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Gene: Map1b MGI:1306778

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

microtubule-associated protein 1B

Synonyms:

Mtap-5, Mtap1b, MAP5, Mtap5, LC1

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 Map1b 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 Map1b (3 diseases)
Human diseases predicted to be associated with Map1b (1977 diseases)

The table below shows human diseases associated to Map1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Periventricular Nodular Heterotopia 9	Epicanthus, Microcephaly, Synophrys, Hypoplasia of the corpus callosum, Interictal epileptiform a...	OMIM:618918
Periventricular Nodular Heterotopia		ORPHA:98892
Deafness, Autosomal Dominant 83		OMIM:619808

The table below shows human diseases predicted to be associated to Map1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Fetal Akinesia Syndrome, X-Linked	Telecanthus, Polyhydramnios, Narrow palpebral fissure, Stillbirth, Blepharophimosis, Agenesis of ...	OMIM:300073
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Sparse eyebrow, Downslanted palpebral fissures, Attent...	OMIM:618286
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Microcephaly 5, Primary, Autosomal Recessive	Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral...	OMIM:608716
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, EEG with focal slow activity, EEG with focal spikes, Hypoplasi...	ORPHA:101029
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait, Blurred vision	OMIM:160120
Cerebellar Ataxia, Cayman Type	Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive...	ORPHA:94122
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Tetraplegia, Coloboma, Hypertonia, Lethargy, Failure to thrive, Agenesis of corpus...	OMIM:274270
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi...	OMIM:606777
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Developmental And Epileptic Encephalopathy 92	Ataxia, Cerebral visual impairment, Inability to walk, Myoclonus, Difficulty walking, Dystonia, L...	OMIM:617829
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar verm...	ORPHA:401830
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Cryptorchidism, Simplified gyral pattern, Primary microcephaly, Decreased body weigh...	OMIM:616681
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar verm...	ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Upslanted pal...	OMIM:618492
Methylmalonic Acidemia With Homocystinuria	Amblyopia, Gait disturbance, Lethargy, Failure to thrive, Retinopathy	ORPHA:26
Gaba-Transaminase Deficiency	EEG with burst suppression, Agenesis of corpus callosum, Cerebellar hypoplasia, Leukodystrophy, D...	OMIM:613163
Ataxia-Tapetoretinal Degeneration Syndrome	Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ...	ORPHA:1178
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Dystonia	OMIM:618276
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Synoph...	OMIM:620317
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive, Ataxia, Visual impairment	ORPHA:622
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum, Ptosis	OMIM:618197
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Microcephaly 17, Primary, Autosomal Recessive	Low anterior hairline, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem,...	OMIM:617090
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic deterioration, Microc...	OMIM:214150
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop...	OMIM:164500
Warburg Micro Syndrome 1	Delayed CNS myelination, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Perisylvian ...	OMIM:600118
Atypical Pantothenate Kinase-Associated Neurodegeneration	Blindness, Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Oroman...	ORPHA:216873
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary ...	OMIM:618266
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Abnormal ...	ORPHA:85179
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Distal sensory impairment, Talipes equinovarus, Difficulty walking, Lethargy	OMIM:613710
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Leukoencephalopathy, Hand tremor, Lateral ventricle dilatation, Dystonia, Pro...	OMIM:615889
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Transient unilateral blurring of vision, Hemiplegia	OMIM:141500
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Lissencephaly 3	Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Congenital Disorder Of Glycosylation, Type Iiy	Delayed CNS myelination, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Th...	OMIM:620200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Chorioretinal a...	OMIM:238970
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Visual loss, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal m...	ORPHA:79262
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity	OMIM:617065
Severe Canavan Disease	Blindness, Inability to walk, Babinski sign, Optic atrophy, Decerebrate rigidity, Lethargy, Spast...	ORPHA:314911
Neuroectodermal Melanolysosomal Disease	Myopia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Cer...	ORPHA:33445
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Edema, Microcephaly	OMIM:616570
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Central Neurocytoma	Abnormal lateral ventricle morphology, Pain insensitivity, Ataxia, Babinski sign, Depression, Abn...	ORPHA:73256
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Behr Syndrome	Cerebellar atrophy, Blindness, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Hypop...	OMIM:210000
Lissencephaly 7 With Cerebellar Hypoplasia	Lymphedema, Microcephaly, EEG with burst suppression, Low anterior hairline, Lissencephaly, Cereb...	OMIM:616342
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Progressive v...	OMIM:256731
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Epicanthus, Delayed CNS myelination, Telecanthus, Microcephaly, Upslanted palpebral fissure, Fail...	OMIM:615286
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:620086
3Q13 Microdeletion Syndrome	Cryptorchidism, Epicanthus, Agenesis of corpus callosum	ORPHA:1621
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	DECIPHER:70
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr...	OMIM:165300
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Delayed CNS myelination, Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Pontocerebellar Hypoplasia, Type 14	Delayed CNS myelination, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brai...	OMIM:619301
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, EEG with abnormally slow frequencies, Dysplastic corpus callosum, ...	ORPHA:599373
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Dementia, Hypoplasia of the corpus callosum, Mental deterioratio...	ORPHA:101001
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Agenesis of corpus callosum, Conjunctival hyperemia	OMIM:619548
Myasthenic Syndrome, Congenital, 15	Ptosis	OMIM:616227
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypsarrhythmia, Inferior cerebel...	OMIM:618959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Cerebellar dysplasia	OMIM:615041
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Polyhydramnios, Microcephaly, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum, Frontal...	OMIM:618766
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio...	ORPHA:171680
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thr...	OMIM:250620
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Myopia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cer...	OMIM:617810
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:401815
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a...	OMIM:604326
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy	OMIM:618224
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturba...	OMIM:615838
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short palm, Ataxia, Tremor,...	OMIM:610185
Chronic Hiccup	Depression, Dehydration, Weight loss	ORPHA:396
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Ataxia, Babinski sign, Optic atrophy, Dystonia, Lethargy, Failure to thrive	OMIM:618226
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Myasthenic Syndrome, Congenital, 18	Ptosis	OMIM:616330
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar dysplasia, Dilated fourth ventricle, Myopia, Retinal atrophy, Retinal dystrophy, Ataxi...	ORPHA:370022
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Diffuse white mat...	OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp...	OMIM:613153
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ...	OMIM:611302
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive, Gait disturbance	ORPHA:79283
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para...	OMIM:614877
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of t...	ORPHA:488635
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
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
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Low anterior hairline, Hir...	OMIM:616819
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Red-green dyschromatopsia, Limb ataxia, Gait ataxia, Hand t...	ORPHA:98764
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Microcephaly, Sparse eyebrow, Downslanted palpebral fissures, Sparse hair, Agenesis o...	OMIM:619989
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Hypertonia, Dystonia, Lethargy, Failure to thrive	ORPHA:26792
Microcephaly 10, Primary, Autosomal Recessive	Delayed CNS myelination, Small for gestational age, Reduced cerebral white matter volume, Simplif...	OMIM:615095
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga	OMIM:620270
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrap...	OMIM:615362
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia...	ORPHA:521406
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia...	OMIM:619565
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Failure to thrive, Agenesis of corpus callosum, Ptosis	OMIM:618238
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Dystonia	OMIM:252650
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Leukodystrophy, Hypomyelinating, 18	Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Secondary microcep...	OMIM:618404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paresis of extensor muscles of the big toe, Difficulty walking, Paralysis	OMIM:608634
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,...	OMIM:611523
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Palpebral edema, Highly arched eyebrow, Microcephaly, Low anterior ...	ORPHA:466688
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordination, Hypermetr...	OMIM:617695
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebra...	OMIM:617668
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Oculocerebrocutaneous Syndrome	Alopecia, Cryptorchidism, Orbital cyst, Eyelid coloboma, Hypoplasia of the corpus callosum, Agene...	OMIM:164180
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Letharg...	OMIM:312170
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Progressive ptosis	OMIM:164300
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal...	OMIM:604360
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Unsteady gait, Optic atrophy, Gait disturbance, Lethargy, Spasticity	OMIM:603896
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus ...	ORPHA:2524
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Retinal dystrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor aprax...	OMIM:614867
Alpha-Methylacyl-Coa Racemase Deficiency	Constriction of peripheral visual field, Ataxia, Tremor, Depression, Hemiparesis, Pigmentary reti...	OMIM:614307
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Agenesis of corpus callosum, Neonatal death, Edema	OMIM:610498
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Abnormality of the distal phalanx of the thumb, Babinski ...	ORPHA:453521
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Abnormal hair pattern, Microcephaly, Generalized hirsutism, Agenesis of corpus callosum, Cerebral...	ORPHA:2508
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Highly arched eyebrow, Microcephaly, Delayed myelination, Nail dystrophy, Hypo...	OMIM:300887
Autosomal Recessive Spastic Paraplegia Type 71	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:401840
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I...	OMIM:615491
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Mental deterioration, CNS demyelination, Abnormal periventri...	OMIM:249900
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Paresis of extensor muscles of the big...	ORPHA:99947
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Lethargy, Failure to thrive	OMIM:618228
Imagawa-Matsumoto Syndrome	Cryptorchidism, Agenesis of corpus callosum, Polymicrogyria, Downslanted palpebral fissures, Hype...	OMIM:618786
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur...	ORPHA:401901
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Foxg1 Syndrome	Delayed myelination, Hypoplasia of the corpus callosum, Decreased body weight, Cognitive impairme...	ORPHA:561854
Glycine Encephalopathy 1	Irritability, Agenesis of corpus callosum	OMIM:605899
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe,...	OMIM:618387
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Low anterior hairline, Agenesis of ...	OMIM:618736
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hand tremor, Hypoplasia of ...	OMIM:607596
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Microcephaly, Concave nail, Abnormality of hair textu...	OMIM:234050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Diminished motivation, Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, S...	OMIM:615157
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Abnormal retinal morphology, Optic atrophy, Parkinsonism with favorab...	ORPHA:254886
Craniosynostosis 3	Partial agenesis of the corpus callosum, Low anterior hairline, Ptosis	OMIM:615314
Cednik Syndrome	Microcephaly, Optic atrophy, Hypogonadism, Pachygyria, Downslanted palpebral fissures, Polymicrog...	ORPHA:66631
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond...	ORPHA:2932
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebella...	OMIM:615960
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination	ORPHA:431329
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Latera...	ORPHA:77299
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depress...	ORPHA:71517
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Microcephaly, Partial agenesis of the corpus callosum, Later...	OMIM:619517
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Idiopathic Intracranial Hypertension	Papilledema, Scintillating scotoma, Diplopia, Visual loss, Obesity, Depression, Photophobia, Leth...	ORPHA:238624
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum,...	OMIM:616171
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Unilateral narrow palpebral fissure	OMIM:182875
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Blindness, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Dystonia, ...	ORPHA:254913
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Optic atrophy, Irritabilit...	OMIM:607196
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Myopia, Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Ankle clo...	OMIM:617435
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy	ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased nerve conduction veloc...	OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme...	OMIM:601098
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Myopia, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Scotoma, Tapered finger, Tremor, Cerebellar gliosis, Babinski sign, O...	OMIM:616505
Combined Oxidative Phosphorylation Deficiency 47	Microcephaly, Cryptorchidism, Dehydration, Failure to thrive, Ptosis	OMIM:618958
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Diplopia, Ba...	ORPHA:284324
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Delayed CNS myelination, Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the cor...	OMIM:618603
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, EEG with focal ...	ORPHA:79243
Autosomal Recessive Primary Microcephaly	Microcephaly, Upslanted palpebral fissure, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ...	ORPHA:2512
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, ...	OMIM:618346
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Blindness, Ataxia, Tremor, Visual loss, Chorea, Progressive visual field defe...	ORPHA:79263
