kyphosis, Seizure, Scoliosis	OMIM:300434
Pyruvate Dehydrogenase Deficiency	Epicanthus, Ataxia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Choreoathetosis, Ups...	ORPHA:765
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Absent septum pellucidum, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Col...	OMIM:309801
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Temporal optic disc pallor, Dysmetria, Titubation	ORPHA:459056
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Generalized non-motor (absence) seizure, Cerebral atrophy, Focal impaired awarenes...	OMIM:616521
Glutaric Acidemia I	Choreoathetosis, Seizure, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Epicanthus, Seizure, Short stature	ORPHA:85288
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea	OMIM:614498
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Lissencephaly Due To Lis1 Mutation	Cerebellar vermis hypoplasia, Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Focal m...	ORPHA:95232
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Microcephaly, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Growth ...	OMIM:619121
Cornelia De Lange Syndrome 5	Telecanthus, Short stature, Highly arched eyebrow, Short neck, Microcephaly, Postnatal growth ret...	OMIM:300882
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Short stature, Microcephaly, Hydrocephalus, S...	ORPHA:585
Adult Krabbe Disease	Increased CSF protein concentration, Prolonged brainstem auditory evoked potentials, Somatic sens...	ORPHA:206448
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, Protruding ear, Agenesis of corpus callosum, Scoliosis, Intrauterine...	OMIM:612940
Noonan Syndrome 14	Epicanthus, Lacrimal duct stenosis, Short stature, Posteriorly rotated ears, Short neck, Sparse e...	OMIM:619745
Myasthenic Syndrome, Congenital, 20, Presynaptic	Stridor, Hypoventilation, Apnea	OMIM:617143
Saethre-Chotzen Syndrome	Epicanthus, Short stature, Hearing impairment, Hyperlordosis, Prominent crus of helix, External e...	ORPHA:794
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly	OMIM:619278
Tatton-Brown-Rahman Syndrome	Epicanthus, Thick eyebrow, Optic nerve hypoplasia, Chiari type I malformation, Narrow palpebral f...	OMIM:615879
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Kapur-Toriello Syndrome	Posteriorly rotated ears, Short neck, Dysplastic corpus callosum, Retinal coloboma, Atresia of th...	ORPHA:2328
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Severe short stature, Microcephaly, Cerebral atrophy, ...	OMIM:619851
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Progressive neurologic deterioration, Short neck, Partial agenesis ...	OMIM:210710
Hemangioblastoma	Cerebellar edema, Dysesthesia, Hydrocephalus, Vertigo, Cerebellar hemangioblastoma, Retinal capil...	ORPHA:252054
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Ventriculomegaly, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Synophrys, Long eyelash...	OMIM:618381
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Epicanthus, Telecanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ea...	OMIM:618590
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Inability to walk, Difficulty walking, Cognitive impairment, Frontal cortical atrophy, Ventriculo...	ORPHA:206559
Dural Sinus Malformation	Papilledema, Somatic sensory dysfunction, Ataxia, Pulsatile tinnitus, Myelopathy, Hydrocephalus, ...	ORPHA:97339
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Epicanthus, Posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Cerebral ...	ORPHA:3224
Developmental And Epileptic Encephalopathy 101	Apnea	OMIM:619814
Snijders Blok-Campeau Syndrome	Epicanthus, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Scoliosis, Atte...	OMIM:618205
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Short stature, Optic nerve hypoplasia, Posteriorly rotated ears, Microcephaly, Agene...	OMIM:301056
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Seizure, Eyelid coloboma, Cerebellar hypop...	OMIM:613001
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Conductive hearing impairment, Thickened helices, Pachygyria, Agenesis of corpus callo...	OMIM:607872
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Seizure, Mental deterioration, Dandy-Walker malformation	OMIM:249400
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy	OMIM:301058
Orofaciodigital Syndrome Xvi	Ventriculomegaly, Ataxia, Inability to walk, Low-set ears, Molar tooth sign on MRI, Retinopathy, ...	OMIM:617563
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Retinal dysplasia...	OMIM:213300
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Short stature, Microcephaly, Abnormal cerebellum morphology, Sensor...	OMIM:300957
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Hemivertebrae, Growth delay, Agenesis of corpus callosum, Holoprosencephaly, Abnor...	ORPHA:77298
Pseudo-Torch Syndrome 3	Death in infancy, Apnea, Respiratory insufficiency	OMIM:618886
Zechi-Ceide Syndrome	Cerebellar vermis hypoplasia, Abnormal earlobe morphology, Narrow palpebral fissure, Microtia, Lo...	ORPHA:217017
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Seizure, Gait disturbance	ORPHA:275543
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Familial Scaphocephaly Syndrome, Mcgillivray Type	Upslanted palpebral fissure, Ventriculomegaly	ORPHA:168624
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Epicanthus, Short stature, Posteriorly rotated ears, Microcephaly, Long eyelashes,...	OMIM:615502
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Frontotemporal dementia, Lateral ventricle dilatation, Progressive langu...	OMIM:607485
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Posteriorly rotated ears, Hyperlordosis, Sparse ...	OMIM:617011
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Short attention span, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure...	OMIM:619580
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Unsteady gait, Protruding ear, Seizure, Scoliosis	OMIM:300861
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Telecanthus, Mixed hearing impairment, Posteriorly rotated ear...	ORPHA:314585
Infantile Sialic Acid Storage Disease	Epicanthus, Hydrocephalus, Cerebral atrophy, Seizure, Ptosis	OMIM:269920
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Epicanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microcephaly, Sparse eyebrow,...	OMIM:619720
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Short stature, Microcephaly, Sparse eyebrow, Macrotia, Seizure, Hypoplasia...	ORPHA:66629
Isotretinoin-Like Syndrome	Microcephaly, Postnatal growth retardation, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, U...	ORPHA:2306
Methylcobalamin Deficiency Type Cble	Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnormal cerebral white matter morphol...	ORPHA:2169
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Duplication Of The Pituitary Gland	Encephalocele, Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process m...	ORPHA:314621
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Kyphoscoliosis, Molar tooth sign on MRI, ...	OMIM:614815
Nabais Sa-De Vries Syndrome, Type 2	Posteriorly rotated ears, Sparse eyebrow, Chorea, Protruding ear, Seizure, Microtia, Low-set ears...	OMIM:618829
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairment, Scoliosis, L...	OMIM:618124
Ck Syndrome	Epicanthus, Posteriorly rotated ears, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, M...	OMIM:300831
Sporadic Infantile Bilateral Striatal Necrosis	Chorea, Gait ataxia, Titubation, Gait disturbance, Abnormal posturing	ORPHA:225147
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Sensorineur...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 64	Epicanthus, Microcephaly, Synophrys, Cupped ear, Upslanted palpebral fissure, Growth delay, Seizu...	OMIM:619188
3C Syndrome	Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hydrocephalus, Optic atrophy, ...	ORPHA:7
Atelis Syndrome 1	Glue ear, Lumbar kyphosis, Microtia, Attention deficit hyperactivity disorder, Downslanted palpeb...	OMIM:620184
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Takenouchi-Kosaki Syndrome	Synophrys, Abnormal periventricular white matter morphology, Ataxia, Highly arched eyebrow, Spars...	OMIM:616737
Dpm1-Cdg	Cerebellar atrophy, Early onset absence seizures, Ataxia, Generalized myoclonic seizure, Atonic s...	ORPHA:79322
Smith-Magenis Syndrome	Retinal detachment, Short stature, Impaired pain sensation, Microcephaly, Chronic otitis media, S...	ORPHA:819
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis	ORPHA:2181
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:610688
Oculocerebrocutaneous Syndrome	Hearing impairment, External ear malformation, Hydrocephalus, Polymicrogyria, Aplasia/Hypoplasia ...	ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Epicanthus, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Optic at...	OMIM:614576
Emanuel Syndrome	Sacral dimple, Microcephaly, Kyphosis, Hydrocephalus, Macrotia, Cerebral atrophy, Upslanted palpe...	OMIM:609029
Congenital Disorder Of Glycosylation, Type Ii	Epicanthus, Epileptic spasm, Short stature, Infantile spasms, Microcephaly, Sensorineural hearing...	OMIM:607906
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder, Chiari malformation	ORPHA:261102
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Cerebral atrophy, Seizure, Ventriculomegaly, Microcephaly	OMIM:617051
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Tonic seizure, Chorea, Simplified...	OMIM:612389
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Cervica...	ORPHA:87
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Microcephaly, Seizure, Scoliosis, Hypoplasia of the corpus callosum, Ventriculo...	OMIM:300958
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Short attention span, Epicanthus, Sacral dimple, Palpebral ede...	ORPHA:363659
De Sanctis-Cacchione Syndrome	Entropion, Ataxia, Severe short stature, Bilateral tonic-clonic seizure, Microcephaly, Basal gang...	OMIM:278800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:3095
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Hyperventilation	OMIM:617903
Developmental And Epileptic Encephalopathy 84	Ventriculomegaly, Epicanthus, Epileptic spasm, Microcephaly, Chorea, Synophrys, Large earlobe, Se...	OMIM:618792
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Short stature, Curly eyelashes, Short neck, Multiple rows of eyelashes, Cuboid-shaped vertebral b...	ORPHA:163654
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Zttk Syndrome	Hemivertebrae, Protruding ear, Short stature, Sparse eyebrow, Abnormal cerebral white matter morp...	OMIM:617140
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Bilateral ptosis, Kyphosis, Upsla...	ORPHA:352490
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Skraban-Deardorff Syndrome	Broad-based gait, Seizure, Hypoplasia of the corpus callosum, Recurrent otitis media, Spastic gai...	OMIM:617616
Superficial Siderosis	Back pain, Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Impaired temperatur...	ORPHA:247245
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Focal emotional seizure with...	OMIM:241800
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Smith-Magenis Syndrome	Retinal detachment, Short stature, Impaired pain sensation, Synophrys, Seizure, Scoliosis, Abnorm...	OMIM:182290
Tenorio Syndrome	Ventriculomegaly, Telecanthus, Hydrocephalus, Seizure, Keratoconjunctivitis sicca, Gait disturban...	OMIM:616260
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio...	ORPHA:254516
Gm1-Gangliosidosis, Type Ii	Ataxia, Generalized myoclonic seizure, Optic atrophy, Progressive psychomotor deterioration, Cere...	OMIM:230600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Spina bifida occulta, Agenesis of corpus callosum, Short stature, Highly arched eyebrow, Small ce...	OMIM:617360
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Microcephaly, Kyphosis, Upslante...	OMIM:615834
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Short neck, Hypoplasia of the corp...	OMIM:618804
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Hydrocephal...	ORPHA:1454
Vacterl With Hydrocephalus	Absence of the sacrum, Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, ...	ORPHA:3412
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Highly arched eyebrow, Megalencephaly, Infantile spasms, Seizure, Status epilepticus, Periventric...	ORPHA:500533
Cousin Syndrome	Hydranencephaly, Rhizomelia, Posteriorly rotated ears, Hearing impairment, Short neck, Hydrocepha...	OMIM:260660
Acromelic Frontonasal Dysplasia	Encephalocele, Telecanthus, Anterior pituitary hypoplasia, Meningocele, Choroid plexus cyst, Retr...	ORPHA:1827
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Charge Syndrome	Aqueductal stenosis, Hemivertebrae, Eyelid coloboma, Hypoplasia of the semicircular canal, Holopr...	ORPHA:138
2P15P16.1 Microdeletion Syndrome	Protruding ear, Facial palsy, Sparse eyebrow, Gait disturbance, Scoliosis, Low-set ears, Ptosis, ...	ORPHA:261349
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ...	OMIM:620166
Trisomy 1Q	Hydrocephalus, Abnormality of the outer ear, Agenesis of corpus callosum, Cerebellar hypoplasia, ...	ORPHA:261344
Tarp Syndrome	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Optic atrophy, Prominent antihelix, Athet...	OMIM:311900
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Epicanthus, Short stature, Optic nerve hypoplasia, M...	OMIM:300749
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Ataxia, Kyphosis, Attention deficit hyperactivity disorder, Progressive microcephaly	OMIM:620007
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Upper eyelid entropion, Olivopontocerebellar hypoplasia, Hydrocephalus, S...	ORPHA:457284
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, A...	ORPHA:59315
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Seizure, Pachygyria, Agenesis of corpus callosum, Ventriculo...	ORPHA:452
Alkuraya-Kucinskas Syndrome	Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Upslanted pal...	OMIM:617822
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Abnormal pinna morphology, Congenital bilateral...	ORPHA:1692
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Steppage gait, Tip-toe gait, Scoliosis	OMIM:615290
Joubert Syndrome 36	Highly arched eyebrow, Sensorineural hearing impairment, Seizure, Molar tooth sign on MRI, Ptosis	OMIM:618763
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Short stature, Microcephaly, Upslanted palpebral fissure, Seizure, Micro...	OMIM:610536
Ohdo Syndrome	Epicanthus, Short stature, Hearing impairment, Sparse eyebrow, Seizure, Microtia, Blepharophimosi...	OMIM:249620
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Short stature, Microcephaly, Epiblepharon, Tonic seizure, Seizure, Lateral ve...	OMIM:618367
Hypophosphatasia, Infantile	Death in infancy, Stillbirth, Apnea	OMIM:241500
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Short neck, Hydrocephalus, Growth delay, Cerebellar hypoplasia, Hypoplasia...	OMIM:300514
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Upslanted palpebra...	OMIM:619306
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation, Microtia, Abnormal form of the vertebral bo...	ORPHA:1788
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Seizure, Secondary microcephaly, Cerebellar hypoplasia, Ventriculomegaly	OMIM:613730
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Microcephaly, Akinesia, Seizure, Microtia, Low-set ears, In...	OMIM:608013
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Recombinant Chromosome 8 Syndrome	Posteriorly rotated ears, Postnatal growth retardation, Cerebral atrophy, Growth delay, Seizure, ...	OMIM:179613
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Facial palsy, Posteriorly rotated ears, Short neck, Microcephaly, Kyphosis, Inabil...	OMIM:301041
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Severe short stature, Posteriorly rotated ears, Decreased response to growth hormone stimulation ...	OMIM:618336
Developmental And Epileptic Encephalopathy 80	Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Upslant...	OMIM:618580
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Respiratory insufficiency	OMIM:614462
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Short stature, Microcephaly, Synophrys, Optic atrophy, Protruding ear, Seizure, Scoliosis, Agenes...	OMIM:300004
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Epicanthus, Short neck, Synophrys, Partial absence of cerebellar vermis, Upsl...	ORPHA:280633
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Short neck, Chorea, Conductive hearing imp...	OMIM:601808
Myotonia Fluctuans	Stridor, Apnea	ORPHA:99734