Spinal Muscular Atrophy, Jokela Type	Tremor, Distal sensory impairment, Hammertoe, Fasciculations, Difficulty walking	OMIM:615048
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure to thrive	OMIM:236270
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:303350
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Gait ataxia, Spinocerebel...	OMIM:215470
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki...	ORPHA:330050
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoatheto...	OMIM:616034
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Diplopia, Reduced visua...	ORPHA:140989
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Ataxia, Myoclonus, Lethargy, Spasticity	OMIM:618225
Combined Malonic And Methylmalonic Acidemia	Memory impairment, Failure to thrive, Dehydration, Microcephaly	ORPHA:289504
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo...	OMIM:183090
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, EEG abnormality, Lissencephaly,...	OMIM:614833
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Secondary microcephaly, Lissencephaly, Long palpebral fissure...	OMIM:614583
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Cryptorchidism, Agenesis of corpus callosum, Attention deficit hyperactivity disorder...	OMIM:615433
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Long eyelashes, Polyhydramnios, Dehydration	OMIM:616069
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Hemiparkinsonism-Hemiatrophy Syndrome	Tremor, Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Dystonia	ORPHA:306669
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Motor deterioration...	OMIM:245200
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Diffuse demyelination of the cerebral white matter, EEG with burst suppression, Neu...	ORPHA:168486
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
6Q25 Microdeletion Syndrome	Epicanthus, Microcephaly, Upslanted palpebral fissure, Agenesis of corpus callosum, Failure to th...	ORPHA:251056
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia	OMIM:233910
Citrullinemia Type I	Torticollis, Ataxia, Scotoma, Slurred speech, Ankle clonus, Lethargy, Spasticity, Failure to thrive	ORPHA:247525
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Cerebral atrophy, EEG abnorma...	ORPHA:457205
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Myopia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia,...	ORPHA:529665
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Even-Plus Syndrome	Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal...	OMIM:616854
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Diplopia, Chorea, Myoclonus, Head tremor, Apraxia, C...	OMIM:620158
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609260
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Agenesis of cerebellar vermis, Cryptorchidism, Fine hair, Upslanted palpeb...	ORPHA:228390
Holoprosencephaly 11	Synophrys, Agenesis of corpus callosum, Thick eyebrow, Microcephaly	OMIM:614226
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti...	OMIM:608673
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Susac Syndrome	Somatic sensory dysfunction, Visual loss, Diplopia, Gait ataxia, Apathy, Lethargy, Upper motor ne...	ORPHA:838
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Lissencephaly 6 With Microcephaly	Microcephaly, Almond-shaped palpebral fissure, Partial agenesis of the corpus callosum, Synophrys...	OMIM:616212
Fg Syndrome 3	Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Agenesis of corpus callosum	OMIM:300406
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Spasti...	ORPHA:329284
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Myopia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmet...	OMIM:607694
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Diffuse cerebral atrophy, Decreased compound muscle ac...	OMIM:619279
Ring Chromosome 22 Syndrome	Epicanthus, Absent septum pellucidum, Edema, Lymphedema, Microcephaly, Toenail dysplasia, Azoospe...	ORPHA:1446
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Cryptorchidism, Low anterior hairli...	OMIM:619244
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Almond-shaped palpebral fissure, Optic atrophy, Hypsarrhyth...	OMIM:620352
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy	ORPHA:289916
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
4H Leukodystrophy	Cerebellar atrophy, Myopia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dy...	ORPHA:289494
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Microcephaly, Low posterior hairline, Azoospermia, Agenesis ...	ORPHA:261519
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Ptosis	OMIM:617732
Classic Galactosemia	Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Depression, Gait disturbance...	ORPHA:79239
Cortical Dysplasia, Complex, With Other Brain Malformations 12	EEG with burst suppression, Dysgenesis of the basal ganglia, Cryptorchidism, Hypsarrhythmia, Liss...	OMIM:620316
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiad...	ORPHA:254881
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Early Myoclonic Encephalopathy	Lethargy, Myoclonus	ORPHA:1935
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Apathy, Shuffling gait, Falls, Short steppe...	ORPHA:306692
Dworschak-Punetha Neurodevelopmental Syndrome	Ptosis, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Spar...	OMIM:619955
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera...	ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Horizontal eyebrow, Ptosis	OMIM:619311
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb...	ORPHA:139485
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left...	OMIM:617542
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal...	ORPHA:96
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Paralysis	OMIM:616286
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Choreoathetosis, Dystonia, Lethargy, Failure to thrive	ORPHA:79312
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Severe demyelination of the white matter, CNS hypomyelination, Upslanted palpebral...	ORPHA:481152
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:605285
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Ataxia, Dystonia	OMIM:246900
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Central Diabetes Insipidus	Depression, Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Epicanthus, Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly	OMIM:245349
Combined Oxidative Phosphorylation Defect Type 13	Decreased nerve conduction velocity, Delayed myelination, Abnormal basal ganglia morphology, Fail...	ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac...	OMIM:617282
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paresis of extensor muscles of the big toe, Paralysis	OMIM:158590
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Intellectual Developmental Disorder, Autosomal Dominant 65	Synophrys, Low posterior hairline, Upslanted palpebral fissure, Narrow palpebral fissure, Thin ey...	OMIM:619320
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Lethargy, Spastic...	OMIM:614299
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia	OMIM:128235
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Microcephaly, Corpus callosum atrophy, Decreased nerve conduction velocity, Cr...	ORPHA:565624
Pyruvate Dehydrogenase E3 Deficiency	Ataxia, Reduced visual acuity, Lethargy, Spasticity, Failure to thrive	ORPHA:2394
Chromosome 5P13 Duplication Syndrome	Epicanthus, Small for gestational age, Blepharophimosis, Low posterior hairline, Upslanted palpeb...	OMIM:613174
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Visual impairment	OMIM:613703
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic mo...	OMIM:619738
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Polyhydramnios, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, H...	ORPHA:500144
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Long eyelashes, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Epicanthus, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesit...	OMIM:619737
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy	ORPHA:27
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti...	OMIM:616040
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Progressive visual lo...	ORPHA:391417
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Microcephaly	OMIM:615284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle...	OMIM:613154
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Visual loss, Optic atrophy, Paresthesia, Lethargy	ORPHA:49827
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Demyelinating motor neuropathy, Decreased nerve conduction velocity, Abnormal motor evoked potent...	ORPHA:99939
Trismus-Pseudocamptodactyly Syndrome	Ptosis	ORPHA:3377
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Myopia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Hi...	OMIM:614381
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Myopia, Ataxia, Tremor, Inability to walk, Hypermetropia, Hypertonia, Cerebellar hypoplasia, Fail...	OMIM:619556
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Congenital ptosis	OMIM:254190
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Hogue-Janssen Syndrome 2	Delayed CNS myelination, Microcephaly, Abnormal hair whorl, Agenesis of corpus callosum, Hypoplas...	OMIM:616362
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre...	ORPHA:90103
Radio-Tartaglia Syndrome	Epicanthus, Highly arched eyebrow, Microcephaly, Long eyebrows, Synophrys, Low anterior hairline,...	OMIM:619312
Martsolf Syndrome 2	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619420
Transient Neonatal Diabetes Mellitus	Failure to thrive, Small for gestational age, Dehydration	ORPHA:99886
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	ORPHA:298
Dihydropyrimidinase Deficiency	Abnormal pyramidal sign, Talipes equinovarus, Extrapyramidal dyskinesia, Lethargy, Short phalanx ...	OMIM:222748
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Lamellar Ichthyosis	Dehydration, Cognitive impairment, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of th...	ORPHA:313
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Lethargy	OMIM:617900
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:618184
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Baraitser-Winter Syndrome 1	Epicanthus, Failure to thrive, Highly arched eyebrow, Microcephaly, Cryptorchidism, Low posterior...	OMIM:243310
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ...	ORPHA:228360
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Charcot-Marie-Tooth Disease Type 1A	Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity, Decreased sensory ...	ORPHA:101081
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Action tremor	OMIM:606438
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Diplopia, Babinski sign, Truncal ataxia,...	ORPHA:276198
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly...	OMIM:616531
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Cachexia, Microcephaly, Decreased nerve conduction velocity, Generalized ...	ORPHA:1933
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Epicanthus, Telecanthus, Thick eyebrow, Polyhydramnios, Microcephaly, Highly arched e...	OMIM:617360
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D...	OMIM:302800
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Medulloblastoma	Ataxia, Cerebellar calcifications, Diplopia, Dysmetria, Progressive cerebellar ataxia, Progressiv...	ORPHA:616
Spastic Ataxia 1, Autosomal Dominant	Ptosis	OMIM:108600
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia, Clinodactyly of ...	OMIM:619422
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hyperconvex nail, Microcephaly, Cryptorchidism, Synophrys, Optic atrophy, Low anterior hairline, ...	OMIM:300004
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Large for gestational age, Hypoplastic toenails, Bilateral cryptorchidism, Hyperi...	ORPHA:544488
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Di...	OMIM:609270
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus ...	ORPHA:357058
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Srd5A3-Cdg	Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Abnormal cerebellum morphology, Visual loss, O...	ORPHA:324737
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Diplopia, Gait ataxia, Progressive cerebellar ataxia, Abnormality of ...	ORPHA:98773
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Increased body weight	ORPHA:276608
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Apathy, Falls, Dystonia, Parkinsonism with favorable ...	ORPHA:240085
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude	OMIM:619112
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Agenesis of corpus callosum	ORPHA:380
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Visual loss, Babinski sign, Spasticity,...	ORPHA:247234
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre...	OMIM:137440
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy	OMIM:613002
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Failure to thrive, Polyhydramnios, Microcephaly, Highly arched eyebrow, ...	ORPHA:363528
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Optic atrophy, Ataxia	OMIM:300983
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Dysplastic corpus callosum, Small for gestational age, Oligohydramnios	OMIM:620135
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Reticular Dysgenesis	Failure to thrive, Dehydration, Weight loss	ORPHA:33355
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Onion bulb formation	OMIM:610100
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Fusion of the cerebellar hemispheres, Myopia, Blind...	ORPHA:370959
4Q21 Microdeletion Syndrome	Synophrys, Long eyelashes, Cerebellar hypoplasia, Agenesis of corpus callosum, Generalized hirsut...	ORPHA:238750
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Epicanthus, Polyhydramnios, Microcephaly, Cachexia, CN...	OMIM:618186
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Failure to thrive in infancy, Microcephaly, Abnormal c...	OMIM:619026
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Diplopia, Babinski sign, Optic atrophy, Unsteady gait, P...	OMIM:619259
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Synophrys, Cerebral atrophy, Narrow palpebr...	OMIM:620156
Microhydranencephaly	Microcephaly, Athetosis, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Agenesis of corpus c...	OMIM:605013
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Weiss-Kruszka Syndrome	Epicanthus, Hypoplastic fingernail, Highly arched eyebrow, Colpocephaly, Downslanted palpebral fi...	OMIM:618619
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Delayed CNS myelination, Cerebellar vermis hypoplasia, Highly arched eyebrow, Microcephaly, Low a...	OMIM:615802
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Cerebral visual impairment, Tremor, Visual loss, Central scotoma,...	ORPHA:52368
Early-Onset X-Linked Optic Atrophy	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Emotional lability	ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Frontonasal Dysplasia 1	Pericallosal lipoma, Epicanthus, Widow's peak, Agenesis of corpus callosum, Ptosis	OMIM:136760
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol...	OMIM:615665
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy	ORPHA:1188
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dystonia, Paralysis	OMIM:300857
Jaberi-Elahi Syndrome	Appendicular spasticity, Myopia, Broad-based gait, Failure to thrive, Tremor, Inability to walk, ...	OMIM:617988
Ophthalmoplegia, External, And Myopia	Spina bifida, Ptosis	OMIM:311000
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Partial agenesis of the corpus callosum, Synophrys, Hypertrichosis...	OMIM:620113
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Microcephaly, Upslanted palpebral fissure, Lissencephaly, Hypoplasia of th...	OMIM:618142
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Ring Chromosome 1 Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1437
Congenital Myopathy 10A, Severe Variant	Failure to thrive, Facial palsy, Abnormal motor nerve conduction velocity	OMIM:614399
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Absent septum pellucidum, Polyhydramnios, Blephar...	ORPHA:3339
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Microcephaly, Agenesis of corpus callosum, Sparse hair, Downslanted palp...	OMIM:619980
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis	OMIM:258470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu...	ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Myopia, Cerebellar vermis hypoplasia, Retinal dystrophy, Inability to walk, Cerebellar hypoplasia...	OMIM:613155
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	CNS demyelination, Partial agenesis of the corpus callosum, Delayed CNS myelination, Thin corpus ...	OMIM:619653
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis	OMIM:619470
Greig Cephalopolysyndactyly Syndrome	Downslanted palpebral fissures, Cryptorchidism, Agenesis of corpus callosum, Hirsutism	OMIM:175700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Telecanthus, Cerebellar vermis hypoplasia, Cryptorchidism, Hirsutism, Upslanted palpebral fissure...	OMIM:620073
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Amblyopia, Tremor, Abnormal pyramidal sign, Hypermetropia, Eyelid myoclon...	OMIM:618060
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly,...	OMIM:617281
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Polyhydramnios, Microcephaly, Facial edema, Partial agenesis of the corpus callosum, Neuronal los...	ORPHA:86822
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Long eyelashes, Cerebral cortical atrophy, Abnormality of peripher...	ORPHA:48431
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Telecanthus, Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline, Interhypoth...	OMIM:618929
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal...	OMIM:300623
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Polyhydramnios, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly...	OMIM:225790
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Synophrys, Obesity, Fine hair, Upslanted palpebral fissu...	OMIM:620250
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity	ORPHA:101075
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Cognitive impairment, Hypoplasia of the corpus callosum, Failure to ...	OMIM:613735
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity	OMIM:608323
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:617751
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Ptosis	OMIM:619862
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Cerebral visual impairment, Tremor, Optic atrophy, Upper limb undergrowth, Small hand, Po...	OMIM:608799
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye...	OMIM:162500
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Ptosis	OMIM:606242
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:99948
Combined Oxidative Phosphorylation Deficiency 24	Microcephaly, Optic atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:616239
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse scalp hair, Epicanthus, Cerebellar vermis hypoplasia, Sparse eyebrow, Hypoplastic toenails...	ORPHA:459061
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Agenesis of corpus callosum, Absent extraocular muscles, Abnormal auditory evoked po...	OMIM:109120
Developmental And Epileptic Encephalopathy 41	Inability to walk, Babinski sign, Tetraparesis, Lethargy, Spasticity	OMIM:617105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha...	ORPHA:284417
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:214400
Huntington Disease-Like 1	Cerebellar atrophy, Abnormal basal ganglia morphology, Abnormal posturing, Cerebral cortical atro...	ORPHA:157941
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Visual field ...	OMIM:615651
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction	ORPHA:65684
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, D...	ORPHA:458803
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Highly arched eyebrow, Microcephaly, Abnormal testis morphology, Crypto...	ORPHA:96147
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, ...	OMIM:128100
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Epicanthus, Telecanthus, Microcephaly, EEG with burst suppression, Upsla...	OMIM:617260
Fibrosis Of Extraocular Muscles, Congenital, 1	Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph...	OMIM:135700
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance	ORPHA:99014
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:605726
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Bipolar affective disorder, Ataxia, Cerebr...	ORPHA:254892
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Probst bundles, Short attention span, Hooded eyelid, Sparse eyelas...	OMIM:612863
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Visual loss, Diplopia, Progressive spasti...	ORPHA:43
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dystonia, ...	OMIM:617669
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Leukoencephalopathy, Dementia, Cognitive impairment, D...	OMIM:603472
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Amblyopia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Ath...	OMIM:617710
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Ptosis	ORPHA:1373
Subependymal Nodular Heterotopia	Interictal EEG abnormality, Partial agenesis of the corpus callosum, EEG with focal sharp slow wa...	ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Cerebellar hypo...	OMIM:615181
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary mov...	ORPHA:48818
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Acromicric Dysplasia	Decreased nerve conduction velocity, Abnormal eyebrow morphology, Long eyelashes	ORPHA:969
Biotinidase Deficiency	Ataxia, Visual loss, Optic atrophy, Lethargy, Diffuse cerebellar atrophy	OMIM:253260
Cyclic Vomiting Syndrome	Lethargy, Ataxia	OMIM:500007
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Cachexia, Tremor, Abnormality of macular pigmentation, Myoclonus, Visu...	ORPHA:97229
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Decreased testicular size, Hypogonadotropic hypogonadi...	OMIM:604168
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Microcephaly, Cerebral atrophy, Leukodystrophy, Thin c...	OMIM:619851
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Polyhydramnios, Abnormal eyelid morphology, Supernumerary nipple, Cryptorchidism, Fin...	ORPHA:1812
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Long eyel...	OMIM:617595
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Polyhydramnios, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Aplasia/Hypopl...	ORPHA:990
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Neuromuscular Oculoauditory Syndrome	Epicanthus, Decreased nerve conduction velocity, Peripheral hypomyelination, Agenesis of corpus c...	OMIM:618733
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Amblyopia, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormalit...	OMIM:615673
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Palpebral edema, Microcephaly, Downslanted palpebral fissures, Blepharophimosis, Agen...	ORPHA:261144
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Small for gestational age, Optic nerve hypoplasia, Polyhydramnios, Microcephaly, Cry...	OMIM:301056
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Diplopia, Dysmetria, Gait ataxia, Hemiparesis, Transient unilateral b...	OMIM:602481
Coach Syndrome 2	Cerebellar vermis hypoplasia, Coloboma, Chorioretinal coloboma, Oculomotor apraxia, Agenesis of c...	OMIM:619111
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpu...	OMIM:614924
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Typhoid	Tremor, Lethargy, Hypertonia, Ataxia	ORPHA:99745
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Chiari malforma...	OMIM:207950
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v...	OMIM:608629
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ptosis	OMIM:609283
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Dehydration, Fine ...	ORPHA:634
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Nizon-Isidor Syndrome	Unilateral ptosis, Sparse eyebrow, Upper eyelid edema, Downslanted palpebral fissures, Hypoplasia...	OMIM:618872
Bohring-Opitz Syndrome	Epicanthus, Dandy-Walker malformation, Thick hair, Delayed peripheral myelination, Polyhydramnios...	OMIM:605039
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Abnormal globus pallidus morphology, Delayed CNS myelination, Failure to thrive, Dehydration	OMIM:251000
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Leukodystrophy	OMIM:614932
Joubert Syndrome 15	Retinal dystrophy, Ataxia, Preaxial polydactyly, Coloboma, Oculomotor apraxia, Retinopathy	OMIM:614464
Benign Samaritan Congenital Myopathy	Lethargy, Fasciculations	ORPHA:324581
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Blindness, Ataxia, Tremor, Visual loss, Upper motor neuron dysfunction, Sl...	ORPHA:206443
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lymphedema	OMIM:607131
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Small hand, Waddling gait	OMIM:616269
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:2057
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia, Visual impairment	ORPHA:1368
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Encephalocraniocutaneous Lipomatosis	Alopecia, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Eyelid coloboma, Cerebellar hyp...	OMIM:613001
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Diplopia, Babinski s...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Diplopia, Babinski s...	ORPHA:276241
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Delayed myelination, Periventricular cysts, Dehydration, CNS hypom...	ORPHA:3008
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Delayed CNS myelination, Polyhydramnios, Partial agenesis of the corpus callosum, Optic nerve dys...	OMIM:617296
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Antecubital pterygium, Cerebellar hypoplasia, Agenes...	OMIM:616258
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive, Ataxia, Paraplegia	ORPHA:927
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency	ORPHA:2928
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Ptosis	OMIM:614198
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at...	OMIM:608804
Insulinoma	Tremor, Increased body weight, Abnormality of vision, Paresthesia, Abnormality of pain sensation,...	ORPHA:97279
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Autosomal Agammaglobulinemia	Epicanthus, Failure to thrive, Conjunctivitis, Dehydration	ORPHA:33110
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Cerebral calcification, Optic atrophy, Mental deterioration, Long eyelashes, Cerebell...	OMIM:618476
Carnitine Deficiency, Systemic Primary	Failure to thrive, Confusion, Dehydration	OMIM:212140
Joubert Syndrome 16	Retinal dystrophy, Coloboma, Polydactyly, Oculomotor apraxia, Dandy-Walker malformation	OMIM:614465
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Almond-shaped palpebral fissure, Agenesis of corpus callosum	ORPHA:521308
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Failure to thrive, Small for gestational age, Metatarsus adductus, Optic nerv...	OMIM:614866
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral dysmyelination	ORPHA:101082
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Vestibular schwannoma	OMIM:613641
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy	ORPHA:101077
Spinocerebellar Ataxia Type 1	Optic atrophy, Cognitive impairment, Abnormal nerve conduction velocity, Memory impairment, Abnor...	ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal cerebral white matter morphology, Dysgyria, Hypoplasia of the brainstem, ...	ORPHA:352682
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L...	ORPHA:845
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation...	OMIM:614219
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Facial-ling...	ORPHA:276244
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Spinocerebellar Ataxia Type 3	Diplopia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxi...	ORPHA:98757
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Equinus calcaneus, Babinski sign, Pigmentary retinopathy, Tip-toe g...	ORPHA:746
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat...	ORPHA:542310
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Speech apraxia, Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign,...	ORPHA:415
Intellectual Developmental Disorder, Autosomal Dominant 22	Epicanthus, Telecanthus, Highly arched eyebrow, Microcephaly, Agenesis of corpus callosum, Short ...	OMIM:612337
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Tremor, Visual loss, Hand polydactyly, R...	ORPHA:220493
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Optic atrophy, Hemiparesis, Gait disturbance, Spastic paraparesis,...	ORPHA:395
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Ptosis	OMIM:169100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Epicanthus, Cerebellar vermis hypoplasia, Microcephaly, Sparse eyebrow, Low anterior hairline, Lo...	OMIM:619720
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity	OMIM:620111
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Decreased testicular size, Lissencephaly	OMIM:300215
Deafness, X-Linked 7	Telecanthus, Thick eyebrow, Ptosis	OMIM:301018
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity	OMIM:605589
Temtamy Syndrome	Downslanted palpebral fissures, Agenesis of corpus callosum, Thick corpus callosum, Highly arched...	OMIM:218340
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Cluster Headache, Familial	Ptosis	OMIM:119915
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Failure to thrive, Impaired pain sensation, Inability to walk, Impaired dista...	ORPHA:99949
Corpus Callosum Agenesis-Neuronopathy Syndrome	EEG abnormality, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive, Ataxia	OMIM:237300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella...	OMIM:618291
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Cerebellar malformation, Retinal dysplasia, Coloboma	ORPHA:324416
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Failure to thrive	OMIM:613561
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Azoospermia, Hypergonadotropic hypogonadism, Leukoence...	OMIM:613724
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Microcephaly, Synophrys, Upslanted palpebral fissure, Agenesis of corpus...	ORPHA:238769
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, ...	ORPHA:457240
Trisomy 1Q	Polyhydramnios, Hypoplastic toenails, Cryptorchidism, Increased nuchal translucency, Hydrops feta...	ORPHA:261344
Familial Cold Urticaria	Conjunctivitis, Dehydration	ORPHA:47045
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:218350
Cach Syndrome	Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Abnormal pons morpho...	ORPHA:135
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity	OMIM:302801
Ascher Syndrome	Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology	ORPHA:1253
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor functi...	OMIM:605711
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Ataxia, Cachexia	ORPHA:42
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Dehydration, Ptosis	OMIM:560000
Oculopharyngodistal Myopathy 3	Photophobia, Pigmentary retinopathy, Ataxia, Tremor	OMIM:619473
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Progressive neurologic deterioration, Failure to thrive, Dehydration, Ptosis	OMIM:615453
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Decreased nerve conduction velocity, Emotional lability, Memory impairment	ORPHA:435387
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,...	OMIM:618606
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Intellectual Developmental Disorder, Autosomal Recessive 65	Supernumerary nipple, Cryptorchidism, Partial agenesis of the corpus callosum, Hypoplasia of the ...	OMIM:618109
Monosomy 13Q34	Epicanthus, Metrorrhagia, Microcephaly, Obesity, Agenesis of corpus callosum, Horizontal eyebrow,...	ORPHA:96168
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Ptosis	ORPHA:171706
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity	ORPHA:868
Arthrogryposis, Distal, Type 7	Ptosis	OMIM:158300
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation, Secondary microcephaly, Dystonia, Thin cor...	OMIM:617854
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia	OMIM:304700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity	OMIM:607678
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation	OMIM:256850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Death in childhood	OMIM:604273
Emanuel Syndrome	Ptosis, Hooded eyelid, Microcephaly, Cryptorchidism, Cerebral atrophy, Upslanted palpebral fissur...	ORPHA:96170