Weaver Syndrome	Epicanthus, Bilateral tonic-clonic seizure, Absent septum pellucidum, Kyphosis, Generalized non-m...	OMIM:277590
Birk-Landau-Perez Syndrome	Camptocormia, Microcephaly, Optic atrophy, Limb ataxia, Choreoathetosis, Upslanted palpebral fiss...	OMIM:617595
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Infantile spasms, Micro...	ORPHA:50
X-Linked Intellectual Disability, Van Esch Type	Short stature, Microcephaly, Increased circulating gonadotropin level, Microtia, Attention defici...	ORPHA:163976
Hydrolethalus	Low-set, posteriorly rotated ears, Absent septum pellucidum, Hydrocephalus, Anencephaly, Low-set ...	ORPHA:2189
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the o...	OMIM:183900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Craniosynostosis, Herrmann-Opitz Type	Short stature, Abnormal antihelix morphology, Microtia, Cognitive impairment, Intrauterine growth...	ORPHA:2145
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Dysgenesis of the ba...	OMIM:600638
Thakker-Donnai Syndrome	Communicating hydrocephalus, Posteriorly rotated ears, Short neck, Hemivertebrae, Upslanted palpe...	ORPHA:1780
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Synophrys, Microtia, Severe sensorineura...	ORPHA:2983
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Epicanthus, Short stature, Microc...	ORPHA:1606
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia	OMIM:243440
Moyamoya Disease	Seizure, Ventriculomegaly	ORPHA:2573
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia	OMIM:612138
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short stature, Hearing abnormality, Meningocele, Protruding ea...	ORPHA:2031
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short stature, Short neck	ORPHA:2183
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia, Lacrimal duct atresia	ORPHA:139450
1Q21.1 Microdeletion Syndrome	Epicanthus, Short stature, Microcephaly, Hydrocephalus, Sensorineural hearing impairment, Seizure...	ORPHA:250989
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology, Seizure, ...	ORPHA:8
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Short neck, Hydrocephalus, Upslanted palpebral fissure, Growth delay, Anotia,...	OMIM:614083
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Cerebellar vermis hypoplasia, Sparse eyelashes, Optic nerve hypoplasia...	OMIM:605627
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency	OMIM:618222
Srd5A3-Cdg	Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Decreased response to growth hormone stimulati...	ORPHA:324737
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Optic atrophy, Chorioretinal a...	OMIM:619487
48,Xxyy Syndrome	Asthma, Apnea	ORPHA:10
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Delayed puberty	ORPHA:141333
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Epicanthus, Short stature, Microcephaly, Hydroc...	ORPHA:1908
Gorlin Syndrome	Vertebral fusion, Epicanthus, Telecanthus, Cerebral calcification, Hydrocephalus, Hemivertebrae, ...	ORPHA:377
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Epicanthus, Thick eyebrow, Ataxia, Abnormal pinna morphology, Microcephaly, C...	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Hearing impairment, Microcephaly, Optic atrophy, Increased CSF lactate, Seizu...	OMIM:616239
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Posteriorly rotated ears, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Smal...	OMIM:619479
Joubert Syndrome 35	Telecanthus, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Synophrys, Low-set ears...	OMIM:618161
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Amelocerebrohypohidrotic Syndrome	Short stature, Hydrocephalus, Seizure, Dementia, Mental deterioration	ORPHA:1946
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Synophrys, Microtia, Conjunctivitis, Recurrent otitis media, Long palpe...	OMIM:602562
Seckel Syndrome 7	Severe short stature, Microcephaly, Seizure, Microtia, Lumbar scoliosis, Intrauterine growth reta...	OMIM:614851
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Absent septum pellucidum, Highly arched eyebrow, Microcephaly, Synophrys, Genera...	ORPHA:96147
16P13.11 Microdeletion Syndrome	Generalized-onset seizure, Short stature, Microcephaly, Sensorineural hearing impairment, Agenesi...	ORPHA:261236
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Short stature, Microce...	OMIM:619869
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Generalized-onset seizure, Synophrys, Protruding ear, Ataxia, Thoracolumbar scoliosis, Short stat...	OMIM:618443
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Seizure, Yellow/white l...	ORPHA:93400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly, Retinal degeneration	OMIM:615630
19P13.12 Microdeletion Syndrome	Epicanthus, Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Synophrys, Microce...	ORPHA:254346
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Telecanthus, Remnants of the hyaloid vascular s...	OMIM:603671
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Epicanthus, Short stature, Microcephaly, Kyphosis, Sensorine...	ORPHA:192
Linear Skin Defects With Multiple Congenital Anomalies 3	Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum, Lacrimal duct atresia	OMIM:300952
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Posteriorly rotated ears, Short stature, Kyphosis, Macrotia	OMIM:618392
Pseudotrisomy 13 Syndrome	Encephalocele, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Hemivertebrae, Upslanted pa...	OMIM:264480
Marden-Walker Syndrome	Severe short stature, Posteriorly rotated ears, Absent septum pellucidum, Microcephaly, Kyphosis,...	ORPHA:2461
Monosomy 18Q	Epicanthus, Short stature, Abnormal retinal morphology, Kyphoscoliosis, Microcephaly, Hydrocephal...	ORPHA:1600
Johnson Neuroectodermal Syndrome	Absent eyebrow, Severe short stature, Facial palsy, Microcephaly, Absent eyelashes, Protruding ea...	ORPHA:2316
Distal Xq28 Microduplication Syndrome	Short stature, Microcephaly, Upper eyelid edema, Microtia, Tip-toe gait, Attention deficit hypera...	ORPHA:293939
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Seizure, Abnormal cerebral white matter morphology, Downslanted palpebral fissures, Abn...	OMIM:618512
Propionic Acidemia	Tachypnea, Apnea	OMIM:606054
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Epicanthus, Growth delay, Microtia, Blepharophimosis, Hearing impairment	OMIM:616006
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Vici Syndrome	Abnormality of retinal pigmentation, Short stature, Hypoplasia of the pons, Sensorineural hearing...	ORPHA:1493
Ring Chromosome 22 Syndrome	Epicanthus, Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Growth ...	ORPHA:1446
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Cerebellar gliosis, Periventricular cysts, Subependymal cysts, Inc...	ORPHA:3008
Kabuki Syndrome 1	Protruding ear, Abnormal vertebral morphology, Short stature, Highly arched eyebrow, Sparse eyebr...	OMIM:147920
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Short stature, Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Optic dis...	ORPHA:52055
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Intrauterine growth retardation	OMIM:620135
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Degeneration of anterior horn cells, Abnormal anterior horn cell morphology...	ORPHA:1145
Tetrasomy 15Q26	Kyphoscoliosis, Hydrocephalus, Cupped ear, Low-set ears, Intrauterine growth retardation, Downsla...	OMIM:614846
Monosomy 9Q22.3	Epicanthus, Short neck, Kyphosis, Hydrocephalus, Seizure, Abnormality of the vertebral column, Do...	ORPHA:77301
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic nerve compression...	OMIM:612301
Adnp Syndrome	Short stature, Microcephaly, Bilateral ptosis, Cerebral atrophy, Protruding ear, Seizure, Microti...	ORPHA:404448
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Hypotonia, Generalized hypotonia, Ventriculomegaly	OMIM:616538
Flynn-Aird Syndrome	Cerebral calcification, Ataxia, Impaired pain sensation, Kyphosis, Seizure, Dementia, Scoliosis, ...	ORPHA:2047
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Cupped ear, Hypoplasia of the corpus callosum	OMIM:618914
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Schilbach-Rott Syndrome	Epicanthus, Short stature, Posteriorly rotated ears, Microcephaly, Upslanted palpebral fissure, M...	OMIM:164220
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary...	ORPHA:54595
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Microcephaly, Almond-shaped palpebral fissure, Choreoathetosis, Thin corpus c...	OMIM:619603
Beare-Stevenson Cutis Gyrata Syndrome	Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Chiari malfo...	OMIM:123790
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:182230
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Bilateral tonic-clonic seizure, Microcephaly, Unsteady gait, Thick corpus callosum, G...	OMIM:617798
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Edinburgh Malformation Syndrome	Seizure, Hydrocephalus, Low-set ears, Synophrys	ORPHA:1895
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Mixed hearing impairment, Highly arche...	OMIM:620305
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation	OMIM:209880
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Kyphosis, Seizure, Scoliosis, Downslanted palpebral fissures	ORPHA:276630
Alg8-Cdg	Ataxia, Optic atrophy, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Low-set e...	ORPHA:79325
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Prominent antihelix, Seizure,...	OMIM:613744
Sialidosis Type 2	Kyphosis, Ataxia, Abnormal macular morphology	ORPHA:87876
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Postnatal growth retardation, Seizure, Hypoplasia of the corpus callosum, Ventricu...	OMIM:620210
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Kyphoscoliosis, Microcephal...	OMIM:301040
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Microcephaly, Optic atrophy, Secondary microcephaly, Abnormal autonomic nervo...	OMIM:616683
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Kyphosis, Spastic paraplegia, Optic atrophy, Scoliosis	OMIM:609541
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Microcephaly, Protruding ear, Seizure, Extra-axial cerebrospinal fluid ac...	OMIM:618798
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Microcephaly, Intrauterine growth retardation, Downslanted palpebral fissur...	ORPHA:2643
Au-Kline Syndrome	Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Sensorineural hearing impairment, Lipomyel...	OMIM:616580
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Cerebral calcification, Abnormal retinal vascula...	ORPHA:3205
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Microcephaly, Disproportionate short-limb short stature, Aplas...	ORPHA:2772
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Acitretin/Etretinate Embryopathy	Epicanthus, Abnormal retinal morphology, Microcephaly, Cupped ear, Antecubital pterygium, Microti...	ORPHA:40366
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Hearing im...	OMIM:309900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Synophrys, Seizure, Gait disturbance, Scoliosis, Thick eyebrow	ORPHA:2429
Basilicata-Akhtar Syndrome	Telecanthus, Epicanthus, Abnormal pinna morphology, Short neck, Seizure, Low-set ears, Downslante...	OMIM:301032
Spinocerebellar Ataxia Type 13	Optic disc pallor, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, Gait ataxia, ...	ORPHA:98768
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Increased CSF lacta...	OMIM:614946
Isotretinoin Syndrome	Sacral dimple, Microtia, Cognitive impairment, Spina bifida occulta, Abnormality of the outer ear	ORPHA:2305
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Short neck, Postnatal growth retardation, Microtia, Low-set ears, Dysplastic sacru...	OMIM:613320
Houge-Janssens Syndrome 3	Epicanthus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Micr...	OMIM:618354
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Leigh Syndrome	Progressive neurologic deterioration, Chorea, Choreoathetosis, Encephalomalacia, Abnormal optic n...	ORPHA:506
Rahman Syndrome	Telecanthus, Kyphoscoliosis, Thin corpus callosum, Ventriculomegaly	OMIM:617537
Koolen-De Vries Syndrome Due To A Point Mutation	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, Ch...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, Ch...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Short neck, In...	OMIM:620224
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Kyphosis, Unsteady gait, Cerebral atrophy, Seizure, Focal im...	OMIM:617435
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Broad eyebrow, Low-set, posteriorly rotated ears, Lumbar hyperlordos...	ORPHA:457359
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Scoliosis, Ventriculomegaly	OMIM:611555
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Synophrys, Microtia, Downslanted palpebral fissures, Low-set ears	ORPHA:357175
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Focal-onset seizure, Chiari type I malformation, Microtia, Cerebral whit...	ORPHA:436003
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology, Ocular albinism, Seizure, Ap...	ORPHA:2720
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Abnormality of retinal pigmentation, Hyperlordosis	ORPHA:3085
Tetrasomy 5P	Pericallosal lipoma, Epicanthus, Posteriorly rotated ears, Short neck, Postnatal growth retardati...	ORPHA:3309
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormal brainstem morphology, Abnormal pons mor...	ORPHA:370997
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Death in infancy, Optic atrophy	ORPHA:2971
Kcnq2-Related Epileptic Encephalopathy	Apnea	ORPHA:439218
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Epicanthus, Ventriculomegaly, Hearing impairment	ORPHA:363444
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Hemivertebrae, Low-set ears...	OMIM:220210
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Temple Syndrome	Posteriorly rotated ears, Short stature, Hydrocephalus, Scoliosis, Recurrent otitis media, Intrau...	OMIM:616222
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Small pituitary gland, Seve...	OMIM:614195
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Hypotonia, Ventriculomegaly	ORPHA:60040
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Thoracic kyphosis, Ventriculomegaly, Primary microcephaly	ORPHA:2172
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Infantile spasms, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral ...	ORPHA:79282
Al-Gazali-Bakalinova Syndrome	Short neck, Low-set ears, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of...	OMIM:607131
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Sacral dimple, Short stature, Microcephaly, Cerebral atrophy, Protruding ear,...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Recessive 35	Synophrys, Microtia, Downslanted palpebral fissures, Low-set ears	OMIM:615162
Intellectual Developmental Disorder, Autosomal Dominant 51	Febrile seizure outside the age of 3 months to 6 years, Epicanthus, Attention deficit hyperactivi...	OMIM:617788
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Respiratory insufficiency	OMIM:608093
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Meningocele, Seizure, Chiari malformation, Chorioretinal col...	ORPHA:2481
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea	OMIM:314580
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Short stature, Rhizomelia, Short neck, Prominent antitragus, Hydrocephalus, Platyspondyly, Microt...	OMIM:245600
Trisomy 17P	Short stature, Hearing impairment, Short neck, Microcephaly, Hydrocephalus, Growth delay, Scolios...	ORPHA:261290
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia, Short stature, Seizure, Conductive hearing impairment	ORPHA:1861
Distal 16P11.2 Microdeletion Syndrome	Retinal dystrophy, Aganglionic megacolon, Kyphosis, Neonatal hypotonia, Rod-cone dystrophy	ORPHA:261222
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Holoprosencephaly	Short neck, Chorea, Synophrys, Panhypopituitarism, Abnormal form of the vertebral bodies, Holopro...	ORPHA:2162
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea	OMIM:612949
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Ectropion of lower eyelids, Cupped ear, Eyelid coloboma, Micro...	ORPHA:246
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Seizure, Conjunctivitis, Atresia of the external auditory canal, Sh...	OMIM:123500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Cerebral atrophy	OMIM:618453
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Cupped ear, Lower eyelid coloboma, Protruding ear, Microtia, Low-set ears, Cond...	OMIM:616367
Holoprosencephaly 11	Microcephaly, Synophrys, Holoprosencephaly, Agenesis of corpus callosum, Thick eyebrow	OMIM:614226
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Short stature, Thoracolumbar scoliosis, Short neck, Microcephaly, Platyspondyly, Micr...	OMIM:616723
Sotos Syndrome	Posteriorly rotated ears, Sparse eyebrow, Conductive hearing impairment, Partial agenesis of the ...	OMIM:117550
Van Maldergem Syndrome 1	Epicanthus, Sacral dimple, Conductive hearing impairment, Sensorineural hearing impairment, Subco...	OMIM:601390
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Low-set ears, Intrauterine growth retard...	OMIM:300863
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Short stature, Microcephaly, Decreased nerve conduction velocity, Bas...	OMIM:610651
Ogden Syndrome	Ventriculomegaly, Postnatal growth retardation, Cerebral atrophy, Shuffling gait, Scoliosis, Low-...	ORPHA:276432
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea	OMIM:300055
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital bilateral ptosis, Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched ...	OMIM:609384
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Short stature, Seizure, Hypoplasia of the ear cartilage, Downs...	ORPHA:1035
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Gait disturbance	OMIM:614898
X-Linked Intellectual Disability, Cantagrel Type	Seizure, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:85277
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microcephaly, Hearing abnormality, Cupped ear, Ocular albinism, Upslanted palpebral fissure, Micr...	ORPHA:1352
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Hearing impairment, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Ce...	OMIM:220500
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp...	OMIM:243605
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Ataxia, Short stature, Abnormal eyelash morphology, H...	ORPHA:381
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Hemivertebrae, Simplified gyral pattern, Protruding ear, Cerebellar he...	ORPHA:500150
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla...	ORPHA:2510
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves...	ORPHA:637
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E...	OMIM:615873
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Generalized-onset seizure, Posteriorly rotated ears, Abnormal cortical gyration, Kyphosis, Cessat...	OMIM:617527
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon...	ORPHA:217563
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Kyphosis, Hypertonia, Scoliosis, Retinal fold	OMIM:108145
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Epicanthus, Ventriculomegaly, Cerebellar vermis hypoplasia, Sh...	ORPHA:1394
Peters-Plus Syndrome	Short neck, Hemivertebrae, Protruding ear, Agenesis of corpus callosum, Rhizomelia, Seizure, Reti...	OMIM:261540
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Short stature, Posteriorly rotated ears, Short neck, Abnormality o...	OMIM:130720
Fatal Familial Insomnia	Apnea	OMIM:600072
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Cog8-Cdg	Cerebellar atrophy, Ventriculomegaly, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting ...	ORPHA:95428
Cardiomyopathy, Familial Restrictive, 1	Ventriculomegaly	OMIM:115210
Neuromuscular Oculoauditory Syndrome	Epicanthus, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Infantile spasms, Decreased...	OMIM:618733
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus	ORPHA:77300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lumbar hyperlordosis, Short stature, Hypopl...	OMIM:616975
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Hemivertebrae, Abnormal form of the vertebral bodies, Low-set ears, Scoliosis	ORPHA:2180
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Epicanthus, Mixed hearing impairment, Short stature, Posteriorly rotated ears, Sparse eyebrow, Se...	OMIM:606164
White-Kernohan Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Dysplastic corpus callosum, Synophrys, Broad medial eyebr...	OMIM:619426
Hydrocephalus, Normal-Pressure, 1	Dementia, Gait disturbance, Normal pressure hydrocephalus	OMIM:236690
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Dysplastic corpus callosum, Seizure, Cerebellar hypoplasia	OMIM:618810
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Short stature, Kyphosis, Synophrys, Protruding ear, Scoliosis,...	ORPHA:2471
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Genitopalatocardiac Syndrome	Microcephaly, Kyphosis, Hydrocephalus, Scoliosis, Low-set ears, Intrauterine growth retardation, ...	ORPHA:2075
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Short stature,...	ORPHA:168577
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Kyphosis, Abnormal form of the vertebral bodies, Gai...	ORPHA:812
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Microcephaly, Choreoathetosis, S...	ORPHA:431361
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Highly arched eyebrow, Hydrocephalus, Sensorineu...	OMIM:239300
Congenital Disorder Of Glycosylation, Type Iim	Epicanthus, Epileptic spasm, Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatatio...	OMIM:300896
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Van Maldergem Syndrome 2	Epicanthus, Sacral dimple, Hearing impairment, Conductive hearing impairment, Sensorineural heari...	OMIM:615546
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Epicanthus, Generalized-onset seizure, Anterior pituitary hypoplas...	OMIM:613457
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Posteriorly rotated ears, Cerebral atrophy, Growth delay, Seizure, Microtia, Long eyelashes, Scol...	OMIM:601353
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Increased CSF lactat...	OMIM:619272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila...	OMIM:604320
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Cerebellar hypoplasia, Low-set ears, Int...	ORPHA:163966
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Short stature, Anterior pituitary hypoplasia, Hearing impairment...	ORPHA:264200
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Short stature, Decreased response to growth hormone stimulation test, Hyperlo...	OMIM:616007
Marshall-Smith Syndrome	Thoracic scoliosis, Synophrys, Thoracic kyphosis, Shallow orbits, Pachygyria, Agenesis of corpus ...	OMIM:602535
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Apnea	OMIM:210200
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Short stature, Posteriorly rotated ears, Hearing impairment, Short ne...	OMIM:115150
Medulloblastoma	Back pain, Ataxia, Cerebellar calcifications, Hydrocephalus, Vertigo, Dysmetria, Progressive cere...	ORPHA:616
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Short stature, Microcephaly, Kyphosis, Aplasia/Hypoplasia of the co...	ORPHA:96169
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Shor...	ORPHA:444072
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona...	OMIM:600501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Increased CSF lactate	OMIM:604273
Microtia	Abnormal pinna morphology, Anotia, Microtia, Holoprosencephaly, Attention deficit hyperactivity d...	ORPHA:83463
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Periventricular leukomalacia, Cerebral calcification, Cerebellar vermis h...	OMIM:620024
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal...	ORPHA:2549
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Seizure, Platyspondyly, Lethal sho...	ORPHA:1860
Trichothiodystrophy	Epicanthus, Periventricular leukomalacia, Generalized-onset seizure, Cerebral dysmyelination, Mic...	ORPHA:33364
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Curly eyelashes, Short neck, Postnatal growth retardation, Anterior scalloping of vertebral bodie...	OMIM:611717
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, ...	ORPHA:364028
Branchiootorenal Syndrome 1	Mixed hearing impairment, Lacrimal duct stenosis, Facial palsy, Dilatated internal auditory canal...	OMIM:113650
Gaucher Disease, Type Ii	Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia	OMIM:230900
Lenz-Majewski Hyperostotic Dwarfism	Lacrimal duct stenosis, Anterior pituitary hypoplasia, Short stature, Microcephaly, Dysplastic co...	OMIM:151050
Sandifer Syndrome	Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Rett Syndrome	Apnea, Intermittent hyperventilation	OMIM:312750
Albers-Schönberg Osteopetrosis	Short stature, Facial palsy, Hydrocephalus, Optic atrophy, Hearing impairment	ORPHA:53
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Gait disturbance, Scoliosis	ORPHA:702
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Noonan Syndrome 12	Spinal canal stenosis, Decreased response to growth hormone stimulation test, Ventriculomegaly, C...	OMIM:618624
Tay-Sachs Disease	Cerebellar atrophy, Short attention span, Hypointensity of cerebral white matter on MRI, Inabilit...	ORPHA:845
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Epicanthus, Ataxia, Short stature, Microcephaly, Pachygyria, Macrotia, Optic ...	OMIM:251300
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly...	OMIM:617914
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Short neck, Kyphoscoliosis, Reduced cerebral white matter volume, Synophry...	OMIM:615803
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Short neck, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem...	OMIM:616546
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Abnormal eyelid morphology, Vitritis, Abnormality of the ear, Retinal dy...	ORPHA:2556
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Confusion	OMIM:620137
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Increased CSF lactate, Truncal ataxia, Mental deterioration, Intrauterine growth ret...	OMIM:619051
7Q11.23 Microduplication Syndrome	Short neck, Hemivertebrae, Simplified gyral pattern, Dysmetria, Abnormal optic disc morphology, C...	ORPHA:96121
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, P...	OMIM:610828
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Thick eyebrow, Short stature, Highly arched eyebrow, Microcephaly, Bilateral pt...	OMIM:614701
Caribbean Parkinsonism	Orthostatic hypotension, T2 hypointense basal ganglia, Frontal lobe dementia, Progressive gait at...	ORPHA:97355
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Seizure, Broad-based gait, Ventriculomegaly	OMIM:618707
Focal Facial Dermal Dysplasia Type Iv	Focal-onset seizure, Hydrocephalus, Microcephaly	ORPHA:398189
Hypertelorism, Microtia, Facial Clefting Syndrome	Microcephaly, Abnormality of the vertebral column, Microtia, Atresia of the external auditory can...	OMIM:239800
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Megalencephaly, Inability to walk, Seizure, Difficulty walking, Ventriculomegaly	OMIM:611087
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Seizure, Secondary microcephaly, Short stature	OMIM:619423
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance	ORPHA:1875
Ruvalcaba Syndrome	Kyphosis, Retinal dystrophy, Scoliosis	OMIM:180870
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hearing impairment, Kyphosis, Hydrocephalus, Disproportionate s...	ORPHA:15
Hypertelorism-Microtia-Facial Clefting Syndrome	Severe short stature, Microcephaly, Microtia, Atresia of the external auditory canal, Conductive ...	ORPHA:2213
Joubert Syndrome 28	Optic disc pallor, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Molar tooth sign on MRI	OMIM:617121
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea	OMIM:261680
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Confusion, Short stature, Microcephaly, Hydrocephalus, Optic atrophy, Retinopathy, Hearin...	ORPHA:220295
Spinocerebellar Ataxia, Autosomal Recessive 30	Unsteady gait, Ataxia, Dysmetria, Titubation	OMIM:619405
Fumarase Deficiency	Microcephaly, Conjunctival icterus, Choroid plexus cyst, Optic atrophy, Cerebral atrophy, Hypopla...	OMIM:606812
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Seizure, Ventriculomegaly	OMIM:618667
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Short attention span, Cerebellar atrophy, Ataxia, Kyphosis, Dysmetr...	ORPHA:88644
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Cerebral white matter atrophy, Ataxia, Myelopathy, Cerebral edema, Leukoencepha...	OMIM:617186
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Developmental And Epileptic Encephalopathy 100	Chorea, Synophrys, Gait ataxia, Choreoathetosis, Myoclonic seizure, Pachygyria, Tonic seizure, Ty...	OMIM:619777
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Cerebellar hypoplasia, Molar tooth sign on MRI, Retinopathy	OMIM:617562
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Ventriculomegaly, Short stature, Hearing impairment, Cupped ear, Upslanted palpebral ...	OMIM:617159
Kleefstra Syndrome 2	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:617768
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Microtia, Atresia of the external auditory canal, Conductive hearing impairment...	OMIM:300946
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Distal Deletion 3P	Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Sacral dimple, Short stature, Hearing...	ORPHA:1620
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Hydrocephalus, Sensorineural hearing impairment, Seizure, Secondary microcephaly, Lis...	OMIM:612938
Mucopolysaccharidosis, Type Vii	Epicanthus, Anterior beaking of lower thoracic vertebrae, Short stature, Severe short stature, Sh...	OMIM:253220
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Cerebral calcification, Aqueductal stenosis, Upslanted palpebral f...	ORPHA:3035
Nager Syndrome	Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Lower eyelid colob...	ORPHA:245
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hearing impairment, Microcephaly, Postnatal growth retardation, Microtia, Recurrent otitis media,...	ORPHA:2728
Distal Deletion 9P	Low-set, posteriorly rotated ears, Epicanthus, Short neck, Aplasia/Hypoplasia of the earlobes, Up...	ORPHA:1642
Trisomy 13	Abnormal eyelash morphology, Abnormal retinal vascular morphology, Kyphosis, Sensorineural hearin...	ORPHA:3378
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Bilateral ptosis, Synophrys, Enlarged cerebellum, Colpocephaly, Hypoplasia of the...	ORPHA:477993
Congenital Disorder Of Glycosylation, Type If	Ataxia, Microcephaly, Optic atrophy, Cerebral atrophy, Seizure, Ventriculomegaly	OMIM:609180
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea	ORPHA:79644
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation, Ptosis	OMIM:147800
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Buratti-Harel Syndrome	Epicanthus, Posteriorly rotated ears, Microtia, Low-set ears, Sparse medial eyebrow, Downslanted ...	OMIM:619314
Stickler Syndrome, Type I	Retinal detachment, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous appearance, R...	OMIM:108300
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Synophrys, Abnormal form of the vertebral bodies, Otitis me...	ORPHA:581
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Generalized-onset seizure, Megalencephaly, Focal-onset seizure, Seizure, Gait disturbance, Polymi...	ORPHA:457485
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Dysmetria, Gait ataxia, Protruding ear, Hippocampal atrophy, Ataxia, Short stature, Se...	OMIM:614756
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Ankyloblepharon, Holoprosencephaly...	OMIM:612651
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Platyspondyly, Downslanted ...	OMIM:616294
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia...	ORPHA:263508
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Sacral dimple, Diffuse cerebral atrophy, Highly arched eyebrow, Short ne...	OMIM:613776
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:521390
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Short stature, Thoracolumbar scoliosis, Short neck, Sensorineural heari...	OMIM:300472
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Simple febrile seizure, Microcephaly, Kyphosis, Abnormal b...	ORPHA:464311
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Death in childhood, Death in adolescence	OMIM:609304
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, S...	ORPHA:90065
Ohdo Syndrome, X-Linked	Epicanthus, Posteriorly rotated ears, Hearing impairment, Sparse eyebrow, Seizure, Microtia, Scol...	OMIM:300895
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Ataxia, Ectropion	OMIM:275630
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short stature, Posteriorly rotated ears, Microcephaly, Bilateral ptosis, Hydrocephalus, Upslanted...	ORPHA:163979