Propionic Acidemia	Failure to thrive, Cerebral atrophy, Dehydration	OMIM:606054
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Blepharophimosis, Telecanthus, Ptosis	OMIM:606772
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Cereb...	OMIM:609136
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrop...	ORPHA:206436
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity	OMIM:616687
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Spastic par...	OMIM:300894
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607250
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation...	ORPHA:208447
Chromosome 14Q11-Q22 Deletion Syndrome	Delayed CNS myelination, Epicanthus, Failure to thrive, Unilateral cryptorchidism, Microcephaly, ...	OMIM:613457
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Abnormal cerebral white matter morphology	OMIM:618138
Immunodeficiency 49	Reduced cerebral white matter volume, Hirsutism, Upslanted palpebral fissure, Agenesis of corpus ...	OMIM:617237
Hartsfield Syndrome	Encephalocele, Telecanthus, Lobar holoprosencephaly, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Microcephaly, Cerebral atrophy, Downslanted palpebral fissures, Hypoplasia of the cor...	OMIM:616449
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking...	OMIM:159950
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood	OMIM:619423
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Small for gestational age, EEG with multifocal slow activity, Secondary...	ORPHA:289266
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Weight loss	ORPHA:79242
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Failure to thrive, Dehydration	OMIM:610600
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Short femur, Cerebral visual impairment, Talipes equinovarus, Short tibia, Le...	OMIM:620306
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor...	ORPHA:99953
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Severe demyelination of the white matter, Microcephaly, Optic atrophy, Hydrops fetalis, Leukoence...	ORPHA:79282
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Abnormal cerebral white matter morphology	OMIM:159550
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Irritability, Lissencephaly, Agenesis ...	ORPHA:99742
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis	OMIM:616321
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Microcephaly, Cryptorchidism, Pachygyria, Agenesis of corpus callosum	ORPHA:452
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
Coffin-Siris Syndrome 8	Long eyelashes, Thick eyebrow, Ptosis	OMIM:618362
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism...	ORPHA:3077
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Hypoplasia of the corpus callosum	OMIM:610015
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Fazio-Londe Disease	Ptosis	OMIM:211500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity	OMIM:615575
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:277720
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Microcephaly, Dehydration, Lissencephaly, Failure to thrive, Oligohydr...	OMIM:208085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:615249
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Variegate Porphyria	Paralysis	OMIM:176200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Hydro...	OMIM:613150
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Primary amenorrhea, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonadism	OMIM:147950
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	ORPHA:3038
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ptosis	OMIM:617069
Agnathia-Otocephaly Complex	Downslanted palpebral fissures, Agenesis of corpus callosum, Polyhydramnios	OMIM:202650
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis	OMIM:110150
X-Linked Charcot-Marie-Tooth Disease Type 6	Decreased nerve conduction velocity	ORPHA:352675
Progressive Hemifacial Atrophy	Ptosis	ORPHA:1214
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Prominent eyelashes, Simplified gyra...	OMIM:619179
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Photophobia, Blepharospa...	ORPHA:240071
Marden-Walker Syndrome	Epicanthus, Microcephaly, Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ble...	OMIM:248700
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity	OMIM:608895
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Gait imbalance	OMIM:618120
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity	OMIM:613287
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Depression, Pigmentary retinopathy, Dy...	OMIM:617675
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Cryptorchidism, Decreased compound muscle action potential amplitude, Degeneration ...	OMIM:301830
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Thin corpus callosum, Microcephaly	OMIM:615716
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Arthrogryposis, Distal, Type 2B3	Downslanted palpebral fissures, Ptosis	OMIM:618436
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocere...	ORPHA:95433
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr...	OMIM:615574
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity	OMIM:606595
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Cryptorchidism, Dehydration, Oligozoospermia, Azoospermia, Failure...	OMIM:300200
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Decreased nerve conduction velocity, Failure to thrive, Microcephaly	OMIM:618356
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Pigmentary retinop...	ORPHA:502423
Melas	Short attention span, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the cerebral white mat...	ORPHA:550
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Weight loss, Apathy, Dystonia...	OMIM:168605
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Optic atrophy, Abnormal cerebral white matter mo...	ORPHA:35069
Gm2-Gangliosidosis, Ab Variant	Blindness, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami...	OMIM:272750
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Abnormal o...	ORPHA:83629
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Congenital Tufting Enteropathy	Optic disc coloboma, Dehydration, Weight loss, Irritability, Failure to thrive	ORPHA:92050
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Amblyopia, Tr...	ORPHA:572798
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Delayed CNS myelination, Epicanthus, Microcephaly, Almond-shaped palpebral fissure, Bilateral pto...	OMIM:619512
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity	OMIM:600361
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Decreased testicular size, Cryptorchidism, Perisylvian...	OMIM:615663
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Small for gestational age, Rhizomelia, Sandal gap...	OMIM:607143
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Downslanted palpeb...	OMIM:615834
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal ganglia, Progressiv...	ORPHA:506
Ritscher-Schinzel Syndrome 4	Curly hair, Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Downslanted palpe...	OMIM:619435
Methylcobalamin Deficiency Type Cble	Syndactyly, Lower limb hypertonia, Lethargy, Clinodactyly, Failure to thrive, Visual impairment	ORPHA:2169
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Decreased nerve conduction velocity, Decreased number of small peripheral myelinated nerve fibers...	ORPHA:101097
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Abnormal cerebral white matter morphology, Me...	OMIM:250100
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Ptosis	OMIM:616154
Proximal Xq28 Duplication Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:1762
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Vici Syndrome	Hypoplasia of the pons, Optic atrophy, EEG abnormality, Cerebellar hypoplasia, Agenesis of corpus...	ORPHA:1493
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Reduced visual acuity, Pigmentary retinopathy, Abnormality of extrapyramidal motor functi...	OMIM:277400
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude	OMIM:619519
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum...	ORPHA:397715
Fumarase Deficiency	Failure to thrive, Polyhydramnios, Microcephaly, Conjunctival icterus, Optic atrophy, Cerebral at...	OMIM:606812
Perry Syndrome	Parkinsonism, Tremor, Depression, Weight loss, Apathy, Abnormality of extrapyramidal motor function	ORPHA:178509
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Visual loss, Optic atrophy, Coloboma, Spasticity, Failure to thrive	OMIM:612379
Isolated Complex I Deficiency	Optic disc pallor, Blindness, Ataxia, Optic neuropathy, Lethargy, Failure to thrive	ORPHA:2609
Charcot-Marie-Tooth Disease And Deafness	Tremor, Split hand, Distal sensory impairment, Hammertoe, Steppage gait, Gait disturbance	OMIM:118300
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616326
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity	OMIM:183050
Chromosome 6Pter-P24 Deletion Syndrome	Telecanthus, Epicanthus, Agenesis of corpus callosum, Frontal upsweep of hair, Dandy-Walker malfo...	OMIM:612582
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Cerebral white matter atrophy, CNS hypomyelination, Le...	OMIM:610532
Curry-Jones Syndrome	Optic disc coloboma, Agenesis of corpus callosum, Generalized hirsutism	ORPHA:1553
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Metachromatic Leukodystrophy, Adult Form	Short attention span, Decreased nerve conduction velocity, Optic atrophy, Progressive psychomotor...	ORPHA:309271
Yuan-Harel-Lupski Syndrome	Epicanthus, Decreased nerve conduction velocity, Upslanted palpebral fissure, Failure to thrive, ...	OMIM:616652
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Ptosis	ORPHA:83619
Purpura Simplex	Ptosis	OMIM:179000
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Generalized hirsutism	ORPHA:93476
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Highly arched eyebrow, Polymicrogyria, Agene...	ORPHA:220497
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Hydrolethalus	Absent septum pellucidum, Polyhydramnios, Cryptorchidism, Anencephaly, Agenesis of corpus callosum	ORPHA:2189
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Lethargy, Limb dystonia	OMIM:604377
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Leth...	OMIM:618321
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Decreased body weig...	OMIM:609053
Maple Syrup Urine Disease	Lethargy, Hypertonia, Ataxia	OMIM:248600
Roussy-Lévy Syndrome	Acute demyelinating polyneuropathy, Decreased motor nerve conduction velocity	ORPHA:3115
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Failure to thrive, Dehydration	ORPHA:556030
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Blindness, Ataxia, Optic neuropathy, Babinski sign, Tongue...	OMIM:252010
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Lethargy, Failure to thrive, Ataxia	OMIM:201100
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Small for gestational age, Large for gestational age	ORPHA:324575
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Ptosis	ORPHA:438178
Autosomal Dominant Spastic Paraplegia Type 17	Abnormal motor nerve conduction velocity	ORPHA:100998
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased amplitu...	ORPHA:99950
Microcephaly 13, Primary, Autosomal Recessive	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyra...	OMIM:616051
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Microphthalmia With Brain And Digit Anomalies	Microcephaly, Cryptorchidism, Nail dysplasia, Inferior cerebellar vermis hypoplasia, Agenesis of ...	ORPHA:139471
D-Bifunctional Protein Deficiency	Epicanthus, Failure to thrive, Cerebral dysmyelination, Polyhydramnios, Corpus callosum atrophy, ...	OMIM:261515
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Aplasia/Hypoplasia of the cerebellum, Hypertonia, Gait disturbance, Tremor	ORPHA:1192
Pineoblastoma	Papilledema, Paralysis, Progressive visual field defects, Reduced visual acuity, Lethargy, Retino...	ORPHA:251909
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Cerebrofacioarticular Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Lymphedema, Microcephaly, Dysplastic corpus callosum, H...	ORPHA:314679
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand...	ORPHA:3078
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Fibrosis Of Extraocular Muscles, Congenital, 2	Bilateral ptosis, Congenital fibrosis of extraocular muscles	OMIM:602078
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Cryptorchidism, Obesity,...	ORPHA:3157
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Onion bulb formation, Abnormal auditory evoked potentials, S...	OMIM:601455
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
Frias Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:609640
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Inferti...	ORPHA:168563
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Harlequin Ichthyosis	Dehydration, Ectropion	ORPHA:457
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis	OMIM:617268
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity	OMIM:607831
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor...	OMIM:614105
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ...	OMIM:619092
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity	OMIM:620068
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,...	ORPHA:309263
Acromelic Frontonasal Dysplasia	Telecanthus, Cryptorchidism, Hypoplasia of the olfactory bulb, Abnormal toenail morphology, Agene...	ORPHA:1827
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Failure to thrive in infancy	OMIM:619064
Cutis Laxa, Autosomal Recessive, Type Iib	Downslanted palpebral fissures, Failure to thrive, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials	ORPHA:85446
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Downslanted palpebral fissures, Abnormal anterior horn ce...	OMIM:611890
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Failure to thrive, Short nail, Polyhydramnios	ORPHA:420794
Ogden Syndrome	Torticollis, Broad hallux, Hypertonia, Shuffling gait, Lethargy	ORPHA:276432
Craniofrontonasal Syndrome	Ridged nail, Split nail, Telecanthus, Curly hair, Unilateral breast hypoplasia, Cryptorchidism, W...	OMIM:304110
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De...	ORPHA:101085
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ptosis	OMIM:618637
Amoebiasis Due To Free-Living Amoebae	Blindness, Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum morphology, Visual ...	ORPHA:68
Oculopharyngodistal Myopathy 2	Ptosis	OMIM:618940
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Small for gestational age, Microcephaly, Hypodysplasia of the corpus callosum, Crypto...	OMIM:257300
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Microcephaly, Sparse eyebrow, Cryptorchidism, Partial agenesi...	ORPHA:3338
Biotinidase Deficiency	Ataxia, Scotoma, Optic neuropathy, Optic atrophy, Nonprogressive visual loss, Spastic paraparesis...	ORPHA:79241
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Microcephaly, Dystonia, Abnormal periventricular white matter morphology, Dilated...	OMIM:619725
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh...	ORPHA:468631
Amyotrophy, Hereditary Neuralgic	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	OMIM:162100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Microcephaly, Cryptorchidism, Cerebellar hypoplasia, Blepharophimosis, Agenesis of c...	OMIM:217980
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Gait disturbance, Progressive visual loss, Myoclonus, Cherry red ...	ORPHA:812
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	ORPHA:1390
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Central scotoma, Optic atrophy, Slow decrease in visual acuity, Distal sensory...	OMIM:601152
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Secondary Short Bowel Syndrome	Failure to thrive, Aganglionic megacolon, Dehydration, Weight loss	ORPHA:95427
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Diplopia, Amyloid deposition in the vitreous humor, Abnormal pyramidal sign, Para...	OMIM:105210
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Cryptorchidism, O...	ORPHA:899
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Degeneration of anterior horn cells, Failure to thrive, Smal...	OMIM:604320
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis	ORPHA:228396
Halperin-Birk Syndrome	Optic atrophy, Colpocephaly, Long eyelashes, Failure to thrive, Agenesis of corpus callosum	OMIM:618651