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Coxoauricular Syndrome	Microtia, Short stature, Atresia of the external auditory canal, Hearing impairment	ORPHA:1508
Hurler Syndrome	Short stature, Progressive neurologic deterioration, Short neck, Bilateral ptosis, Hydrocephalus,...	OMIM:607014
Gm1 Gangliosidosis	Ataxia, Short stature, Bilateral tonic-clonic seizure with generalized onset, Hyperlordosis, Abno...	ORPHA:354
Winchester Syndrome	Kyphosis	OMIM:277950
Hall-Riggs Syndrome	Epicanthus, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Seizure, Scolio...	OMIM:234250
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Highly arched eyebrow, Kyphosis, Hydrocephalus, Scoliosis, Low-set ears...	OMIM:619951
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph...	OMIM:276950
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Low-se...	OMIM:615761
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Abnormal cerebral white matter morphology, Ventriculomegaly	OMIM:616299
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Decreased CSF biopterin level, Decreased CSF protein concentration, Lagophthalmos, Atheto...	ORPHA:404454
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Hypoplasia of the co...	OMIM:615665
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Seizure, Dementia, Cerebral corti...	OMIM:277400
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Microtia, Atresia of the external a...	ORPHA:1770
Cockayne Syndrome A	Basal ganglia calcification, Retinal atrophy, Ataxia, Short stature, Retinal pigment epithelial m...	OMIM:216400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Death in childhood	OMIM:214110
Cerebellofaciodental Syndrome	Short stature, Short neck, Sparse eyebrow, Hypoplasia of the pons, Microcephaly, Cerebellar hypop...	OMIM:616202
Kabuki Syndrome	Ptosis, Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Vertebral clefting, He...	ORPHA:2322
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Retinal atrophy, Short stature, Microcephaly, Inability to wal...	ORPHA:97297
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Palpebral edema, Short stature, Microcephaly, Cerebral atrophy, Impaired tandem gait, Sei...	ORPHA:99843
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Blepharophimosis, Underdeveloped tragus, Conductive hea...	OMIM:164210
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Short stature, Kyphosis, Hydrocephalus, Synophrys, Abno...	ORPHA:3042
Jacobsen Syndrome	Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Microcephaly, Hydrocephalus, Op...	OMIM:147791
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Thickened helices, Short neck, Abno...	ORPHA:1340
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Cerebral white matter atrophy, Abnormal cortical gyration, Mic...	ORPHA:521426
Orofaciodigital Syndrome Xvii	Short stature, Short neck, Low-set ears, Ventriculomegaly, Hearing impairment	OMIM:617926
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Retinal dystrophy, Dandy-Walker malformation	OMIM:614465
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomen...	ORPHA:2437
2Q31.1 Microdeletion Syndrome	Epicanthus, Ventriculomegaly, Short stature, Short neck, Microcephaly, Kyphosis, Synophrys, Optic...	ORPHA:251014
Smith-Kingsmore Syndrome	Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Perisylvian polymicrogyria, Hem...	OMIM:616638
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Epileptic spasm, Short stature, Abnormal cortical gyration, Bilate...	ORPHA:79351
49,Xxxyy Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Increased circulating gonadotropin level, Abnormal...	ORPHA:261534
Prader-Willi Syndrome Due To Translocation	Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177907
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Facial palsy, Hydrocephalus, Optic atrophy, Seizure, Fac...	OMIM:259700
Acrodysostosis 1 With Or Without Hormone Resistance	Epicanthus, Mild postnatal growth retardation, Short stature, Hydrocephalus, Optic atrophy, Spina...	OMIM:101800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Growth delay, Seizure	OMIM:614886
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Short stature, Abnormal cortical gyration, Hearing impairment, Microceph...	OMIM:311200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Synot...	ORPHA:990
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Chiari type I malformation, Ho...	OMIM:270400
Triploidy	Low-set, posteriorly rotated ears, Short neck, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of ...	ORPHA:3376
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Ventriculomegaly, Microcephaly, Sensorineural hearing impairment, Disproportionate short stature,...	ORPHA:2637
Japanese Encephalitis	Decreased motor nerve conduction velocity, Choreoathetosis, Abnormal caudate nucleus morphology, ...	ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen...	OMIM:614924
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Kagami-Ogata Syndrome	Kyphoscoliosis, Seizure, Microtia, Blepharophimosis, Short palpebral fissure	OMIM:608149
Microcephaly 27, Primary, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly, Primary...	OMIM:619180
Lowry-Maclean Syndrome	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Seizure, Lo...	ORPHA:2409
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Telecanthus, Sacral dimple, Short stature,...	ORPHA:235
Mulibrey Nanism	Short stature, Growth delay, Pigmentary retinopathy, Intrauterine growth retardation, Ventriculom...	OMIM:253250
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Short stature, Hydrocephalus, Scoliosis, Shallow orbits, Vertebral c...	OMIM:112240
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Short stature, Absent septum pellucidum, Hyperlordosis, Coronal cleft vertebrae, Attention defici...	OMIM:618870
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Pachygyria, Agenesis of corpu...	ORPHA:2308
Microcephaly-Micromelia Syndrome	Short neck, Aqueductal stenosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of th...	OMIM:251230
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec...	OMIM:613686
Kleefstra Syndrome Due To A Point Mutation	Short stature, Uplifted earlobe, Microcephaly, Abnormal cerebral white matter morphology, Seizure...	ORPHA:261652
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Meningioma	Back pain, Neoplasm of the anterior pituitary, Reduced circulating prolactin concentration, Brain...	ORPHA:2495
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus	ORPHA:2119
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Abnormal nasolacrimal system morphology, Absent septum pellucidum, Abnorm...	ORPHA:2396
Kleefstra Syndrome	Short stature, Highly arched eyebrow, Microcephaly, Chronic otitis media, Synophrys, Upslanted pa...	ORPHA:261494
Cadds	Cerebellar atrophy, Sensorineural hearing impairment, Abnormal cerebral white matter morphology, ...	ORPHA:369942
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Hypotonia, Scoliosis	ORPHA:2598
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal growth retard...	OMIM:302960
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Generalized-o...	OMIM:212065
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Cerebellar vermis hypoplasia, Gait ataxia, Ret...	OMIM:300486
1P31P32 Microdeletion Syndrome	Aplasia/Hypoplasia of the corpus callosum, Chiari type I malformation, Seizure, Attention deficit...	ORPHA:401986
Knobloch Syndrome 1	Occipital encephalocele, Myoclonic seizure, Spina bifida occulta, Attenuation of retinal blood ve...	OMIM:267750
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar dysplasia, Cerebellar atrophy, Low-set, posteriorly rotated ears, Highly arched eyebro...	ORPHA:487796
Roifman-Chitayat Syndrome	Lacrimal duct stenosis, Short neck, Optic atrophy, Generalized myoclonic seizure, Ventriculomegaly	OMIM:613328
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Neu-Laxova Syndrome 2	Ablepharon, Spina bifida, Short neck, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Scolios...	OMIM:616038
49,Xyyyy Syndrome	Low-set, posteriorly rotated ears, Increased circulating gonadotropin level, Abnormal cerebral wh...	ORPHA:99330
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Thin corpus callosum, Ventriculomegaly	OMIM:206700
Phelan-Mcdermid Syndrome	Ventriculomegaly, Epicanthus, Palpebral edema, Sacral dimple, Hearing impairment, Impaired pain s...	OMIM:606232
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Sacral dimple, Short stature, Microcephaly, Anteverted ears, Kyphos...	OMIM:610443
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypotonia, Scoliosis	ORPHA:1548
Mend Syndrome	Sacral dimple, Short stature, Posteriorly rotated ears, Kyphosis, Hydrocephalus, Upslanted palpeb...	OMIM:300960
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Absent septum pellucidum, Short neck, Microcephaly, Upslanted palpebral fissure, Abnormal cerebra...	OMIM:300868
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Optic atrophy, Dysmetria, Seizure, Dysdiad...	ORPHA:171629
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Chiari type I malformation, Blepharophi...	OMIM:601707
Baralle-Macken Syndrome	Microcephaly, Kyphosis, Focal-onset seizure, Inability to walk, Upslanted palpebral fissure	OMIM:619255
Wolf-Hirschhorn Syndrome	Periventricular cysts, Abnormal form of the vertebral bodies, Conductive hearing impairment, Cavu...	OMIM:194190
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Posteriorly rotated ears, Short neck, Microcephaly, Large fleshy ears, Platyspondyly...	OMIM:616897
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Microcephaly, Po...	OMIM:241410
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Posteriorly rotated ears, Partial agenesis of the corpus c...	OMIM:222448
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Fetal Akinesia Deformation Sequence 4	Kyphosis, Posteriorly rotated ears, Low-set ears, Short neck	OMIM:618393
Biotinidase Deficiency	Tachypnea, Apnea	OMIM:253260
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea	OMIM:615157
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Thoracic scoliosis, Short neck, Abnormal optic disc morphology, Thoracic kypho...	ORPHA:508498
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus	OMIM:259710
Semilobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Inability to ...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Inability to ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Inability to ...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Inability to ...	ORPHA:93924
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Bilateral ptosis, Synophrys, Kyphosis, Normal...	OMIM:620351
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Cerebellar hypoplasia, Temporal lobe dysplasia, Lethal short-limbed short stature,...	OMIM:187601
Carey-Fineman-Ziter Syndrome	Epicanthus, Cerebral calcification, Short stature, Facial palsy, Microcephaly, Growth delay, Scol...	ORPHA:1358
Microcephaly 30, Primary, Autosomal Recessive	Epicanthus, Uplifted earlobe, Primary microcephaly, Long palpebral fissure, Intrauterine growth r...	OMIM:620183
Joubert Syndrome 15	Retinal dystrophy, Ataxia, Exencephaly, Molar tooth sign on MRI, Retinopathy	OMIM:614464
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Microcephaly, Severe postnatal growth retardation, Seizure, Microtia, Lumbar scoli...	ORPHA:319675
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Sacral dimple, Posteriorly rotated ears, Short neck, Synophrys, Macrotia, Nasolacrima...	OMIM:613458
Histidinuria-Renal Tubular Defect Syndrome	Sensorineural hearing impairment, Macrotia, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2158
B4Galt1-Cdg	Low-set ears, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Distal 22Q11.2 Microduplication Syndrome	Epicanthus, Sacral dimple, Palpebral edema, Microcephaly, Hydrocephalus, Optic disc coloboma, Pro...	ORPHA:261337
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	OMIM:256600
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Thickened ...	ORPHA:1555
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Posteriorly rotated ears, Short neck, Microcephaly, Hydrocep...	ORPHA:1865
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal midbrain morphology, Facial pa...	ORPHA:68
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of ...	OMIM:618569
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Increased CSF lacta...	OMIM:618397
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Chiari type I malformation, Otitis media, Conductive ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Chiari type I malformation, Otitis media, Conductive ...	ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Type II lissencephaly, Microcephaly, Hydrocephalus, Optic atro...	OMIM:253280
Linear Nevus Sebaceus Syndrome	Telecanthus, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:2612
Multifocal Atrial Tachycardia	Dyspnea, Tachypnea	ORPHA:3282
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ...	OMIM:612290
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Chiari ...	OMIM:101200
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Microcephaly, Growth delay, Chiari malform...	OMIM:617784
Hypomelanosis Of Ito	Epicanthus, Microcephaly, Kyphosis, Cerebral atrophy, Seizure, Scoliosis	OMIM:300337
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Pitt-Hopkins Syndrome	Sacral dimple, Short neck, Microcephaly, Cupped ear, Gait ataxia, Upslanted palpebral fissure, Se...	OMIM:610954
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Retinal detachment...	ORPHA:94068
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Microtia, Atresia of the external auditory canal, Abnormal form of the vertebral bo...	ORPHA:3429
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Generalized-onset seizure, Short stature, Facial palsy, Microcephaly, Hydrocep...	OMIM:259720
Sweeney-Cox Syndrome	Uplifted earlobe, Cupped ear, Upper eyelid coloboma, Microtia, Cerebellar hypoplasia, Low-set ear...	OMIM:617746
Arachnoiditis	Hydrocephalus, Paresthesia, Tinnitus, Hearing impairment	ORPHA:137817
Zimmermann-Laband Syndrome 3	Kyphosis, Synophrys, Long eyelashes, Thick eyebrow	OMIM:618658
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea	OMIM:618056
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Respiratory insufficiency	OMIM:617239
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Luscan-Lumish Syndrome	Short stature, Seizure, Chiari malformation, Recurrent otitis media, Downslanted palpebral fissur...	OMIM:616831
Myotonic Dystrophy 1	Respiratory distress, Hypogonadism, Testicular atrophy	OMIM:160900
Pallister-Hall Syndrome	Short stature, Decreased response to growth hormone stimulation test, Posteriorly rotated ears, H...	OMIM:146510
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:248390
Mucopolysaccharidosis Type 1	Short stature, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Spinal canal steno...	ORPHA:579
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, Severe short stature, Microcephaly, Kyphosis, Vertebral segmen...	ORPHA:2617
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Hooded eyelid, ...	OMIM:619841
15Q24 Microdeletion Syndrome	Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Microcephaly, P...	ORPHA:94065
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Highly arched ...	OMIM:618454
Keppen-Lubinsky Syndrome	Microcephaly, Seizure, Lateral ventricle dilatation, Scoliosis, Shallow orbits, Febrile seizure (...	OMIM:614098
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Megalencephaly, Hydrocephalus, Brain stem compression, Lumbar k...	OMIM:100800
Tatton-Brown-Rahman Syndrome	Ventriculomegaly, Kyphoscoliosis, Proportionate short stature, Narrow palpebral fissure, Seizure,...	ORPHA:404443
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Hydrocephalus	ORPHA:2969
Periventricular Nodular Heterotopia 9	Epicanthus, Broad-based gait, Posteriorly rotated ears, Microcephaly, Focal-onset seizure, Synoph...	OMIM:618918
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Short stature, Microcephaly, Lower eyelid coloboma, Upper eyelid coloboma, Anotia, Mi...	OMIM:616462
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Sensorineural hearing impairment, Cerebral atrophy, Growth d...	OMIM:616084
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Short stature, Microcephaly, Sensorineural hearing impairment, Cerebell...	OMIM:616541
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Synophrys, Scoliosis, Low-set ...	OMIM:300280
Thanatophoric Dysplasia, Type I	Short neck, Hydrocephalus, Platyspondyly, Disproportionate short-limb short stature, Temporal lob...	OMIM:187600
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Telecanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Ret...	OMIM:615948
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Epicanthus, Microcephaly, Kyphosis, Synophrys, Upslanted palpebral fissure, S...	OMIM:617061
Myopathy, Centronuclear, 2	Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Intrauterine growth retardation,...	OMIM:255200
Pseudo-Torch Syndrome 1	Cerebral calcification, Microcephaly, Seizure, Lissencephaly, Cerebellar hypoplasia, Low-set ears...	OMIM:251290
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Epicanthus, Ataxia, Short stature, Reduced cerebral white matter volume, Short neck, Microcephaly...	OMIM:610442
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus, Chiari type I malformation, Growth delay, Scoliosis	OMIM:617244
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Chiari type I malformation, Seizure, Attention...	ORPHA:261197
Joubert Syndrome 37	Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Hypo...	OMIM:619185
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Retinal detachment, Abnormality of the cervical spine, Cervica...	ORPHA:2953
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Decreased nerve conduction velocity, Kyphosis, Seizure, Abnormal cerebral white ma...	OMIM:618138
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Generalized hypotonia, Scoliosis	ORPHA:75840
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Partial agenesis of the corpus callosum, Seizure, Low-set ears, Scoliosis	ORPHA:420794
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly	OMIM:617866
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Seizure, Chiari malformation, Atresia of the external auditor...	ORPHA:93259
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ventriculomegaly, Sacral dimple, Short stature, Rhizomelia, Mi...	ORPHA:709
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:141400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Short stature, Abnormal cortical gyration, Posteriorly rotated ears, Seizure, Cere...	OMIM:300968
Pontocerebellar Hypoplasia, Type 17	Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Upslanted palpebral f...	OMIM:619909
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonic seizure, Synophrys, Abnormal curvature of the vertebral column, Protruding ear,...	OMIM:619475
Necrotizing Enterocolitis	Apnea	ORPHA:391673
Recon Progeroid Syndrome	Attached earlobe, Short stature, Microcephaly, Absent lower eyelashes, Growth delay, Keratoconjun...	OMIM:620370
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Bilateral ptosis, Kyphosis, Upslanted palpebral fissure, Seizure, Downslan...	ORPHA:404440
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Cardiorespiratory arrest	OMIM:608643
Myopathy, Centronuclear, X-Linked	Severe muscular hypotonia, Facial palsy, Hydrocephalus, Neonatal hypotonia, Dandy-Walker malforma...	OMIM:310400
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Epicanthus, Short stature, Microcephaly, Simplified gyral pattern, Cerebral a...	OMIM:617729
Trisomy 20P	Low-set, posteriorly rotated ears, Epicanthus, Highly arched eyebrow, Short neck, Spina bifida, K...	ORPHA:261318
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Stridor, Aspiration, Neonatal respiratory distress, Apnea	OMIM:614653
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Kyphoscoliosis, Dysplastic corpus callosum, Kyphosis, Thick corpus callosum, Pineal cyst,...	OMIM:300967
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Respiratory insufficiency	ORPHA:367
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Ataxia, Palpebral edema, Abnormal cortical gyration, Unsteady gait, Dysmetria, Positiv...	ORPHA:314647
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Ventriculomegaly, Short stature, Microcephaly, Protruding ear,...	ORPHA:502
17Q24.2 Microdeletion Syndrome	Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Synophrys, Pinea...	ORPHA:529962
Cole-Carpenter Syndrome	Communicating hydrocephalus, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scol...	ORPHA:2050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Epicanthus, Generalized-onset seizure, Macular atrophy, Microcephaly, Growth delay, Bilateral sen...	OMIM:619418
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Mend Syndrome	Telecanthus, Sacral dimple, Short stature, Abnormal auditory evoked potentials, Kyphosis, Hydroce...	ORPHA:401973
Lhermitte-Duclos Disease	Ataxia, Hydrocephalus, Seizure, Polymicrogyria, Enlarged cerebellum	ORPHA:65285
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Protruding ear, Hypoplasia of the brainste...	ORPHA:268261
Schaaf-Yang Syndrome	Short stature, Kyphosis, Inability to walk, Seizure, Scoliosis, Low-set ears, Short palpebral fis...	OMIM:615547
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:618484
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Hydrocephalus, Hemivertebrae, Scoliosis, Low-set ears, Downslanted palpebral fissures...	OMIM:104350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Lumbar hyperlordosis, Cerebral calc...	ORPHA:505248
Opitz Gbbb Syndrome	Short attention span, Telecanthus, Short stature, Posteriorly rotated ears, Hearing impairment, A...	ORPHA:2745
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Short stature, Microcephaly, Postnatal growth retardation, Ext...	ORPHA:2323
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Ataxia, Short stature, Abnormal eyelid morphology, Kyphosis,...	ORPHA:636
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Hydranencephaly	Abnormal corpus striatum morphology, Optic nerve hypoplasia, Postnatal growth retardation, Chorio...	ORPHA:2177
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Short stature, Anterior pituitary hypoplasia, Microcephaly, Kyphosis, Protrudi...	ORPHA:464306
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Sensorineural hearing impairment, Porencephalic cyst, Platyspondyly...	OMIM:612394
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Seizure, Abnormal optic nerve morphology, M...	ORPHA:1546
Martsolf Syndrome 1	Enlarged sylvian cistern, Epicanthus, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Po...	OMIM:212720
Hurler Syndrome	Short stature, Short neck, Hydrocephalus, Spinal canal stenosis, Growth delay, Scoliosis, Abnorma...	ORPHA:93473
Neu-Laxova Syndrome	Cerebral calcification, Abnormal nasolacrimal system morphology, Absent septum pellucidum, Spina ...	ORPHA:2671
Postencephalitic Parkinsonism	Abnormal substantia nigra morphology, Camptocormia, Akinesia, Bilateral ptosis, Kyphosis, CSF lym...	ORPHA:97349
Hoyeraal-Hreidarsson Syndrome	Cerebral calcification, Ataxia, Short stature, Microcephaly, Cerebellar hypoplasia, Intrauterine ...	ORPHA:3322
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Short stature, Ovoid vertebral bodies, Abnormal pinna...	OMIM:244450
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Short neck, Cupped ear, ...	OMIM:263650
Distal Deletion 12Q	Telecanthus, Short stature, Kyphoscoliosis, Short neck, Impaired pain sensation, Microcephaly, Pi...	ORPHA:96149
Trisomy 8P	Sacral dimple, Posteriorly rotated ears, Short neck, Microcephaly, Hydrocephalus, Aplasia/Hypopla...	ORPHA:264450
Hermansky-Pudlak Syndrome 10	Apnea	OMIM:617050
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Curly eyelashes, Microcephaly, Sensorineural hearing impairment, Uns...	OMIM:301022
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Seizure, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:615182
Fanconi Anemia, Complementation Group D2	Short stature, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Attention deficit ...	OMIM:227646
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis	OMIM:130060
Hajdu-Cheney Syndrome	Epicanthus, Telecanthus, Short stature, Kyphoscoliosis, Short neck, Hydrocephalus, Synophrys, Tal...	OMIM:102500
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Cupped ear, Lacrimal duct atresia, Lacrimal duct aplasia, Microtia, Conj...	OMIM:620192
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Infantile spasms, Chorea, Cerebral edema, Cerebral atrophy, Gait ataxia, Abnormal cerebra...	OMIM:618321
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Abnormal nasolacrimal system morphology, Facial palsy, Absent septum pelluc...	ORPHA:2658
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Retinal dystrophy, Lateral ventricle dilatation, Platyspondyly, Pac...	OMIM:263520
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Synophrys, Sensorineural hearing impairment, Long eyelashes,...	OMIM:616455
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Abnormal...	ORPHA:3455
Myhre Syndrome	Vertebral fusion, Ataxia, Short stature, Short neck, Microcephaly, Birth length less than 3rd per...	OMIM:139210
Oxoglutaric Aciduria	Hydrocephalus, Ataxia, Short stature	ORPHA:31
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Congenital kyphoscoliosis, Posteriorly rotated ears, Ovoid vertebral bo...	ORPHA:536467
Ayme-Gripp Syndrome	Short stature, Posteriorly rotated ears, Hearing impairment, Sensorineural hearing impairment, Ce...	OMIM:601088
Branchiooculofacial Syndrome	Short neck, Conductive hearing impairment, Hypoplastic superior helix, Agenesis of cerebellar ver...	OMIM:113620
Acrofacial Dysostosis 1, Nager Type	Abnormality of the cervical spine, Sparse lower eyelashes, Aganglionic megacolon, Short stature, ...	OMIM:154400
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Kyphosis, Hypotonia, Angioid streaks of the fundus, Retinopathy, Retinal degeneration	OMIM:239000
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Thick eyebrow, Multifocal seizures, Decreased response to growth hormone stimulation ...	ORPHA:488632
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Optic atrophy, Absence of acoustic reflex,...	ORPHA:79323
Joubert Syndrome 27	Molar tooth sign on MRI, Retinopathy, Ataxia, Gait ataxia	OMIM:617120
Muenke Syndrome	Hydrocephalus, Sensorineural hearing impairment, Ptosis	ORPHA:53271
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Short neck, Microcephaly, Hydrocephalus, Anenc...	OMIM:249000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Hydrocephalus, Ch...	OMIM:182212
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Short stature, Microcephaly, Kyphosis, Limb ataxia, Gait ataxia, Scol...	OMIM:248800
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Fryns Syndrome	Low-set, posteriorly rotated ears, Aganglionic megacolon, Short neck, Seizure, Dandy-Walker malfo...	ORPHA:2059
Choreoacanthocytosis	Bradyphrenia, Short attention span, Impaired vibratory sensation, Caudate atrophy, Bilateral toni...	ORPHA:2388
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Hearing impairment, Optic atrophy, Cerebral atrophy, Seizure, Low-set ears, Intrauter...	OMIM:618164
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Cupped ear, Lacrimal duct aplasia, Microti...	OMIM:620193
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized...	ORPHA:2072
Fountain Syndrome	Epicanthus, Short stature, Spina bifida, Kyphosis, Synophrys, Sensorineural hearing impairment, A...	ORPHA:3219
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short stature, Anterior vertebral fusion, Microtia, Conductive hearing impairment, Stenosis of th...	OMIM:171480
Marshall-Smith Syndrome	Optic atrophy, Cerebellar hypoplasia, Scoliosis, Conductive hearing impairment, Ventriculomegaly	ORPHA:561
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Short stature, Hyperlordosis, Microcephaly, Kyphosis, External...	ORPHA:568
Orofaciodigital Syndrome Vi	Epicanthus, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Conductive hea...	OMIM:277170
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microtia	ORPHA:2547
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Tachypnea, Death in infancy	OMIM:201475
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Cortical dyspl...	OMIM:613406
Primary Ciliary Dyskinesia	Hydrocephalus, Recurrent otitis media, Conductive hearing impairment, Rod-cone dystrophy, Chronic...	ORPHA:244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Congenital Myopathy 13	Telecanthus, Ventriculomegaly, Short stature, Kyphoscoliosis, Microcephaly, Conductive hearing im...	OMIM:255995
Diastrophic Dysplasia	Low-set, posteriorly rotated ears, Cerebral calcification, Kyphosis, Abnormal form of the vertebr...	ORPHA:628
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Short stature, Hypoplasia of the pons, Sensorineural hearing impairment, Cere...	OMIM:616430
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Microcephaly, Hypoplasia of the pons, Growth delay, Cerebellar hypoplasia, ...	ORPHA:88618
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Hypoplastic sacrum, Rhizomelia, Posteriorly rotated ears, Microcephaly, Growth del...	OMIM:614813
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Abnormal eyelid morp...	ORPHA:193
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Facial palsy, Lagophthalmos, Spinal rigidity, Microcephaly, Sensorineural hearing imp...	OMIM:254940
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok...	ORPHA:485421
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Scoliosis	OMIM:177850
Auriculocondylar Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, Hearing impairment, Ex...	ORPHA:137888
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Microcephaly, Upslanted palpebral fissure, Growth delay, Seizure, Long pal...	OMIM:614749
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Posteriorly rotated ears, Microcephaly, Abnormal form o...	ORPHA:2462
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cherry red ...	OMIM:230500
Meier-Gorlin Syndrome 6	Entropion, Severe short stature, Decreased response to growth hormone stimulation test, Posterior...	OMIM:616835
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:508093
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Coach Syndrome 1	Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, ...	OMIM:216360
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death	OMIM:231680
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Townes-Brocks Syndrome	Short stature, Blepharophimosis, External ear malformation, Abnormal tragus morphology, Chiari ma...	ORPHA:857
Isolated Atp Synthase Deficiency	Respiratory distress, Hypogonadism	ORPHA:254913
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Thoracic scoliosis, Short stature, Facial palsy, Mixed hearing impairment, Progressiv...	OMIM:620186
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure, Cerebral dysmyelination, Decrease...	OMIM:261515
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulat...	ORPHA:506358
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Seizure, Vertebral segmentation defect, Abnormal helix morphology, Ventriculomegaly	ORPHA:1120
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Vici Syndrome	Macular atrophy, Ocular albinism, Macular hypoplasia, Abnormal posturing, Hypopigmentation of the...	OMIM:242840
Citrullinemia Type I	Tachypnea	ORPHA:247525
Kagami-Ogata Syndrome	Kyphoscoliosis, Short neck, Postnatal growth retardation, Seizure, Microtia, Blepharophimosis	ORPHA:254519
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Microcephaly, ...	OMIM:615084
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Microcephaly, Seizure, Hypoplasia of the corpus callosum, Primary microcephaly, Ventriculomegaly,...	ORPHA:404473
Malan Syndrome	Scoliosis, Downslanted palpebral fissures, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:614753
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:181405
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Abnormality of the palpebral fissures, Low-set ears, Scoliosis	ORPHA:178148
Baller-Gerold Syndrome	Epicanthus, Severe short stature, Short stature, Optic nerve hypoplasia, Mixed hearing impairment...	OMIM:218600
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Short neck, Hydrocephalus, Shallow orbits, Neonatal short-li...	OMIM:224400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Short stature, Microcephaly, Neuronal loss in the cerebral cortex, Se...	OMIM:301072
Glass Syndrome	Apnea	OMIM:612313
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria	OMIM:619708
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short stature, Short neck, Kyphosis, Aplasia/Hypoplasia of the earlobes, Upslanted palpebral fiss...	ORPHA:3082
Cockayne Syndrome Type 2	Ataxia, Kyphosis, Conjunctivitis, Gait disturbance, Scoliosis, Difficulty walking, Intrauterine g...	ORPHA:90322
Plasminogen Deficiency, Type I	Hydrocephalus, Conjunctivitis, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal...	OMIM:607155
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Moebius Syndrome	Respiratory distress, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Apnea	ORPHA:20