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Highly arched eyebrow, Partial agenesis of the corpus callosum, Hyp...	OMIM:619775
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ...	OMIM:300590
Glutaric Acidemia I	Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia	OMIM:231670
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural...	ORPHA:67036
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci...	OMIM:201300
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, A...	OMIM:256500
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Failure to thrive, Small for gestational age, Lethargy	OMIM:609015
Joubert Syndrome 26	Ptosis	OMIM:616784
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Large for gestational age	ORPHA:276556
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Microcephaly, Almond-shaped palpebral fissure, Agenesis of corpus c...	ORPHA:261323
Oculopharyngeal Muscular Dystrophy	Ptosis	ORPHA:270
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Ptosis	ORPHA:2958
Frontoocular Syndrome	Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:605321
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:98856
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Cryptorchidism, Decreased fertility, Dehydration, Abnormality of the Leydig cells, Failure to thr...	ORPHA:168558
Myasthenic Syndrome, Congenital, 12	Ptosis	OMIM:610542
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Lethargy, Increased body weight, Large for gestational age	ORPHA:263455
Optic Atrophy 11	Delayed CNS myelination, Optic nerve hypoplasia, Microcephaly, EEG with focal sharp waves, Optic ...	OMIM:617302
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Abnormal pyramidal sign, Ataxia	OMIM:201470
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Downslanted palpebral fissures, Optic disc coloboma, Agenesis of corpus callosum	ORPHA:52055
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis	ORPHA:589905
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Tremor, Visual loss, Myoclonus, Loss of ambulation, Right hemiplegia,...	OMIM:607426
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Hypoplastic thumbnail, Polyhydramnios, Increased nuchal translucenc...	ORPHA:1692
Desmosterolosis	Epicanthus, Failure to thrive, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly...	ORPHA:35107
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity	OMIM:302802
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Ptosis	ORPHA:1875
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low frustration tolerance, Macroorchidism, Emotional lability, Agenesis of corpus callosum, Ptosis	OMIM:309520
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Large for gestational age	ORPHA:276575
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Coffin-Siris Syndrome 11	Agenesis of corpus callosum, Low posterior hairline	OMIM:618779
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Cryptorchidism, Decreased fertility, Dehydration, Abnormality of the Leydig cells, Failure to thr...	ORPHA:289548
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Microcephaly, Dehydration, Weight loss, Leukoencephalopathy, Hypsarrhythmia, EEG abnormality	ORPHA:20
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Large for gestational age	ORPHA:276580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ptosis	OMIM:617070
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination	OMIM:618279
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Ptosis	OMIM:616324
Duplication Of The Pituitary Gland	Polyhydramnios, Microcephaly, Abnormal hypothalamus morphology, Hypoplasia of olfactory tract, De...	ORPHA:314621
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Narrow palpebral fissure, Ptosis	OMIM:301900
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Dehydration, Weight loss	ORPHA:171876
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Opisthotonus, Death in childhood, Lateral ventricle dilatation, L...	OMIM:619847
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity	ORPHA:2926
Scrub Typhus	Photophobia, Lethargy, Tremor	ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude	OMIM:618323
Meningococcal Meningitis	Photophobia, Papilledema, Paresthesia, Lethargy	ORPHA:33475
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Ptosis	OMIM:619465
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Telecanthus, Optic nerve hypoplasia, Cryptorchidism, Downslant...	OMIM:603671
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Cryptorchidism, Dehydration, Azoospermia, Decreased fertility in males, Failure to thrive, Decrea...	ORPHA:90791
Trichinellosis	Diplopia, Babinski sign, Retinal hemorrhage, Central retinal artery occlusion, Hemiparesis, Abnor...	ORPHA:863
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis	ORPHA:330054
Isovaleric Acidemia	Dehydration	OMIM:243500
11Q22.2Q22.3 Microdeletion Syndrome	Epicanthus, Thick eyebrow, Ptosis	ORPHA:444002
Alexander Disease	Cerebral calcification, Facial palsy, Megalencephaly, Depression, EEG abnormality, Abnormal auton...	ORPHA:58
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Li-Campeau Syndrome	Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:619189
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atr...	ORPHA:356961
Wolcott-Rallison Syndrome	Decreased body weight, Ascites, Dehydration, Microcephaly	ORPHA:1667
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve	ORPHA:90117
Multiple Sulfatase Deficiency	Thick eyebrow, Microcephaly, Optic atrophy, Coarse hair, Rapid neurologic deterioration, Abnormal...	ORPHA:585
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Constriction of peripheral visual field, Ataxia, Tremor, Babinski sign, Spasti...	OMIM:618527
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Hydrocephalus, Colpocephaly, Periventricular leukomalacia, Thin corpus callosum, Ve...	OMIM:619833
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,...	ORPHA:2148
Riboflavin Deficiency	Lethargy	OMIM:615026
Prieto Syndrome	Epicanthus, Ptosis	OMIM:309610
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Epicanthus, Microcephaly, Sparse eyebrow, Cerebral atrophy, Lateral ventricle ...	ORPHA:464738
Sotos Syndrome	Sparse eyebrow, Cryptorchidism, Partial agenesis of the corpus callosum, Increased body weight, S...	OMIM:117550
Cystinosis	Failure to thrive, Dehydration	ORPHA:213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormality of retinal pigmentation, Impaired vibratory sensation, Somatic se...	ORPHA:466768
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive, Opisthotonus	OMIM:210200
Stickler Syndrome, Type Vi	Downslanted palpebral fissures, Ptosis	OMIM:620022
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Dehydration, EEG abnormality, Abnormal autonomic nervous sy...	ORPHA:2131
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, U...	OMIM:618820
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age, Polyh...	OMIM:615368
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum, Lacrimal duct atresia	OMIM:300952
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616325
Hypotonia-Cystinuria Syndrome	Epicanthus, Ptosis	ORPHA:163690
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Subcortical cerebral atrophy, Conjunctivitis...	ORPHA:2273
1Q21.1 Microdeletion Syndrome	Epicanthus, Microcephaly, Cryptorchidism, Depression, Attention deficit hyperactivity disorder, F...	ORPHA:250989
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Ptosis	OMIM:616322
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Microcephaly	OMIM:615419
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Small for gestational age, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the l...	OMIM:618419
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Synophrys, Ptosis	OMIM:616083
Non-Distal Deletion 10Q	Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys	ORPHA:1581
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Generalized dystonia, Eye of the tiger anomaly of globus pallidus, Opisthotonus	ORPHA:216866
Joubert Syndrome 14	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Morning glory anomaly, Cereb...	OMIM:614424
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis	ORPHA:2743
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Pigmentary retinopathy, Homonymous hemianopia	ORPHA:79095
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Epicanthus, Brittle hair, Split nail, Cerebral dysmyelination, Mi...	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph...	OMIM:253800
Proteus Syndrome	Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Downslanted palpebral fissures, Bilateral cryptorchidism, Optic disc coloboma, Agenesis of corpus...	OMIM:300472
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Reduced cerebral white matter volume, Microcephaly, Abnormal myelination, Blepharophimosis, Downs...	OMIM:617333
Encephalitis Lethargica	Parkinsonism, Tremor, Diplopia, Photophobia, Lethargy	ORPHA:83600
Idiopathic Congenital Hypothyroidism	Lethargy, Delayed proximal femoral epiphyseal ossification	ORPHA:95717
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi...	ORPHA:563612
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Optic atrophy, Agenesis of corpus callosum	ORPHA:3301
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Blepharophimosis, High anterior hairline, Polymicrogyria, Age...	OMIM:601707
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral...	OMIM:301069
Dend Syndrome	Bilateral ptosis, Dehydration, Hypsarrhythmia	ORPHA:79134
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Epicanthus, Ptosis	ORPHA:1825
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
White-Kernohan Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Dysplastic corpus callosum, Synophrys, Broad medial eyebr...	OMIM:619426
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Blepharophimosis, Synophrys, Thick eyebrow, Ptosis	OMIM:210745
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci...	ORPHA:485421
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Cryptorchidism, Synophrys, Cerebellar hypoplasia, Attention deficit hyperactivit...	ORPHA:96092
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Leukodystrophy, Emotional lability, Punctate ...	ORPHA:309256
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Partial agenesis of the corpus callosum, Agenesis of corpus callo...	OMIM:222448
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Upper eyelid entropion, Olivopontocerebellar hypoplasia, Abnormal hair wh...	ORPHA:457284
Adult-Onset Distal Myopathy Due To Vcp Mutation	Progressive neurologic deterioration, Decreased nerve conduction velocity, Depression, Facial dip...	ORPHA:329478
3-Methylglutaconic Aciduria, Type Viib	Dehydration, Polyhydramnios, Cerebral atrophy, Microcephaly	OMIM:616271
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Blepharophimosis, Telecanthus, Ptosis	ORPHA:397973
16P13.11 Microdeletion Syndrome	Microcephaly, Cryptorchidism, EEG abnormality, Agenesis of corpus callosum, Downslanted palpebral...	ORPHA:261236
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential	OMIM:618400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Ptosis	ORPHA:2229
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Optic atrophy, Demyelinating peripheral neuropathy	OMIM:612674
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Spasticity	ORPHA:803
Orofaciodigital Syndrome V	Unilateral ptosis, Aganglionic megacolon, Unilateral cryptorchidism, Microcephaly, Optic disc col...	OMIM:174300
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Ptosis	OMIM:221320
Cerebrotendinous Xanthomatosis	Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Abnormal eyelid mor...	ORPHA:909
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Small for gestational age, Sparse eyebrow, Cryptorchidism, D...	ORPHA:506358
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis	OMIM:300580
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Microcephaly, Cryptorchidism, Optic atrophy, Depr...	ORPHA:847
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Dystonia	OMIM:277410
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Optic atrophy, Ab...	OMIM:610651
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Focal white matter lesions, Hypoplasia of the corpus callosum, C...	ORPHA:320375
Legius Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611431
Kleefstra Syndrome	Highly arched eyebrow, Microcephaly, Supernumerary nipple, Cryptorchidism, Synophrys, Obesity, Up...	ORPHA:261494
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis	ORPHA:2064
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Hooded eyelid, Polyhydramnios, Synophrys, Lo...	OMIM:619841
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy	OMIM:256600
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Trisomy 5P	Ptosis	ORPHA:1742
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:420179
Toxin-Mediated Infectious Botulism	Diplopia, Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:234200
Myasthenic Syndrome, Congenital, 10	Ptosis	OMIM:254300
Cockayne Syndrome B	Failure to thrive, Dry hair, Small for gestational age, Abnormal peripheral myelination, Abnormal...	OMIM:133540
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Lethargy	ORPHA:156
Gm1 Gangliosidosis	Tremor, Decerebrate rigidity, Cherry red spot of the macula, Ataxia, Retinopathy of prematurity, ...	ORPHA:354
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Coffin-Siris Syndrome	Sparse scalp hair, Microcephaly, Hypoplastic fifth fingernail, Cryptorchidism, Prominent eyelashe...	ORPHA:1465
Dopamine Beta-Hydroxylase Deficiency	Bilateral ptosis, Orthostatic hypotension, Dehydration, Retrograde ejaculation	ORPHA:230
Intellectual Developmental Disorder With Autism And Macrocephaly	Downslanted palpebral fissures, Ptosis	OMIM:615032
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner...	ORPHA:1791
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fa...	OMIM:211530
Coach Syndrome 1	Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar ver...	OMIM:216360
Japanese Encephalitis	Dystonia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anterior ...	ORPHA:79139
Xp21 Deletion Syndrome	Agenesis of corpus callosum, Confusion, Hypogonadotropic hypogonadism	ORPHA:261476
Chromosome 13Q33-Q34 Deletion Syndrome	Epicanthus, Small for gestational age, Microcephaly, Cryptorchidism, Anencephaly, Agenesis of cor...	OMIM:619148
Sim1-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Small hand, Obesity, Short foot, Chorioretinal hypopigmentation, ...	ORPHA:398079
Histiocytoid Cardiomyopathy	Optic atrophy, Hemiplegia, Cerebellar malformation, Failure to thrive, Agenesis of corpus callosu...	ORPHA:137675
Transcobalamin Ii Deficiency	Lethargy, Failure to thrive, Ataxia	OMIM:275350
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Failure to thrive	OMIM:614857
Cockayne Syndrome A	Failure to thrive, Dry hair, Abnormal peripheral myelination, Abnormal auditory evoked potentials...	OMIM:216400
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Irritability, Failure to thrive, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Irritability, Failure to thrive, Hypertonic dehydration	OMIM:304800
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormality of the extraocula...	ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Myopia, Speech apraxia, Dystonia, Ataxia, Waddling gait, Tremor, Inability to...	OMIM:615356
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Intention tremor	OMIM:619995
Magel2-Related Prader-Willi-Like Syndrome	Myopia, Impaired temperature sensation, Small hand, Increased body weight, Short foot, Chorioreti...	ORPHA:398069
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Postaxial ...	ORPHA:1454
Genitopatellar Syndrome	Sparse scalp hair, Microcephaly, Cryptorchidism, Fine hair, Agenesis of corpus callosum	ORPHA:85201
Encephalocraniocutaneous Lipomatosis	Alopecia, Cerebral calcification, Abnormal nasolacrimal system morphology, Absent septum pellucid...	ORPHA:2396
Terminal Osseous Dysplasia	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:300244
Semilobar Holoprosencephaly	Abnormal central motor function, Cyclopia, Cerebral visual impairment, Inability to walk, Oromoto...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal central motor function, Cyclopia, Cerebral visual impairment, Inability to walk, Oromoto...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Cyclopia, Cerebral visual impairment, Inability to walk, Oromoto...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Cyclopia, Cerebral visual impairment, Inability to walk, Oromoto...	ORPHA:93924
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Waardenburg Syndrome Type 2	Telecanthus, Ptosis	ORPHA:895