Lateral Meningocele Syndrome	Epicanthus, Posteriorly rotated ears, Short neck, Hyperlordosis, Kyphosis, Abnormality of the mid...	ORPHA:2789
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Severe short stature, Microcephaly, Kyphosis, Moderate postnat...	ORPHA:1005
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Chiari type I malformation, ...	ORPHA:261537
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Sparse or absent eyelashes, Macrotia, Hypoplasia of the ear cartilage	ORPHA:113
Familial Multiple Lipomatosis	Cerebral calcification, Chorioretinitis, Seizure, Hypoplasia of the corpus callosum, Ventriculome...	ORPHA:199276
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Fused cervical vertebrae, Low-s...	ORPHA:2522
Slc39A8-Cdg	Cerebellar atrophy, Short stature, Inability to walk, Increased CSF lactate, Seizure, Disproporti...	ORPHA:468699
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Ventriculomegaly, Short stature, Posteriorly rotated ears, Hearing impairment, Microcephaly, Cupp...	OMIM:309590
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Retinal arteriolar ...	ORPHA:191
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea	ORPHA:2754
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Impaired temperature sensation, Almond-shaped palpebral fissure, Kyphosis, Seizure...	ORPHA:398069
Meier-Gorlin Syndrome 7	Short stature, Sensorineural hearing impairment, Chiari type I malformation, Growth delay, Verteb...	OMIM:617063
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Generalized-onset seizure, Microcephaly, Increased intervert...	ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 57	Telecanthus, Epicanthus, Short stature, Posteriorly rotated ears, Microcephaly, Kyphosis, Upslant...	OMIM:618050
Kinsship Syndrome	Sacral dimple, Short stature, Bilateral tonic-clonic seizure, Short neck, Microcephaly, Focal-ons...	OMIM:619297
Cockayne Syndrome B	Severe short stature, Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Mic...	OMIM:133540
Meier-Gorlin Syndrome 4	Short stature, Microcephaly, Birth length less than 3rd percentile, Microtia, Low-set ears, Intra...	OMIM:613804
Genitopatellar Syndrome	Apnea	ORPHA:85201
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy	OMIM:601559
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, C...	ORPHA:1435
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk, Retinopathy	OMIM:614970
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Cockayne Syndrome Type 3	Cerebral white matter atrophy, Mild postnatal growth retardation, Progressive neurologic deterior...	ORPHA:90324
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Microcephaly, Narrow...	OMIM:618371
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea	ORPHA:466722
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Mohr-Tranebjaerg Syndrome	Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno...	ORPHA:52368
Craniofacioskeletal Syndrome	Short stature, Posteriorly rotated ears, Microcephaly, Microtia, Cerebellar hypoplasia, Blepharop...	OMIM:300712
Meier-Gorlin Syndrome 1	Microcephaly, Hemivertebrae, Birth length less than 3rd percentile, Microtia, Long eyelashes, Atr...	OMIM:224690
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Seizure, Cerebellar malformation, Agenesis of corpus callosum	ORPHA:137675
Faundes-Banka Syndrome	Epicanthus, Conductive hearing impairment, Cupped ear, Hypoplasia of the lower eyelids, Microtia,...	OMIM:619376
Raine Syndrome	Mixed hearing impairment, Cerebral calcification, Short stature, Posteriorly rotated ears, Highly...	OMIM:259775
Mohr Syndrome	Telecanthus, Short stature, Hydrocephalus, Porencephalic cyst, Scoliosis, Conductive hearing impa...	OMIM:252100
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu...	OMIM:609583
Gapo Syndrome	Epicanthus, Sparse eyelashes, Facial palsy, Sparse eyebrow, Retinal arteriolar tortuosity, Optic ...	OMIM:230740
Atelis Syndrome 2	Epicanthus, Sacral dimple, Remnants of the hyaloid vascular system, Microcephaly, Kyphosis, Dysme...	OMIM:620185
Ventriculomegaly With Cystic Kidney Disease	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:219730
Basal Cell Nevus Syndrome 2	Vertigo, Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Seizure, Scoliosis, Progressive microcephaly	ORPHA:79327
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Kyphosis, Hydrocephalus, Keratoconjunctivitis sicca, Intrauterine ...	OMIM:616914
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Short stature, Rhizomelia, Highly arched eyebrow, Short neck...	OMIM:143095
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Microcephaly, Growth delay, Microtia, Low-set ears	ORPHA:1439
Meier-Gorlin Syndrome 5	Short stature, Microcephaly, Birth length less than 3rd percentile, Microtia, Low-set ears, Intra...	OMIM:613805
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Ptosis	OMIM:212112
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis, Neonatal hypotonia	ORPHA:536516
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Broad-based gait, Short stature, Short neck, Microcephaly, Kyphosis, Synophrys, Abnor...	ORPHA:85293
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephaly, Postnatal growth retardation, Disproportionate short stature, Upslanted palpebral f...	OMIM:210720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Epicanthus, Peripheral retinal avascularization, Short stature, Posteriorly rotated ears, Kyphosc...	ORPHA:96334
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Seizure, Chiari malformation, Low-set ears, Stenosis of the external auditor...	ORPHA:93260
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Retinal dyst...	OMIM:243910
Codas Syndrome	Short stature, Hypoplasia of the odontoid process, Sensorineural hearing impairment, Coronal clef...	OMIM:600373
Pancreatic And Cerebellar Agenesis	Death in infancy, Apnea	OMIM:609069
Wiedemann-Rautenstrauch Syndrome	Short neck, Small earlobe, Agenesis of corpus callosum, Dandy-Walker malformation, Absent eyebrow...	OMIM:264090
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Megalocornea-Intellectual Disability Syndrome	Epicanthus, Ataxia, Short stature, Microcephaly, Kyphosis, Sensorineural hearing impairment, Prot...	ORPHA:2479
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Palpebral edema, Lacrimal duct stenosis, Optic nerve hypoplasia, Hyperlordosis, Dermatoch...	ORPHA:221139
Acute Bilirubin Encephalopathy	Central apnea	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea	ORPHA:529808
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re...	ORPHA:168491
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Seizure, Short stature, Scoliosis	ORPHA:1858
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Decreased response to growth hormone stimulation test, Microcephaly...	OMIM:603467
Joubert Syndrome 21	Dyspnea, Respiratory failure, Chronic sinusitis, Apnea	OMIM:615636
Alg12-Cdg	Retinal detachment, Epicanthus, Abnormal pinna morphology, Sensorineural hearing impairment, Seiz...	ORPHA:79324
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Tetraploidy	Intrauterine growth retardation, Hypoplasia of the ear cartilage, Chiari malformation, Microcephaly	ORPHA:3305
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegi...	ORPHA:171436
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Epicanthus, Ataxia, Anterior pituitary hypoplasia, Kyphoscoliosis, Dysplastic corpus callosum, Up...	ORPHA:466791
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Epicanthus, Microtia, Short stature, Low-set ears	OMIM:277380
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Chiari type I malformation, ...	ORPHA:261552
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Rodrigues Blindness	Nasal flaring	OMIM:268320
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Seizure, Generalized-onset seizure, Status epilepticus, Ventriculomegaly	OMIM:618314
Coffin-Siris Syndrome 12	Synophrys, Protruding ear, Hippocampal atrophy, Simple ear, Short stature, Facial palsy, Highly a...	OMIM:619325
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Urban-Rogers-Meyer Syndrome	Epicanthus, Short stature, Short neck, Kyphosis, Aplasia/Hypoplasia of the earlobes, Upslanted pa...	ORPHA:3409
Icf Syndrome	Communicating hydrocephalus, Epicanthus, Short stature, Low-set ears	ORPHA:2268
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Scoliosis, Ventriculomegaly	ORPHA:589821
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Hypotonia, Scoliosis	OMIM:300676
Meier-Gorlin Syndrome 3	Short stature, Posteriorly rotated ears, Microcephaly, Birth length less than 3rd percentile, Mic...	OMIM:613803
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Microcephaly, Large earlobe, Seizure, Scoliosis, Hypoplasia of the ear cartilage, Co...	ORPHA:1236
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Low-set ears, Hearing impairment	ORPHA:93258
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Microcephaly, Short neck, Kyphosis, Seizure, Low-set ears	OMIM:608776
Meier-Gorlin Syndrome 2	Short stature, Abnormal pinna morphology, Microcephaly, Birth length less than 3rd percentile, Mi...	OMIM:613800
Cardiocranial Syndrome, Pfeiffer Type	Episodic tachypnea	ORPHA:2872
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of corpus call...	ORPHA:2273
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Cortical dysplasia, Typical absence seizure, Upslanted palpebral fissure, Seizure, Hypoplasia of ...	OMIM:618343
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Short stature, Optic nerve hypoplasia, Anterior pituitary ...	OMIM:206900
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Optic atrophy, Seizure, Cognitive impai...	OMIM:610505
Diamond-Blackfan Anemia 10	Short stature, Posteriorly rotated ears, Growth delay, Microtia, Atresia of the external auditory...	OMIM:613309
Joubert Syndrome 40	Almond-shaped palpebral fissure, Optic nerve hypoplasia, Molar tooth sign on MRI	OMIM:619582
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Ataxia, Pigmentary retinopathy, Molar tooth sign on M...	OMIM:612291
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Short attention span, Papilledema, Abnormality of retinal pigmentati...	ORPHA:580
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Short attention span, Optic disc pallor, Cerebellar atrophy, Ataxia,...	ORPHA:309282
Macrocephaly, Benign Familial	Ventriculomegaly	OMIM:153470
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Microcephaly, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:3098
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation, Downslanted palpebral fissures, Shallow orbits	OMIM:101600
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Septo-optic dysplasia, Decreased r...	ORPHA:95494
Smith-Lemli-Opitz Syndrome	Short neck, Abnormal form of the vertebral bodies, Holoprosencephaly, Aplasia/Hypoplasia of the c...	ORPHA:818
Saul-Wilson Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the odontoid process, Sensorineural he...	OMIM:618150
Ruvalcaba Syndrome	Microcephaly, Kyphosis, Seizure, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphol...	ORPHA:3121
Microtia-Anotia	Microtia, Anotia, Holoprosencephaly	OMIM:600674
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Pallister-Hall Syndrome	Gonadotropin deficiency, Hemivertebrae, Panhypopituitarism, Holoprosencephaly, Low-set, posterior...	ORPHA:672
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria, Ataxia	OMIM:617757
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Seizure, Focal impaired awareness se...	OMIM:620306
Xfe Progeroid Syndrome	Severe short stature, Hearing impairment, Microcephaly, Optic atrophy, Scoliosis, Ventriculomegal...	OMIM:610965
Mowat-Wilson Syndrome	Ventriculomegaly, Aganglionic megacolon, Short stature, Uplifted earlobe, Microcephaly, Aplasia/H...	OMIM:235730
Maternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Rod-cone dystrophy, Ventriculomegaly	ORPHA:96181
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hyperlordosis, Hydrocephalus, Absent vertebra, Myelomeni...	ORPHA:63259
Menke-Hennekam Syndrome 1	Short ear, Prominent inferior crus of antihelix, Epicanthus, Telecanthus, Thick eyebrow, Hearing ...	OMIM:618332
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ...	ORPHA:2878
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Telecanthus, Hearing impairment	OMIM:601499
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of ...	OMIM:253200
Hartsfield Syndrome	Epicanthus, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, M...	OMIM:615465
Large Congenital Melanocytic Nevus	Seizure, Hydrocephalus	ORPHA:626
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Hypotonia, Retinal calcification, Exudative retinopathy, Platyspondyly,...	OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Hyperventilation	OMIM:617799
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Multifocal seizures, Uplifted earlobe, Myoclonic seizure, Scoliosis, Hooded upper ey...	OMIM:618548
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Epicanthus, Posteriorly rotated ears, Short neck, Prominent crus of helix, Kyph...	OMIM:619194
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Xp21 Deletion Syndrome	Apneic episodes in infancy	ORPHA:261476
Coronary Arterial Fistula	Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea	ORPHA:2041
Mirage Syndrome	Short stature, Hydrocephalus, Seizure, Scoliosis, Intrauterine growth retardation	OMIM:617053
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Optic atrophy	OMIM:616875
Gracile Bone Dysplasia	Seizure, Hydrocephalus, Short stature	OMIM:602361
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Mixed hearing impairment, Abnormal pinna morphol...	ORPHA:2363
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal pinna morphology, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia,...	ORPHA:90652
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Genitopatellar Syndrome	Microcephaly, Agenesis of corpus callosum, Colpocephaly, Scoliosis, Pachygyria, Downslanted palpe...	OMIM:606170
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Short neck, Conductive hearing impairment, Chronic otitis media, Smal...	ORPHA:567
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Alpha-Mannosidosis	Short neck, Kyphosis, Abnormal helix morphology, Scoliosis, Chronic otitis media, Macrotia, Heari...	ORPHA:61
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Seizure, Periventricular leukomalacia	ORPHA:974
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Protruding ear, Small ear...	OMIM:216340
Combined Oxidative Phosphorylation Deficiency 55	Epicanthus, Short stature, Microcephaly, Bilateral ptosis, Focal-onset seizure, Thin corpus callo...	OMIM:619743
Whipple Disease	Seizure, Hydrocephalus, Ataxia, Myoclonus	ORPHA:3452
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Short neck, Kyphosis, Scoliosis	ORPHA:3191
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:314390
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Prader-Willi Syndrome	Short stature, Decreased response to growth hormone stimulation test, Impaired pain sensation, Al...	OMIM:176270
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc...	ORPHA:98855
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Absent septum pellucidum, Anteverted ears, Growth delay, Holoprosencephaly, Chorioret...	OMIM:613884
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Epicanthus	ORPHA:2184
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Tip-toe gait, Gai...	ORPHA:98863
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Sim1-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Almond-shaped palpebral fissure, Seizure, Chorioretinal hypopigme...	ORPHA:398079
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, Inab...	OMIM:620066
Short-Rib Thoracic Dysplasia 12	Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Short neck, Hydrocephalus, Anenc...	OMIM:269860
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea	ORPHA:17
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Short stature, Short ...	ORPHA:2311
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Microcephaly, Kyphosis, Ptosis	ORPHA:352447
Isolated Sedoheptulokinase Deficiency	Short stature, Severe postnatal growth retardation, Subcortical cerebral atrophy, Shallow orbits,...	ORPHA:440713
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Conductive hearing impairme...	ORPHA:466943
Treacher-Collins Syndrome	Encephalocele, Absent eyelashes, Blepharospasm, Eyelid coloboma, Abnormality of the vertebral col...	ORPHA:861
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis, Low-set ears,...	ORPHA:140
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short stature, Highly arched eyebrow, Microcephaly, Short neck, Hearing impairment, Microtia, Int...	ORPHA:2282