Sclerosteosis	Ptosis	ORPHA:3152
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Desmosterolosis	Epicanthus, Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corp...	OMIM:602398
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Delayed CNS myelination, Epicanthus, Supernumerary nipple, Cryptorchidism, Upslanted palpebral fi...	OMIM:619194
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Abnorma...	ORPHA:2177
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Lethargy, Failure to thrive, Ataxia	OMIM:311250
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ptosis	OMIM:254210
Opitz Gbbb Syndrome	Telecanthus, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Widow's peak, Agenesis o...	OMIM:300000
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:457365
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Incoordination, Small for gestational age, Talipes equinovarus, Lethargy, Failure to thrive	OMIM:277380
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Spinocerebellar Ataxia Type 28	Ptosis	ORPHA:101109
Citrullinemia Type Ii	Tremor, Lethargy, Mania, Decreased body mass index	ORPHA:247585
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Microphthalmia, Syndromic 13	Ptosis	OMIM:300915
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Down...	ORPHA:477817
Bohring-Opitz Syndrome	Microcephaly, Delayed myelination, Synophrys, Optic atrophy, Hypoplasia of the corpus callosum, S...	ORPHA:97297
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:162400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Epicanthus, Small for gestational age, Absent septum pellucidum, Microcephaly, Hypoplasia of the ...	OMIM:618500
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia...	OMIM:618569
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Depression, Head tremor...	ORPHA:314404
Young-Onset Parkinson Disease	Tremor, Rigidity, Diplopia, Depression, Bradykinesia, Apathy, Gait imbalance, Dystonia, Spasticit...	ORPHA:2828
Fryns Syndrome	Aganglionic megacolon, Polyhydramnios, Large for gestational age, Cryptorchidism, Hypoplasia of t...	OMIM:229850
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive	OMIM:611590
Intellectual Developmental Disorder, Autosomal Dominant 23	Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:615761
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Progressive neurologic deterioration, Partial agenesis of the corpu...	OMIM:210710
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Tongue fasciculations, Myoclonus	OMIM:614922
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Blindness, Retinal dystrophy, Ataxia	ORPHA:713
Perlman Syndrome	Polyhydramnios, Edema, Large for gestational age, Cryptorchidism, Ascites, Agenesis of corpus cal...	OMIM:267000
Glutaric Acidemia Type 3	Lethargy, Failure to thrive	ORPHA:35706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu...	OMIM:614643
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive, Cerebral palsy, Opisthotonus	OMIM:210210
Noonan Syndrome 11	Downslanted palpebral fissures, Ptosis	OMIM:618499
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueduc...	OMIM:619895
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Partial agenesis of the cor...	OMIM:304050
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Marshall-Smith Syndrome	Decreased body weight, Failure to thrive, Brittle hair, Absent septum pellucidum, Highly arched e...	OMIM:602535
Beta-Ketothiolase Deficiency	Weight loss, Edema, Dehydration	ORPHA:134
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis	ORPHA:1259
Monosomy 9P	Epicanthus, Thin nail, Highly arched eyebrow, Microcephaly, Cryptorchidism, Synophrys, Low poster...	ORPHA:261112
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Lysosomal Acid Lipase Deficiency	Psychomotor deterioration, Failure to thrive, Cachexia, Dehydration, Weight loss, Xanthelasma, Co...	ORPHA:275761
Infantile Nephropathic Cystinosis	Cognitive impairment, Abnormal cerebral white matter morphology, Failure to thrive, Dehydration	ORPHA:411629
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Optic nerve dysplasi...	OMIM:615287
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:3236
Mosaic Trisomy 14	Blepharophimosis, Ptosis	ORPHA:1703
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Neurofibromatosis-Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:638
Mcdonough Syndrome	Synophrys, Short palpebral fissure, Ptosis	ORPHA:2471
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Epicanthus, Sparse eyelashes, Sparse eyebrow, Widow's peak, Eyelid coloboma,...	ORPHA:306542
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Abnormal cortical gyration, Alopecia, Microcephaly, Porencepha...	OMIM:311200
Lenz-Majewski Hyperostotic Dwarfism	Lacrimal duct stenosis, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Chordee, Sparse...	OMIM:151050
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Failure to thrive, Lethargy	ORPHA:71212
Citrullinemia, Classic	Lethargy, Failure to thrive, Ataxia	OMIM:215700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ptosis	OMIM:605809
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Hypoplastic toenails, Basal ganglia c...	OMIM:608836
Pseudotrisomy 13 Syndrome	Microcephaly, Cryptorchidism, Upslanted palpebral fissure, Cerebellar hypoplasia, Polymicrogyria,...	OMIM:264480
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Tapered finger, Trem...	OMIM:300998
Opitz Gbbb Syndrome	Short attention span, Telecanthus, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Cry...	ORPHA:2745
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Meningocele, Thick eyebrow,...	ORPHA:894
Fryns Syndrome	Aganglionic megacolon, Polyhydramnios, Cryptorchidism, Agenesis of corpus callosum, Cerebral cort...	ORPHA:2059
Infantile Sialic Acid Storage Disease	Epicanthus, Hydrocephalus, Ptosis	OMIM:269920
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio...	ORPHA:447753
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Spinocerebellar Ataxia 10	Decreased nerve conduction velocity, Dementia, Depression	OMIM:603516
Cog5-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Latera...	ORPHA:263487
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Agenesis of corpus callosum	ORPHA:77298
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Developmental And Epileptic Encephalopathy 18	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:615476
Cleft Palate-Large Ears-Small Head Syndrome	Ptosis	ORPHA:2013
Orofaciodigital Syndrome Vi	Epicanthus, Failure to thrive, Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic ham...	OMIM:277170
Intellectual Disability-Developmental Delay-Contractures Syndrome	Ptosis	ORPHA:3454
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Beare-Stevenson Cutis Gyrata Syndrome	Hypoplastic fingernail, Optic atrophy, Agenesis of corpus callosum, Small nail, Downslanted palpe...	OMIM:123790
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Polyhydramnios, Focal polymicrogyria, Cryptorchidism, Ankyloblepharon, ...	OMIM:612651
Glioblastoma	Visual loss, Paralysis	ORPHA:360
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Microcephaly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Microcephaly...	ORPHA:363958
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive	ORPHA:2089
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:616688
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:300882
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Coffin-Siris Syndrome 4	Sparse scalp hair, Microcephaly, Hypertrichosis, Long eyelashes, Dandy-Walker malformation, Agene...	OMIM:614609
Methylmalonic Aciduria, Cbla Type	Tremor, Lethargy, Failure to thrive	OMIM:251100
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Eyelid coloboma, Agenesis of corpus callosum, Hydrops fetalis	ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Optic at...	OMIM:236670
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Bilateral cryptorchidism, Low anterior hairline, Hyperintensity of cerebral white...	OMIM:180849
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Narrow palpebral ...	OMIM:619293
Ophthalmoplegia, Familial Static	Ptosis	OMIM:165000
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Short stepped...	OMIM:168600
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Stillbirth, Cerebellar hypopl...	OMIM:243605
Distal Duplication 15Q	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:1707
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration	OMIM:251110
Opitz-Kaveggia Syndrome	Epicanthus, Cryptorchidism, Partial agenesis of the corpus callosum, Fine hair, Frontal upsweep o...	OMIM:305450
Rift Valley Fever	Retinitis, Scotoma, Paralysis, Paraparesis, Retinal hemorrhage, Reduced visual acuity, Macular ed...	ORPHA:319251
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Epicanthus, Failure to thrive in infancy, Microcephaly, Primary amenorrhea, Hypoplasia of the cor...	OMIM:619418
Thakker-Donnai Syndrome	Long palpebral fissure, Upslanted palpebral fissure, Agenesis of corpus callosum	ORPHA:1780
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Rhyns Syndrome	Ptosis	ORPHA:140976
Dermoodontodysplasia	Ptosis, Abnormal eyelid morphology	ORPHA:1660
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis	ORPHA:1067
Diabetes And Deafness, Maternally Inherited	Ptosis	OMIM:520000
Myasthenic Syndrome, Congenital, 5	Ptosis	OMIM:603034
Fanconi Anemia, Complementation Group D2	Small for gestational age, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Hypoplas...	OMIM:227646
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Juberg-Hayward Syndrome	Highly arched eyebrow, Ptosis	OMIM:216100
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis	ORPHA:2988
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Ptosis	OMIM:608930
Osteootohepatoenteric Syndrome	Failure to thrive, Dehydration, Weight loss	OMIM:619377
Vici Syndrome	Epicanthus, Schizencephaly, Hypopigmentation of hair, Cerebellar vermis hypoplasia, Microcephaly,...	OMIM:242840
Cystinosis, Nephropathic	Male infertility, Hypopigmentation of hair, Cerebral calcification, Failure to thrive in infancy,...	OMIM:219800
Myasthenic Syndrome, Congenital, 22	Ptosis	OMIM:616224
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyl...	ORPHA:475
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Ptosis	OMIM:615278
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Basal ganglia calcification, Cryptorchidism, Optic atrophy, ...	ORPHA:90321
Non-Functioning Paraganglioma	Tremor, Hypertensive retinopathy, Vocal cord paralysis, Weight loss	ORPHA:94080
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio...	ORPHA:297
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cryptorchidism, Dehydration, Fine hair, Upslanted palpebral fissure, Joint swe...	ORPHA:534
Renal Hypoplasia, Bilateral	Lethargy, Failure to thrive, Small for gestational age, Hypermetropia	ORPHA:97362
Congenital Myopathy 6 With Ophthalmoplegia	Ptosis	OMIM:605637
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Optic ...	OMIM:614947
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Decreased motor nerve conduction velocity, Cognitive impairment, Decreased sensory nerve conducti...	OMIM:616192
Thrombocytopenia, Paris-Trousseau Type	Ptosis	OMIM:188025
Monosomy 22Q13.3	Epicanthus, Palpebral edema, Lymphedema, Hypoplastic toenails, Obesity, Long eyelashes, Agenesis ...	ORPHA:48652
Coffin-Siris Syndrome 5	Long eyelashes, Thick eyebrow, Ptosis	OMIM:616938
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven...	ORPHA:2822
Joubert Syndrome 35	Telecanthus, Synophrys, Highly arched eyebrow, Ptosis	OMIM:618161
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Microcephaly, Lateral ventricle dilatation, Hyp...	OMIM:618367
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Familial Thyroid Dyshormonogenesis	Lethargy, Delayed proximal femoral epiphyseal ossification	ORPHA:95716
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Ptosis	OMIM:610539
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Attention deficit hyperactivity di...	ORPHA:2461
Foodborne Botulism	Diplopia, Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity	OMIM:270685
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Vocal cord paralysis, Optic atrophy, Distal sensory impairment, Poor f...	ORPHA:99956
Hurler Syndrome	Abnormal nerve conduction velocity, Generalized hirsutism, Thick eyebrow, Depression	ORPHA:93473
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly, Hydrocephalus, Hypopla...	ORPHA:500055
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Dry hair, Progressive neurologic deterioration,...	ORPHA:90324
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Ptosis	ORPHA:2868
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Combined Oxidative Phosphorylation Deficiency 20	Ptosis	OMIM:615917
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Anencephaly, Narrow palpebral fissure, Ptosis	OMIM:614175
Apert Syndrome	Downslanted palpebral fissures, Optic atrophy, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:613792
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis	OMIM:615009
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Ptosis	OMIM:601462
Teebi Hypertelorism Syndrome 2	Upper eyelid coloboma, Thick eyebrow, Ptosis	OMIM:619736
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy, Abnormal metacarpophalangeal joint morphology, Weight loss	ORPHA:465508
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Cerebral visual impairment, Paralysis, Visual loss, Hypertonia, Myocl...	OMIM:203700
Cockayne Syndrome	Optic disc pallor, Dry hair, Cerebral calcification, Cerebral dysmyelination, Demyelinating perip...	ORPHA:191
Hengel-Maroofian-Schols Syndrome	Epicanthus, Synophrys, Thick eyebrow, Ptosis	OMIM:619641
Argininosuccinic Aciduria	Lethargy, Failure to thrive, Ataxia	OMIM:207900
Renal Hypoplasia	Small for gestational age, Dehydration	ORPHA:93101
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Overweight, Abnormal cerebellum morphology, Delayed proximal femoral epip...	ORPHA:226307
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:270550
Wolfram Syndrome 1	Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Pigmentary ret...	OMIM:222300
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis, Talipes equinovarus	OMIM:615490
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Cryptorchidism, Agenesis of corpus callosum, Downslanted palpebr...	ORPHA:264200
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis, Camptodactyly	OMIM:620161
Brain-Lung-Thyroid Syndrome	Short attention span, Microcephaly, Cavum septum pellucidum, Failure to thrive, Agenesis of corpu...	ORPHA:209905
Tetrasomy 12P	Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis	ORPHA:884
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Decreased compound muscle action potential amplitude, Facial palsy	OMIM:603511
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:618914
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Ptosis	OMIM:616313
Oligomeganephronia	Optic disc coloboma, Small for gestational age, Dehydration	ORPHA:2260
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Congenital Myopathy With Myasthenic-Like Onset	Ptosis	ORPHA:424107
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malformation, Depression	ORPHA:221098
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Dystonia, Titubation	ORPHA:225147
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, At...	OMIM:212065
Jacobsen Syndrome	Epicanthus, Ectropion, Cryptorchidism, Cerebral atrophy, Eyelid coloboma, Downslanted palpebral f...	ORPHA:2308
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m...	ORPHA:293725
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Microcephaly, Cryptorchidism, Optic atrophy, Low posterior hai...	ORPHA:280
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ...	OMIM:620327
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Facial palsy, Optic nerve hypoplasia, Microcephaly, Almond-shaped palpebral fi...	ORPHA:508498
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Microcephaly, Cryptor...	OMIM:206900
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Ptosis, Abnormal upper motor neuron morphology	ORPHA:275872
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Diplopia, Photophobia, ...	OMIM:601104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ptosis	OMIM:615911
Shigellosis	Conjunctivitis, Failure to thrive in infancy, Dehydration	ORPHA:810
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Short metacarpal, Retinal atrophy, ...	ORPHA:85167
Developmental And Epileptic Encephalopathy 84	Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:608931
Cholera	Irritability, Dehydration	ORPHA:173
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Clumsiness, Lethargy, Failure to th...	ORPHA:90674
Myoclonus, Intractable, Neonatal	Ptosis	OMIM:617235
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Evans Syndrome	Lethargy	ORPHA:1959
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ptosis	OMIM:125250
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Severe demyelination of the white matter, Optic atroph...	ORPHA:1187
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Ptosis	OMIM:618155
Aase-Smith Syndrome I	Hydrocephalus, Ptosis	OMIM:147800
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:1778
Spinocerebellar Ataxia, Autosomal Recessive 8	Ptosis	OMIM:610743
Congenital Disorder Of Glycosylation, Type Iio	Downslanted palpebral fissures, Ptosis	OMIM:616828
Holoprosencephaly 4	Ptosis, Semilobar holoprosencephaly	OMIM:142946
Perlman Syndrome	Epicanthus, Ptosis	ORPHA:2849
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Orofaciodigital Syndrome Type 1	Epicanthus, Brittle hair, Telecanthus, Alopecia, Agenesis of corpus callosum, Coarse hair, Sparse...	ORPHA:2750
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Cryptorchidism, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Ptosis	OMIM:618748
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Sparse scalp hair, Entropion, Sparse eyelashes, Small for gestational age, Alopec...	OMIM:264090
Freeman-Sheldon Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2053
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy	OMIM:146500
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood	OMIM:612301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypogonadotropic hypogonadism, Frontal balding, Abnormality of the menstrual cycle, Decreased fer...	ORPHA:90794
Posterior Column Ataxia With Retinitis Pigmentosa	Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:609033
Isolated Permanent Neonatal Diabetes Mellitus	Bilateral ptosis, Failure to thrive, Dehydration, Weight loss	ORPHA:99885
Fetal Trimethadione Syndrome	Epicanthus, Synophrys, Ptosis	ORPHA:1913
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Ptosis	ORPHA:1154
Spinocerebellar Ataxia 28	Ptosis	OMIM:610246
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Bowing of the long bones, Ataxia, Retinal telangiectasia, Tremor, Metaphyseal sclerosi...	OMIM:612199
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Retinal hemorrhage, Athetosi...	ORPHA:25
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callosum, Dysgenesi...	OMIM:619479
Neu-Laxova Syndrome 1	Ablepharon, Polyhydramnios, Absent eyelashes, Cryptorchidism, Stillbirth, Lissencephaly, Neonatal...	OMIM:256520
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Downslanted palpebral fissures, Long eyelashes, Ptosis	OMIM:617523
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Tremor, Central Y-shaped...	ORPHA:2754
Hadziselimovic Syndrome	Epicanthus, Ptosis	OMIM:612946
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Polyhydramnios,...	OMIM:619488
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Diplopia, Babinski sign, Vocal cord paralysis, Gait ata...	ORPHA:268882
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis	OMIM:608423
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Cryptorchidism, Increased nuchal tran...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Cryptorchidism, Increased nuchal tran...	ORPHA:352665
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Ptosis	ORPHA:1473
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Congenital bilat...	ORPHA:91411
Keipert Syndrome	Epicanthus, Ptosis	ORPHA:2662
Noonan Syndrome 9	Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:616559
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Cognitive impairment...	OMIM:164400
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis	ORPHA:663
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Lethargy, Small for gestational age, Obesity	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Holocarboxylase Synthetase Deficiency	Lethargy, Hypertonia	OMIM:253270
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Highly arched eyebrow, Hypoplasia of the pons, Cryptorchidism, Part...	OMIM:620305
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Pachygyria, Agenesis of corpus callosum, Delayed CNS myelination, Cryptorchidism, Opti...	OMIM:607872
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:157835
15Q Overgrowth Syndrome	Downslanted palpebral fissures, Telecanthus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity	OMIM:614436
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, EEG ab...	ORPHA:50
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ...	OMIM:617799
Richieri-Costa/Guion-Almeida Syndrome	Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis	OMIM:268850
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Cerebellar hypoplasia, Abno...	ORPHA:280210
Houge-Janssens Syndrome 1	Hydrocephalus, Downslanted palpebral fissures, Ptosis	OMIM:616355
Bartter Syndrome Type 4	Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Emotional labil...	ORPHA:89938
Pearson Syndrome	Small for gestational age, Microcephaly, Hydrops fetalis, Dehydration, Corneal stromal edema, Ptosis	ORPHA:699
Colchicine Poisoning	Alopecia, Dehydration	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric...	OMIM:611209
Myopathy, Centronuclear, 1	Ptosis	OMIM:160150
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Ptosis	OMIM:615280
Neuroleptic Malignant Syndrome	Delirium, Abnormal autonomic nervous system physiology, Dehydration	ORPHA:94093
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hemiparesis, Lethargy, Failure to thrive	OMIM:620233
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Cryptorchidism, Agenesis of corpus callosum, Cerebellar...	OMIM:101200
Mosaic Trisomy 8	Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size	ORPHA:96061
Necrotizing Enterocolitis	Lethargy, Small for gestational age	ORPHA:391673
Congenital Myopathy 19	Ptosis	OMIM:618578
Arthrogryposis, Distal, Type 5	Blepharophimosis, Epicanthus, Ptosis	OMIM:108145
Porphyria, Acute Intermittent	Depression, Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
King-Denborough Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:619542
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
16Q24.3 Microdeletion Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:261250
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Absent septum pellucidum, Supernumerary nipple, Cryptorchidism, Hypoplasia of the cor...	OMIM:613884
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Small for gestational age, Hydrops fetalis, Dehydration	OMIM:557000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Long eyelashes, Ptosis	OMIM:619076
Leukodystrophy, Hypomyelinating, 20	Ptosis	OMIM:619071
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Paternal Uniparental Disomy Of Chromosome 6	Cryptorchidism, Oligohydramnios, Dehydration, Shallow orbits, Hypoplastic fingernail	ORPHA:96191
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Agenesis of corpus callosum	ORPHA:556955
Crouzon Syndrome	Hydrocephalus, Conjunctivitis, Ptosis	ORPHA:207
Auriculocondylar Syndrome 2A	Ptosis	OMIM:614669
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:391372
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Edema, Pericardial effusion, Decreased nerve conduction velocity, Large...	ORPHA:167
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616801
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Edema, Paronychia, Dehydration, Anonychia, Nail dystrophy, Failure to thrive, Abnormali...	ORPHA:79404
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c...	OMIM:301043
Inclusion Body Myopathy And Brain White Matter Abnormalities	Ptosis	OMIM:619733
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Ptosis	ORPHA:93262
Multifocal Motor Neuropathy	Motor conduction block	ORPHA:641
Acrocallosal Syndrome	Epicanthus, Cryptorchidism, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Agenesis of...	OMIM:200990
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Ptosis	OMIM:619566
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Facial pa...	ORPHA:456312
Orofaciodigital Syndrome Xiv	Telecanthus, Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Partial agenesis of the ...	OMIM:615948
Orofaciodigital Syndrome Type 14	Telecanthus, Microcephaly, Bilateral cryptorchidism, Partial agenesis of the corpus callosum, Ups...	ORPHA:434179
Lenz-Majewski Hyperostotic Dwarfism	Abnormal nasolacrimal system morphology, Facial palsy, Absent septum pellucidum, Cryptorchidism, ...	ORPHA:2658
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Cranial nerve compression, Dehydration, Weight loss, Depression,...	ORPHA:652
Coffin-Siris Syndrome 3	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614608
Coach Syndrome 3	Ptosis	OMIM:619113
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:619075
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
Microsporidiosis	Cachexia, Dehydration, Weight loss, Keratoconjunctivitis, Prostatitis	ORPHA:2552
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Paralysis	ORPHA:83601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Retinal atrophy, Optic atrophy, Spasticity, Coloboma, Hypoplasia of the retina, Retinal d...	OMIM:253280
Osteopathia Striata With Cranial Sclerosis	Epicanthus, Facial palsy, Polyhydramnios, Partial agenesis of the corpus callosum, Failure to thr...	OMIM:300373
Myasthenic Syndrome, Congenital, 24, Presynaptic	Ptosis	OMIM:618198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Ptosis	OMIM:618098
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Bilateral ptosis, Ptosis	OMIM:616479
Wagr Syndrome	Ptosis	ORPHA:893
Yunis-Varon Syndrome	Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Increased nu...	ORPHA:3472
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis	ORPHA:73246
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Lethargy, Depression	ORPHA:99832
Dpagt1-Cdg	Failure to thrive, Ataxia, Arachnodactyly, Akinesia, Tremor, Abnormal cerebellum morphology, Nyct...	ORPHA:86309
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:618659
Inhalational Botulism	Diplopia, Paralysis	ORPHA:254504
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Dementia, Hyperintensity of cerebral white matter on MRI, Em...	ORPHA:512
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis	OMIM:615156
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Abnormality of the orbital region, Cerebellar hypoplasia, A...	ORPHA:42775
Oculopharyngodistal Myopathy 4	Ptosis	OMIM:619790
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Ohdo Syndrome	Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis	OMIM:249620
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	OMIM:210700
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Generalized edema, Microcephaly	OMIM:617478
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal...	ORPHA:477993
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ptosis	OMIM:252011
Myasthenic Syndrome, Congenital, 14	Ptosis	OMIM:616228
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity	ORPHA:397744
Wolf-Hirschhorn Syndrome	Epicanthus, Small for gestational age, Absent septum pellucidum, Highly arched eyebrow, Microceph...	OMIM:194190
Fountain Syndrome	Epicanthus, Spina bifida, Synophrys, Spina bifida occulta, Thick eyebrow, Ptosis	ORPHA:3219
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:619869
Dengue Fever	Lethargy	ORPHA:99828
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Gitelman Syndrome	Ataxia, Paralysis, Paresthesia, Failure to thrive, Blurred vision	OMIM:263800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Small for gestational age, Highly arched eyebrow, Microcephaly, Par...	OMIM:220111
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ptosis	OMIM:617468
Distal Duplication 6P	Abnormal eyelash morphology, Blepharophimosis, Ptosis	ORPHA:1745
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Joubert Syndrome 30	Ptosis	OMIM:617622
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Colpocephaly, Chordee, Agenesis of corpus callosum	OMIM:309801
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
Acrofrontofacionasal Dysostosis	Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1784
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Microcephaly, Cryptorchidism, Optic atrophy, Obesity, Ge...	ORPHA:1606
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissure...	OMIM:620098
Wilson Disease	Edema, Decreased nerve conduction velocity, Pedal edema, Dementia, Mixed demyelinating and axonal...	OMIM:277900
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C...	OMIM:619487
Joubert Syndrome 7	Encephalocele, Ptosis	OMIM:611560
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Spina bifida occulta, Ptosis	ORPHA:1185
Monosomy 18P	Epicanthus, Holoprosencephaly, Ptosis	ORPHA:1598
Noonan Syndrome 5	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611553
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Microcephaly, Colpocephaly, Cerebellar vermis hypoplasia, Dystonia	OMIM:620083
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal corpus callosum morphology, Abnor...	ORPHA:457279
Coffin-Siris Syndrome 2	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614607
Distal Deletion 10Q	Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Cavum septum pellucidum, Infer...	ORPHA:96148
Spinocerebellar Ataxia 47	Ptosis	OMIM:617931
Holoprosencephaly 7	Microcephaly, Partial agenesis of the corpus callosum, Synophrys, Upslanted palpebral fissure, Hy...	OMIM:610828
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Failure to thrive	ORPHA:79284
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	ORPHA:2617
Andersen Cardiodysrhythmic Periodic Paralysis	Short metacarpal, Toe syndactyly, Periodic paralysis, Short metatarsal, Small hand, Small finger,...	OMIM:170390
3Mc Syndrome	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Spina bifida occulta, ...	ORPHA:293843
Muenke Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:602849
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Failure to thrive, Entropion, Slender build, Hypogonadotropic hypogonadism, Co...	ORPHA:3455
Chromosome 5Q12 Deletion Syndrome	Long palpebral fissure, Epicanthus, Ptosis	OMIM:615668
Trisomy 8P	Microcephaly, Cryptorchidism, Low posterior hairline, Upslanted palpebral fissure, Agenesis of co...	ORPHA:264450
X-Linked Mandibulofacial Dysostosis	Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1131
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Weight loss	ORPHA:199299
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Aarskog-Scott Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:915
Buratti-Harel Syndrome	Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:619314
Den Hoed-De Boer-Voisin Syndrome	Microcephaly, Tremor, Death in adolescence, Lateral ventricle dilatation, Secondary microcephaly,...	OMIM:619229
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Upslanted palpebral fissure, Epicanthus, Horizontal eyebrow, Ptosis	ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissures, Thick eyebrow...	OMIM:617061
Robinow-Sorauf Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Shallow orbits	OMIM:180750
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Confusion, Abnormal cranial nerve morpho...	ORPHA:79138
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
6Q Terminal Deletion Syndrome	Abnormal cerebral white matter morphology, Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the...	ORPHA:75857
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Hydrocephalus, Ptosis	OMIM:603387
Microphthalmia With Linear Skin Defects Syndrome	Abnormal nasolacrimal system morphology, Absent septum pellucidum, Abnormal testis morphology, Ab...	ORPHA:2556
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra...	OMIM:229400
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Highly arched eyebrow, Ptosis	ORPHA:2319
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Proximal Myopathy With Extrapyramidal Signs	Ptosis	ORPHA:401768
Congenital Myopathy 5 With Cardiomyopathy	Ptosis	OMIM:611705
Noonan Syndrome 8	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615355
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal sensory nerve conduction velocity	ORPHA:88628
Coffin-Siris Syndrome 1	Sparse scalp hair, Delayed CNS myelination, Dry hair, Dandy-Walker malformation, Microcephaly, Hy...	OMIM:135900
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2496