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the corpu...	ORPHA:1512
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Lower limb dysmetria, Short stature, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Pr...	ORPHA:363700
Trichohepatoenteric Syndrome 1	Short stature, Microtia, Cognitive impairment, Low-set ears, Intrauterine growth retardation, Dow...	OMIM:222470
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy	ORPHA:800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Telecanthus, Short stature	ORPHA:1064
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Growth ...	OMIM:252160
Frank-Ter Haar Syndrome	Kyphosis, Protruding ear, Scoliosis, Beaking of vertebral bodies, Downslanted palpebral fissures	ORPHA:137834
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Short stature, Generalized myoclonic seizure, Kyphoscoliosis, Megalencephaly, ...	ORPHA:3063
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp...	OMIM:253010
Angiostrongyliasis	Ventriculomegaly, CSF pleocytosis, Seizure, Paresthesia, Hyperesthesia, Cerebral edema	ORPHA:74
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Microcephaly, Hydrocephalus, Sensorineural hearing impairmen...	OMIM:107480
Hajdu-Cheney Syndrome	Telecanthus, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus...	ORPHA:955
Neu-Laxova Syndrome 1	Ablepharon, Spina bifida, Short neck, Absent eyelashes, Macrotia, Choroid plexus cyst, Lissenceph...	OMIM:256520
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Short stature, Microcephaly, Kyphosis, Inability to walk, Unsteady gait, Optic atrophy, Seizure, ...	OMIM:618493
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Epicanthus, Thick eyebrow, Posteriorly rotated ears, Bilateral tonic-clonic seizure, Simple febri...	ORPHA:466950
Charge Syndrome	Mixed hearing impairment, Facial palsy, Decreased response to growth hormone stimulation test, Mi...	OMIM:214800
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Epicanthus, Thoracic scoliosis, Cervical kyphosis, Kyphoscoli...	OMIM:114290
Crisponi Syndrome	Kyphosis, Seizure, Scoliosis, Cognitive impairment	ORPHA:1545
Aicardi-Goutières Syndrome	Cerebral calcification, Short stature, Microcephaly, Porencephalic cyst, Chronic CSF lymphocytosi...	ORPHA:51
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Spina bifida, Hydrocephalus, Orbital cyst, Hemivertebrae, Verte...	OMIM:109400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Seizure, Secondary microcephaly,...	ORPHA:476126
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia, Ptosis	OMIM:619113
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Microcephaly, Aplasia/Hypoplasia of...	ORPHA:1052
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati...	ORPHA:141099
Prader-Willi Syndrome	Short stature, Decreased response to growth hormone stimulation test, Impaired temperature sensat...	ORPHA:739
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Epicanthus, Ataxia, Retinal dystrophy, Short stature, Short neck, Microcephaly, Rhizomelia, Poste...	OMIM:266920
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Hypoplasia of eyelid, Optic nerve hypoplasia, Microcephaly, Short stature, Hyd...	OMIM:619321
Clark-Baraitser syndrome	Kyphosis, Seizure, Downslanted palpebral fissures, Scoliosis	OMIM:300602
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Trisomy 9P	Sacral dimple, Short neck, Microcephaly, Kyphosis, Protruding ear, Scoliosis, Macrotia, Downslant...	ORPHA:236
Seckel Syndrome 9	Short stature, Microcephaly, Simplified gyral pattern, Protruding ear, Intrauterine growth retard...	OMIM:616777
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Seizure, Scoliosis, Lisch nodules	OMIM:162200
Mosaic Trisomy 9	Spina bifida, Short neck, Microcephaly, Hemivertebrae, Upslanted palpebral fissure, Scoliosis, Lo...	ORPHA:99776
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:480898
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Low-set ears, Apl...	ORPHA:563612
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Short stature, Posteriorly rotated ears, Microcephaly, Growth delay, Nar...	OMIM:619522
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc...	ORPHA:98853
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Short stature, Kyphosis, Aplasia/Hypoplasia of the earlobes, Hemive...	ORPHA:2916
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears	ORPHA:1237
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e...	OMIM:601455
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Abnormality of the orbital region, Seizure, Retinal vascula...	ORPHA:42775
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Neonatal hypotonia	OMIM:254090
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:617303
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Microcephaly, Abnormal Eustachian tube morpholo...	ORPHA:513456
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Intercrural pterygium, Conductive hearing impairment, Pterygium, Short stature, Thora...	OMIM:265000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chi...	ORPHA:268810
Fetal Akinesia Deformation Sequence 1	Telecanthus, Posteriorly rotated ears, Absent septum pellucidum, Short neck, Hydrocephalus, Cereb...	OMIM:208150
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperventilation	OMIM:253270
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Osteogenesis Imperfecta	Cervical kyphosis, Abnormal form of the vertebral bodies, Brain stem compression, Loss of ambulat...	ORPHA:666
Gaucher Disease	Ventriculomegaly, Ataxia, Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Delayed p...	ORPHA:355
Rh Deficiency Syndrome	Hypoxemia, Tachypnea, Miscarriage	ORPHA:71275
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Epicanthus, Short stature, Posteriorly rotated ears, Kyphoscoliosis, Short neck, Microcephaly, Se...	OMIM:309580
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Abnormality of retinal pigmentation, Scoliosis	ORPHA:1969
Coffin-Siris Syndrome 1	Partial agenesis of the corpus callosum, Gait ataxia, Spina bifida occulta, Dandy-Walker malforma...	OMIM:135900
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Epicanthus, Abnormal pinna morphology, Anteverted ears, Growth delay, Microtia, Low-set ears, Thi...	OMIM:617641
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Pulmonary arterial hypertension	ORPHA:363705
46,Xy Sex Reversal 4	Upslanted palpebral fissure, Sensorineural hearing impairment, Microtia, Recurrent otitis media	OMIM:154230
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Abnormal pinna morphology, Abnormal cortical gyration, Microcephal...	OMIM:219000
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Posteriorly rotated ears, Proportionate short stature, Microtia, Long palpebral...	OMIM:227330
Distal Deletion 6P	Epicanthus, Vertebral segmentation defect, Scoliosis, Low-set ears, Downslanted palpebral fissure...	ORPHA:96125
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia	OMIM:607143
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Fanconi Anemia	Ventriculomegaly, Epicanthus, Aganglionic megacolon, Short stature, Spina bifida, Abnormal eyelid...	ORPHA:84
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Coccidioidomycosis	Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Seizur...	ORPHA:228123
15Q14 Microdeletion Syndrome	Short stature, Microcephaly, Kyphosis, Seizure, Low-set ears, Scoliosis	ORPHA:261190
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal form of the vertebral bodies, Ventriculomegaly, Shallow or...	ORPHA:73230
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:480880
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Cholera	Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation	ORPHA:173
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Death in childhood	OMIM:614457
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Sparse eyelashes, Decreased response to growth hormone stimulation test, Microcephal...	OMIM:129900
Tarp Syndrome	Apnea	ORPHA:2886
Yunis-Varon Syndrome	Sparse eyelashes, Short stature, Abnormal pinna morphology, Sparse eyebrow, Postnatal growth reta...	ORPHA:3472
Townes-Brocks Syndrome 2	Cupped ear, Microtia, Scoliosis, Overfolded helix, Spina bifida occulta	OMIM:617466
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Short stature, Hydrocephalus, Opt...	ORPHA:1106
Desbuquois Dysplasia 1	Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Growth delay, Platyspon...	OMIM:251450
Costello Syndrome	Epicanthus, Short stature, Posteriorly rotated ears, Short neck, Hydrocephalus, Enlarged cerebell...	OMIM:218040
Mucopolysaccharidosis Type 4	Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait di...	ORPHA:582
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Simplified gyral pattern, Protruding ear, Athetosis, Seizure, Scoliosis, Hypopl...	OMIM:613454
Scalp-Ear-Nipple Syndrome	Telecanthus, Palpebral edema, Underdeveloped antitragus, Abnormal antihelix morphology, Eyelid co...	ORPHA:2036
Tuberous Sclerosis Complex	Epileptic spasm, Retinal astrocytic hamartoma, Infantile spasms, Retinal hamartoma, Focal-onset s...	ORPHA:805
Ring Chromosome 7 Syndrome	Unilateral ptosis, Epicanthus, Short stature, Highly arched eyebrow, Microcephaly, Prominent crus...	ORPHA:1449
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Kyphosis, Sensorineural hearing impairment, Scoliosis, Cognitive impairment	ORPHA:1883
Harrod Syndrome	Microcephaly, Kyphosis, Protruding ear, Seizure, Scoliosis, Intrauterine growth retardation, Cere...	ORPHA:2115
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Ventriculomegaly	OMIM:618052
Cowden Syndrome 5	Kyphosis, Angioid streaks of the fundus, Scoliosis	OMIM:615108
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Hypoplasia of the antihelix, Highly...	ORPHA:221120
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microcephaly, Severe postnatal growth retardation, Microtia, Low-set ears, Blepharophimosis, Intr...	OMIM:620005
Joubert Syndrome 38	Epicanthus, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to grow...	OMIM:619476
Bilateral Perisylvian Polymicrogyria	Aspiration, Apnea	ORPHA:98889
Fraser Syndrome 3	Hydrocephalus, Cryptophthalmos, Low-set ears, Simple ear	OMIM:617667
Mgat2-Cdg	Low-set, posteriorly rotated ears, Posteriorly rotated ears, Infantile spasms, Kyphosis, Abnormal...	ORPHA:79329
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Alstrom Syndrome	Cone/cone-rod dystrophy, Kyphosis, Pigmentary retinopathy, Scoliosis	OMIM:203800
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Barber-Say Syndrome	Telecanthus, Sparse eyelashes, Extra concha fold, Hearing impairment, Sparse eyebrow, Epiblepharo...	OMIM:209885
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Stenosis of the external auditory canal, Hydrocephalus, Abnormal pinna morphology	OMIM:207410
H Syndrome	Abnormal eyebrow morphology, Short stature, Hydrocephalus, Upper eyelid edema, Delayed puberty, H...	ORPHA:168569
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Spondyloepimetaphyseal Dysplasia, Krakow Type	Seizure, Hydrocephalus, Chiari malformation, Rhizomelia	OMIM:618162
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Hydrocephalus, Myelomeningocele, Meni...	OMIM:600145
Treacher Collins Syndrome 2	Lower eyelid coloboma, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impair...	OMIM:613717
Ear-Patella-Short Stature Syndrome	Severe short stature, Microtia, third degree, Posteriorly rotated ears, Microcephaly, Growth dela...	ORPHA:2554
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Postnatal growth retardation, Low-set ears, Downslanted palpebral fissures, Ventricul...	ORPHA:1655
Unilateral Polymicrogyria	Apnea, Epistaxis	ORPHA:268943
Lymphangioleiomyomatosis	Retinal hamartoma, Hydrocephalus, Optic atrophy, Seizure, Cognitive impairment	ORPHA:538
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Tachypnea	ORPHA:860
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Hyperventilation	ORPHA:522077
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Cowden Syndrome 6	Kyphosis, Angioid streaks of the fundus, Scoliosis	OMIM:615109
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Absent eyelashes, Growth delay, Microtia, Atresia of the external aud...	ORPHA:920
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Scoliosis	ORPHA:1335
Hyperparathyroidism, Neonatal Severe	Dyspnea, Tachypnea	OMIM:239200
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Microphthalmia, Syndromic 6	Retinal dystrophy, Posteriorly rotated ears, Uplifted earlobe, Microcephaly, Orbital cyst, Aplasi...	OMIM:607932
Atrial Septal Defect, Ostium Primum Type	Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria...	ORPHA:99106
Hand-Foot-Genital Syndrome	Sacral dimple, Microtia	ORPHA:2438
Coffin-Lowry Syndrome	Telecanthus, Ventriculomegaly, Short stature, Highly arched eyebrow, Microcephaly, Kyphosis, Sens...	OMIM:303600
Meckel Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Abnormal chorioretinal morphology, Microcephaly...	ORPHA:564
Ramon Syndrome	Kyphosis, Pigmentary retinopathy, Optic disc pallor, Scoliosis	OMIM:266270
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Focal cortical dysplasia, Schizencephaly, Retinal arteriolar tortuosity, Foca...	OMIM:175780
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Epicanthus, Short stature, Kyphosis, Synophrys, Bilateral ptosis, Protruding ear, Growth delay, S...	OMIM:619557
3M Syndrome	Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Protruding ear, S...	ORPHA:2616
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Focal Dermal Hypoplasia	Mixed hearing impairment, Short stature, Microcephaly, Hydrocephalus, Myelomeningocele, Optic atr...	OMIM:305600
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia...	ORPHA:2166
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Kyphosis, Seizure, Recurrent otitis media, Mild short stature	OMIM:169400
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Synophrys, Sensorineural hearing impairment, Abnormal cranial nerve morphology, Aplasia of the in...	ORPHA:90024
Diamond-Blackfan Anemia	Epicanthus, Short stature, Microcephaly, Short neck, Growth delay, Microtia, Low-set ears, Ptosis	ORPHA:124
Warburg-Cinotti Syndrome	Epicanthus, Retinal dystrophy, Symblepharon, Posteriorly rotated ears, Conductive hearing impairm...	OMIM:618175
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Sparse eyelashes, Decreased response to growth hormone stimulation test, Lacr...	OMIM:604292
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Hydrolethalus Syndrome 1	Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Sev...	OMIM:236680
Ogden Syndrome	Aspiration, Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect	OMIM:300855
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Impaired pain sensation, Kyphosis, Seizure, Extra-axial cerebrospinal flui...	OMIM:619005
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Schinzel-Giedion Syndrome	Short neck, Chiari type I malformation, Shallow orbits, Abnormal cochlea morphology, Seizure, Sco...	ORPHA:798
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, Congenital sensorineural hearing impairment, Cerebral edema, Ven...	OMIM:619355
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Cerebral atrophy, Growth delay, Seizure, Hypoplasia of the corpus callosum, Myoclon...	OMIM:252150
Pycnodysostosis	Rhizomelia, Decreased response to growth hormone stimulation test, Cerebral dysmyelination, Hyper...	ORPHA:763
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Downslanted palpebral fissures, Ventriculomegaly, Short neck	OMIM:235255
Tetrasomy 9P	Epicanthus, Sacral dimple, Abnormal chorioretinal morphology, Glue ear, Short neck, Hydrocephalus...	ORPHA:3310
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv...	ORPHA:573278
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Apnea, Chronic rhinitis	ORPHA:667
Wolfram Syndrome	Central apnea, Respiratory insufficiency	ORPHA:3463
Down Syndrome	Epicanthus, Aganglionic megacolon, Short stature, Atlantoaxial instability, Upslanted palpebral f...	OMIM:190685
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia	OMIM:619817
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ...	ORPHA:206443
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Kyphosis, Sensorineural hearing impairment, Scoliosis, Mental deterioration	ORPHA:79107
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Mic...	OMIM:154500
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Uplifted earlobe, Large basal ganglia, Conductive hearing impairmen...	ORPHA:2152
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Rhinitis, Crackles	ORPHA:319213
Orofaciodigital Syndrome Type 4	Severe short stature, Microtia, third degree, Posteriorly rotated ears, Microcephaly, Absent crus...	ORPHA:2753
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Cowden Syndrome 1	Dysplastic gangliocytoma of the cerebellum, Kyphosis, Angioid streaks of the fundus, Hemimegalenc...	OMIM:158350
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Microcephaly, Hypoplasia of the odontoid process...	OMIM:223800
Fontaine Progeroid Syndrome	Aplastic/hypoplastic lacrimal glands, Cerebellar vermis hypoplasia, Short stature, Posteriorly ro...	OMIM:612289
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Cornelia De Lange Syndrome	Short neck, Synophrys, Conductive hearing impairment, Aplasia/Hypoplasia of the cerebellum, Low-s...	ORPHA:199
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Sting-Associated Vasculopathy, Infantile-Onset	Tachypnea	OMIM:615934
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Short neck, Kyp...	OMIM:618223
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Papilledema, Somatic sensory dysfunction, Akinesia, ...	ORPHA:3385
Primrose Syndrome	Epicanthus, Cerebral calcification, Ataxia, Short stature, Hearing impairment, Calcification of t...	OMIM:259050
Beta-Ketothiolase Deficiency	Tachypnea, Cough	ORPHA:134
Dextrocardia	Hydrocephalus, Aplasia/Hypoplasia of the ear	ORPHA:1666
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Congenital bilateral ptosis, Anotia, Atresia of the external auditory canal, Conductive hearing i...	OMIM:608257
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal pinna morphology, Elevated circulating luteinizing hormone level, Hydrocephalus, Abnorma...	ORPHA:95699
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Double Outlet Right Ventricle	Tachypnea	ORPHA:3426
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Short stature, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Seizure, Pla...	ORPHA:93360
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia, Abnormal retinal morphology	OMIM:614615
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Seizure, Ventriculomegaly	OMIM:304790
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microtia, Abnormal pinna morphology, Low-set ears, Short neck	OMIM:617925
Serotonin Syndrome	Tachypnea	ORPHA:43116
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf...	ORPHA:309271
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Abnormal cerebral white matter morphology, Seizure, Hypoplasia of the corpus callosum, Ventriculo...	OMIM:614501
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Microcephaly, Seizure, Holopro...	OMIM:157170
Gaucher Disease, Type Iiic	Seizure, Hydrocephalus	OMIM:231005
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Telecanthus, Cerebral white matter atrophy, Short stature, Short neck, Abnormal gl...	ORPHA:99646
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Low-set ears, Ventriculomegaly	OMIM:618188
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Telecanthus, Posteriorly rotated ears, Dysesthesia, Protruding ear, Scoliosis...	OMIM:601776
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia	OMIM:616364
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Short neck, Postnatal growth retardation, Cerebral atrophy, Seizure, Hyp...	OMIM:269150
Osteootohepatoenteric Syndrome	Hydrocephalus, Hearing impairment	OMIM:619377
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine g...	ORPHA:958
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Posteriorly rotated ears, Kyphosis, Scoliosis, Conductive hearing impairmen...	ORPHA:2215
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Conductive hearing impairment, Chronic otitis media	OMIM:244400
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Tachypnea	OMIM:613834
C Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Epicanthus, Short stature, Short neck, Microcep...	ORPHA:1308
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Protruding ear,...	OMIM:619534
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis	OMIM:617821
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Seizure, Hypopitu...	OMIM:300942
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Cogniti...	ORPHA:583
Fucosidosis	Kyphosis, Hypotonia, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spasticity	ORPHA:349
Osteogenesis Imperfecta, Type Iii	Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona...	OMIM:259420
Camurati-Engelmann Disease	Waddling gait, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the v...	ORPHA:1328
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Block vertebrae, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cer...	OMIM:306955
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Short stature, Chorioretinal dysplasia, Kyphosis, Protruding e...	ORPHA:534
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood	OMIM:618278
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Sparse eyebrow, Cerebellar hypoplasia, Molar tooth sign on MRI, Macrot...	OMIM:616300
Degcags Syndrome	Abnormal eyebrow morphology, Sacral dimple, Posteriorly rotated ears, Hearing impairment, Microce...	OMIM:619488
Cerebrocostomandibular Syndrome	Cerebral calcification, Short stature, Spina bifida, Microcephaly, Kyphosis, Myelomeningocele, Me...	ORPHA:1393
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Tachypnea	OMIM:615751
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Absent eyelashes, Low-s...	OMIM:200110
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion	ORPHA:3260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation	ORPHA:438213
Otopalatodigital Syndrome, Type Ii	Short stature, Posteriorly rotated ears, Kyphoscoliosis, Short neck, Spina bifida, Postnatal grow...	OMIM:304120
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Cerebellar hypoplasia, Absent or minimally ossified vertebral bodies, Disproportionat...	ORPHA:93271
Saethre-Chotzen Syndrome	Abnormal nasolacrimal system morphology, Short stature, Hearing impairment, Prominent crus of hel...	OMIM:101400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Chronic otitis media, Medial fl...	OMIM:619503
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Telecanthus, Sacral dimple, Short stature, Short neck, Kyphosis, Upslanted palpebral ...	OMIM:616894
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Intellectual Disability-Alacrima-Achalasia Syndrome	Ventriculomegaly	ORPHA:289483
Dysostosis, Stanescu Type	Cerebral calcification, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Scoliosis	ORPHA:1798
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Simpson-Golabi-Behmel Syndrome, Type 1	Epicanthus, Cerebellar vermis hypoplasia, Hydrocephalus, Anterior creases of earlobe, Agenesis of...	OMIM:312870
Capillary Malformation-Arteriovenous Malformation	Seizure, Hydrocephalus	ORPHA:137667
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Hemihyperplasia-Multiple Lipomatosis Syndrome	Microtia, Scoliosis	ORPHA:276280
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Lowe Oculocerebrorenal Syndrome	Short stature, Postnatal growth retardation, Kyphosis, Periventricular cysts, Seizure, Platyspond...	OMIM:309000
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Aganglionic megacolon, Short stature, Hearing impairment, Microcephaly, Absent ey...	OMIM:308205
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:162300
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Sacral dimple, Hearing impairment, Short neck, Kyp...	ORPHA:1507
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Abnormality of the ver...	ORPHA:2369
Mucolipidosis Type Ii	Epicanthus, Short stature, Postnatal growth retardation, Kyphosis, Conductive hearing impairment,...	ORPHA:576
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Mixed hearing impairment, Hearin...	OMIM:149730
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Short stature, Kyphosis, Upslanted palpebral fissure, Scoliosis, I...	OMIM:617602
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Protruding ear, Growth delay,...	OMIM:249420
Holoprosencephaly 3	Holoprosencephaly, Ventriculomegaly, Microcephaly	OMIM:142945
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Aspartylglucosaminuria	Seizure, Microtia, Scoliosis, Anterior beaking of lumbar vertebrae, Chronic otitis media, Beaking...	ORPHA:93
Joubert Syndrome 39	Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Retinal dystrophy, Mol...	OMIM:619562
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Kyphosis, Protruding ear, Upslanted palpebral fissure	OMIM:619123
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Sensorine...	OMIM:271700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Marfan Syndrome	Retinal detachment, Kyphosis, Meningocele, Hypotonia, Scoliosis, Spondylolisthesis	ORPHA:558
Adams-Oliver Syndrome 1	Encephalocele, Periventricular leukomalacia, Microcephaly, Cortical dysplasia, Seizure, Hypoplasi...	OMIM:100300
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Cowden Syndrome	Ataxia, Short stature, Kyphosis, Abnormal cerebellum morphology, Seizure, Scoliosis, Cognitive im...	ORPHA:201
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79430
Sotos Syndrome	Cerebellar vermis hypoplasia, Chronic otitis media, Conductive hearing impairment, Cavum septum p...	ORPHA:821
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Large earlobe, Seiz...	ORPHA:2769
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Bilateral ptos...	ORPHA:536532
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Decreased response to growth hormone stimulation test, Abnormal midbrain morpholog...	ORPHA:293987
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Lumbar hyperlordosis, Microcephaly, Sparse eyebrow, Kyphosis, Increa...	ORPHA:2232
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
17Q11 Microdeletion Syndrome	Short attention span, Short stature, Retinal vascular proliferation, Kyphosis, Focal-onset seizur...	ORPHA:97685
Thalidomide Embryopathy	Abnormality of the outer ear, Anotia, Short stature, Hearing impairment	ORPHA:3312
Roberts-Sc Phocomelia Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Short neck, Microcephaly, Postnatal growth r...	OMIM:268300
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Hypotonia, Fused cervical vertebrae, Vertebral...	ORPHA:1724
Stickler Syndrome	Retinal detachment, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hypot...	ORPHA:828
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Epicanthus, Thick eyebrow, Sacral dimple, Highly arched eyebro...	ORPHA:363611
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia	ORPHA:158684
Osteoglophonic Dysplasia	Respiratory distress, Cryptorchidism, Chordee	OMIM:166250
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Hypoplasminogenemia	Hydrocephalus, Abnormality of the middle ear, Dandy-Walker malformation	ORPHA:722
Hurler-Scheie Syndrome	Growth delay, Kyphosis, Short stature, Scoliosis	OMIM:607015
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Cdags Syndrome	Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, Ectropion	OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Entropion, Trichiasis, Sparse eyebrow, Kyphosis, Sensorineural hearing impairment, Thin eyebrow	OMIM:609944
Oeis Complex	Absence of the sacrum, Hydrocephalus, Sacral segmentation defect, Hemivertebrae, Myelomeningocele...	OMIM:258040
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea	OMIM:233450
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia	OMIM:616268
Hypermobile Ehlers-Danlos Syndrome	Apnea	ORPHA:285
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus, Low-set ears	OMIM:258850
Double Outlet Left Ventricle	Tachypnea	ORPHA:3427
Meester-Loeys Syndrome	Short stature, Downslanted palpebral fissures, Ventriculomegaly, Cervical spine instability	OMIM:300989
Loeys-Dietz Syndrome 1	Hydrocephalus, Chiari malformation, Scoliosis, Cervical spine instability	OMIM:609192
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea	ORPHA:415
Williams Syndrome	Dysmetria, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmentation defect, ...	ORPHA:904
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Tetraamelia Syndrome 1	Hydrocephalus, Low-set ears	OMIM:273395
Acth-Independent Macronodular Adrenal Hyperplasia	Mental deterioration, Kyphosis	OMIM:219080
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Pigmented Nodular Adrenocortical Disease, Primary, 2	Mental deterioration, Kyphosis	OMIM:610475
Somatomammotropinoma	Palpebral edema, Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, ...	ORPHA:314769
Poland Syndrome	Encephalocele, Short neck, Retinal hamartoma, Kyphosis, Hemivertebrae, Vertebral segmentation def...	ORPHA:2911
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Short stature, Hearing impairment, Short neck, Postnatal growth retardation, Kyphosis...	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Short stature, Hearing impairment, Short neck, Postnatal growth retardation, Kyphosis...	ORPHA:99228
Monosomy X	Epicanthus, Short stature, Hearing impairment, Short neck, Postnatal growth retardation, Kyphosis...	ORPHA:99226
Turner Syndrome	Epicanthus, Short stature, Hearing impairment, Short neck, Postnatal growth retardation, Kyphosis...	ORPHA:881
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis	OMIM:182210
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Gitelman Syndrome	Respiratory distress	ORPHA:358
Exercise-Induced Malignant Hyperthermia	Tachypnea, Crackles, Hypocapnia	ORPHA:466650
Rubinstein-Taybi Syndrome 1	Respiratory distress	OMIM:180849
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Facial palsy	ORPHA:258
Gaucher Disease Type 1	Growth delay, Kyphosis, Vertebral compression fracture, Delayed puberty	ORPHA:77259
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Proteus Syndrome	Abnormality of retinal pigmentation, Narrow internal auditory canal, Retinal hamartoma, Kyphosis,...	ORPHA:744
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Acromegaly	Palpebral edema, Elevated circulating growth hormone concentration, Kyphosis, Synophrys, Spinal c...	ORPHA:963
Leptospirosis	Respiratory distress, Pleural effusion, Cough	ORPHA:509
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Scorpion Envenomation	Abnormal nasal mucus secretion, Tachypnea	ORPHA:466677
Lymphedema-Distichiasis Syndrome	Ptosis, Kyphosis, Conjunctivitis, Distichiasis, Ectropion	OMIM:153400
Wilson Disease	Decreased nerve conduction velocity, Hypoesthesia, Face of the giant panda sign, Seizure, Dementia	OMIM:277900
Pigmented Nodular Adrenocortical Disease, Primary, 1	Mental deterioration, Kyphosis	OMIM:610489
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Loeys-Dietz Syndrome 2	Hydrocephalus, Chiari malformation, Scoliosis, Spondylolisthesis	OMIM:610168
Pallister-Killian Syndrome	Short neck, Rhizomelia, Mesomelic/rhizomelic limb shortening, Sparse eyebrow, Seizure, Low-set ea...	OMIM:601803
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormality of visual evoked potentials	ORPHA:512
8Q24.3 Microdeletion Syndrome	Respiratory distress	ORPHA:508488
Exstrophy-Epispadias Complex	Hydrocephalus, Microcephaly, Spina bifida, Abnormality of the orbital region	ORPHA:322
Aspartylglucosaminuria	Kyphosis, Hypotonia, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Generalized hypotonia, ...	OMIM:208400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Tachypnea	OMIM:220111
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Absent eyebrow, Kyphosis, Hearing impairment	ORPHA:85199
Wrinkly Skin Syndrome	Epicanthus, Short stature, Microcephaly, Kyphosis, Scoliosis, Low-set ears, Intrauterine growth r...	OMIM:278250
Occipital Horn Syndrome	Orthostatic hypotension, Kyphosis, Growth delay, Seizure, Platyspondyly	OMIM:304150
Viss Syndrome	Exostosis of the external auditory canal, Retinal detachment, Ptosis, Short stature, Posteriorly ...	OMIM:619472
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Occipital Horn Syndrome	Cerebral calcification, Kyphosis, Platyspondyly, Scoliosis, Downslanted palpebral fissures	ORPHA:198
Truncus Arteriosus	Tachypnea	ORPHA:3384
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension	ORPHA:51608
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials	OMIM:203700
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Somatic sensory dysfunction, Retinal pigment epitheli...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Hypogonadotropic hypogonadism, Decreased testicular size, Aspiration pneumonia	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dscam

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dscam.

No publications found that use IMPC mice or data for Dscam.

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MGI Allele	Allele Type	Produced
Dscam^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dscam^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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