Congenital Myopathy 4A, Autosomal Dominant	Ptosis	OMIM:255310
Simpson-Golabi-Behmel Syndrome	Epicanthus, Polyhydramnios, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Sm...	ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Tremor, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, Cerebellar hypoplasia	OMIM:300967
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis	OMIM:608624
Pyruvate Dehydrogenase E2 Deficiency	Ptosis	OMIM:245348
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure...	OMIM:619087
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Antecubital pterygium, Po...	ORPHA:2990
Aniridia-Absent Patella Syndrome	Ptosis	ORPHA:1069
Meckel Syndrome, Type 1	Ptosis, Microcephaly, Cryptorchidism, Anencephaly, Cerebellar hypoplasia, Epicanthus inversus, Da...	OMIM:249000
Osteopetrosis, Autosomal Recessive 3	Optic nerve compression, Visual loss, Diaphyseal sclerosis, Periodic hypokalemic paresis, Visual ...	OMIM:259730
Monosomy 18Q	Epicanthus, Slender build, Microcephaly, Bilateral cryptorchidism, Diffuse white matter abnormali...	ORPHA:1600
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, Microcephaly, Anencephaly, Agenesis of corpus callosum	ORPHA:96176
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Absent septum pellu...	ORPHA:95494
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Bainbridge-Ropers Syndrome	Death in infancy, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	OMIM:615485
Muenke Syndrome	Hydrocephalus, Ptosis	ORPHA:53271
Khan-Khan-Katsanis Syndrome	Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcephaly	OMIM:618460
Pontocerebellar Hypoplasia, Type 16	Ptosis	OMIM:619527
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Irritability, Dehydration	ORPHA:90038
Hyperoxaluria, Primary, Type I	Optic neuropathy, Optic atrophy, Dehydration	OMIM:259900
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Familial Hypoaldosteronism	Lethargy, Failure to thrive	ORPHA:427
Rere-Related Neurodevelopmental Syndrome	Blepharophimosis, Epicanthus, Broad eyebrow, Ptosis	ORPHA:494344
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis	ORPHA:2511
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:110100
Hartsfield Syndrome	Cryptorchidism, Epicanthus, Agenesis of corpus callosum, Microcephaly	OMIM:615465
Zttk Syndrome	Curly hair, Epicanthus, Failure to thrive, Sparse eyebrow, Dysplastic corpus callosum, Optic atro...	OMIM:617140
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Bradyphrenia, Caudate atrophy, Short atte...	ORPHA:2388
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Reduced visual acuity, Coloboma, Macular hypoplasia, Aniridia	ORPHA:2334
Distal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:18
Ichthyosis, Congenital, Autosomal Recessive 2	Short toe, Short finger, Paralysis	OMIM:242100
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased compound muscle ...	OMIM:602433
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Silver-gray hair, Hypopigmentation of hair	OMIM:214500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Ptosis	OMIM:615351
Myopathy, Centronuclear, 2	Ptosis	OMIM:255200
Visual Impairment And Progressive Phthisis Bulbi	Ptosis	OMIM:618283
Spastic Ataxia 5, Autosomal Recessive	Ptosis	OMIM:614487
Chromosome 2P16.1-P15 Deletion Syndrome	Telecanthus, Epicanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissur...	OMIM:612513
Gabriele-De Vries Syndrome	Tremor, Lateral ventricle dilatation, Cortical dysplasia, Dystonia	OMIM:617557
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Cardiac Valvular Dysplasia, X-Linked	Ptosis	OMIM:314400
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Hydrocephalus, Synophrys, Narrow pa...	OMIM:613776
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616323
Childhood-Onset Nemaline Myopathy	Ptosis	ORPHA:171439
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:617190
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Ptosis	OMIM:243180
Tyrosinemia Type 2	Photophobia, Visual loss, Ataxia, Tremor	ORPHA:28378
Hypotonia-Cystinuria Syndrome	Long eyelashes, Ptosis	OMIM:606407
Developmental And Epileptic Encephalopathy 110	Ptosis	OMIM:620149
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Polyhydramnios, Hydrops fetalis, Absent fingernail, Pachygyria, Age...	OMIM:216340
Rubinstein-Taybi Syndrome	Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpeb...	ORPHA:783
Vipoma	Ascites, Dehydration, Weight loss	ORPHA:97282
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Ptosis	OMIM:247410
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Optic atrophy, Apathy, Dystonia, Visual impairment	OMIM:610505
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Genitopatellar Syndrome	Sparse scalp hair, Polyhydramnios, Microcephaly, Cryptorchidism, Colpocephaly, Downslanted palpeb...	OMIM:606170
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Epicanthus, Partial agenesis of the corpus callosum, Unilateral facial palsy, Downslanted palpebr...	OMIM:619480
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissu...	OMIM:613026
Noonan Syndrome 4	Epicanthus, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:610733
Mitochondrial Dna Depletion Syndrome 11	Ptosis	OMIM:615084
Neonatal Adrenoleukodystrophy	Ptosis	ORPHA:44
Juvenile Nephropathic Cystinosis	Failure to thrive, Dehydration	ORPHA:411634
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morpholo...	OMIM:300868
Congenital Myopathy 1B, Autosomal Recessive	Ptosis	OMIM:255320
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Failure to thrive, Polyhydramnios	ORPHA:223
Mowat-Wilson Syndrome	Ptosis, Aganglionic megacolon, Supernumerary nipple, Microcephaly, Aplasia/Hypoplasia of the cere...	OMIM:235730
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Normal pressure hydrocephalus, Downslanted palpebral fissures, Ptosis	OMIM:620351
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Ptosis	OMIM:616549
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity	OMIM:176500
Cystic Fibrosis	Male infertility, Failure to thrive, Dehydration	OMIM:219700
Polyvalvular Heart Disease Syndrome	Ptosis	ORPHA:228410
Short Stature And Facioauriculothoracic Malformations	Ptosis	OMIM:609654
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Myelomeningocele, Synophrys, Ptosis	ORPHA:3440
Congenital Disorder Of Glycosylation, Type 2V	Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619493
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis	OMIM:618170
Laryngeal Abductor Paralysis	Vocal cord paralysis, Talipes equinovarus	OMIM:150260
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Ptosis	ORPHA:66629
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Hypertensive retinopathy, Vocal cord paralysis, Weight loss	ORPHA:276621
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Blepharophimosis, Meningocele, Ptosis	ORPHA:2031
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Visceral Myopathy, Familial, With External Ophthalmoplegia	Ptosis	OMIM:277320
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:127
Tukel Syndrome	Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Weaver Syndrome	Lateral ventricle dilatation, Absent septum pellucidum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:277590
Jackson-Weiss Syndrome	Ptosis	ORPHA:1540
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ptosis	ORPHA:313772
Schwartz-Jampel Syndrome, Type 1	Blepharophimosis, Ptosis, Narrow palpebral fissure, Long eyelashes in irregular rows	OMIM:255800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxi...	ORPHA:2072
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Tremor, Vocal cord paralysis, Weight loss, Aniridia, Retinal capillary ...	ORPHA:29072
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration	OMIM:601678
Dystonia 34, Myoclonic	Ptosis	OMIM:619724
22Q11.2 Duplication Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1727
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Demyelinating peripheral neuropathy	ORPHA:90658
Marburg Hemorrhagic Fever	Orchitis, Conjunctival hyperemia, Confusion, Dehydration	ORPHA:99826
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 toe syndactyly, Short foot, ...	ORPHA:37553
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Epicanthus, Failure to thrive, Aganglionic megacolon, Dandy-Walker malf...	OMIM:270400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Hydrocephalus, Downslanted palpebral fissures, Ptosis	OMIM:104350
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Ptosis	OMIM:618451
Leigh Syndrome	Ptosis	OMIM:256000
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615829
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Ptosis	ORPHA:363429
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Ptosis	ORPHA:1915
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Broad finger, Dystonia, Episodic ataxia, ...	ORPHA:1934
Hereditary Sensory And Autonomic Neuropathy Type 1	Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials	ORPHA:36386
Congenital Myasthenic Syndromes With Glycosylation Defect	Ptosis	ORPHA:353327
Intestinal Botulism	Ptosis	ORPHA:178481
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Dysplastic corpus callosum, Chiari type I malformation, Cerebellar...	ORPHA:466791
Bartter Syndrome, Type 2, Antenatal	Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration	OMIM:241200
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Delayed CNS myelination, Epicanthus, Small for gestational age, Hy...	OMIM:613406
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Joubert Syndrome 8	Occipital encephalocele, Ptosis	OMIM:612291
Complete Atrioventricular Septal Defect	Lethargy, Failure to thrive	ORPHA:1329
Trisomy 17P	Hydrocephalus, Downslanted palpebral fissures, Broad eyebrow, Ptosis	ORPHA:261290
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Ptosis	OMIM:239710
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Periventricular leukomalacia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cere...	ORPHA:500150
Codas Syndrome	Epicanthus, Ptosis	ORPHA:1458
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypo...	ORPHA:959
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis	ORPHA:314655
Acrocraniofacial Dysostosis	Telecanthus, Spina bifida occulta, Downslanted palpebral fissures, Ptosis	ORPHA:949
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ptosis	OMIM:619046
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Synophrys, Blepharophimosis, Epi...	OMIM:257920
Kury-Isidor Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:619762
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Highly arched eyebrow, Ptosis	ORPHA:2318
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ptosis	ORPHA:352447
Ververi-Brady Syndrome	Upslanted palpebral fissure, Ptosis	OMIM:617982
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Microcephaly, Cryptorchidism, Optic atrophy, Pat...	OMIM:305600
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Ptosis	OMIM:606220
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:300260
Arthrogryposis, Distal, Type 2A	Epicanthus, Telecanthus, Blepharophimosis, Spina bifida occulta, Ptosis	OMIM:193700
Baraitser-Winter Cerebrofrontofacial Syndrome	Telecanthus, Epicanthus, Palpebral edema, Highly arched eyebrow, Euryblepharon, Long palpebral fi...	ORPHA:2995
Hydrolethalus Syndrome 1	Absent septum pellucidum, Polyhydramnios, Abnormal cortical gyration, Anencephaly, Stillbirth, Ag...	OMIM:236680
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Delayed proximal femoral epiphyseal ossification	ORPHA:90673
Congenital Disorder Of Deglycosylation 1	Delayed CNS myelination, Microcephaly, Delayed myelination, Decreased body weight, Decreased sens...	OMIM:615273
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude	OMIM:620080
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Cirrhosis, Familial	Lethargy	OMIM:215600
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Ptosis	ORPHA:531151
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Ptosis	ORPHA:2522
Oculocerebrocutaneous Syndrome	Ptosis, Hydrocephalus, Eyelid coloboma	ORPHA:1647
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis	OMIM:613077
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital bilateral ptosis, Ptosis	ORPHA:73272
Microphthalmia, Isolated, With Coloboma 9	Narrow palpebral fissure, Ptosis	OMIM:615145
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Eversion of latera...	OMIM:616737
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:256840
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Long eyelashes, Blepharophimosis, Downslanted palpebral ...	ORPHA:261349
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Hydrocephalus, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:613603
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Fetal Hydantoin Syndrome	Epicanthus, Ptosis	ORPHA:1912
Char Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:46627
Postsynaptic Congenital Myasthenic Syndromes	Ptosis	ORPHA:98913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Ptosis	OMIM:258450
Wieacker-Wolff Syndrome	Upslanted palpebral fissure, Ptosis	OMIM:314580
Frontorhiny	Encephalocele, Epicanthus, Basal encephalocele, Cranium bifidum occultum, Ptosis	ORPHA:391474
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	ORPHA:33001
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Abnormal shape of the palpebral fissure, Downslanted palpebral fissu...	ORPHA:363659
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Ptosis	ORPHA:2824
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:3068
Orofaciodigital Syndrome Xvi	Short palpebral fissure, Ptosis	OMIM:617563
Myopathy, Myofibrillar, 8	Ptosis	OMIM:617258
Joubert Syndrome 37	Ptosis	OMIM:619185
Sifrim-Hitz-Weiss Syndrome	Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Ptosis	OMIM:617159
Ruvalcaba Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:3121
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:263520
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasolacrimal duct ob...	OMIM:610759
Peters-Plus Syndrome	Polyhydramnios, Microcephaly, Cryptorchidism, Cerebral atrophy, Upslanted palpebral fissure, Narr...	OMIM:261540
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Pde4D Haploinsufficiency Syndrome	Long palpebral fissure, Narrow palpebral fissure, Ptosis	ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o...	OMIM:300896
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Partial agenesi...	OMIM:610829
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long eyelashes, Short palpebral fissure, Highly arched eyebrow, Ptosis	OMIM:615866
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Ptosis	OMIM:616592
Mucopolysaccharidosis Type 2	Papilledema, Short attention span, Progressive neurologic deterioration, Decreased nerve conducti...	ORPHA:580
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Ptosis	OMIM:220500
Arthrogryposis, Distal, Type 5D	Ptosis, Highly arched eyebrow, Lagophthalmos	OMIM:615065
Proximal Renal Tubular Acidosis	Failure to thrive, Dehydration	ORPHA:47159
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt...	OMIM:178110
Iatrogenic Botulism	Ptosis	ORPHA:254509
Lateral Meningocele Syndrome	Epicanthus, Meningocele, Downslanted palpebral fissures, Ptosis	ORPHA:2789
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb...	ORPHA:261537
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Epicanthus, Lacrimal duct stenosis, Ptosis	ORPHA:457193
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati...	ORPHA:141099
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy, Failure to thrive	OMIM:617156
Friedreich Ataxia	Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action...	OMIM:229300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb...	ORPHA:261552
Cenani-Lenz Syndrome	Ectropion, Downslanted palpebral fissures, Ptosis	ORPHA:3258
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:3134
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity	OMIM:613640
Cdags Syndrome	Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis	OMIM:603116
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Ptosis	OMIM:618798
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Nasolacrimal duct obstructio...	OMIM:147791
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Microcephaly, Opisthotonus	OMIM:614098
Wound Botulism	Ptosis	ORPHA:178475
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Ptosis	ORPHA:364028
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:606851
3Mc Syndrome 3	Blepharophimosis, Epicanthus inversus, Highly arched eyebrow, Ptosis	OMIM:248340
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pterygium, Intercru...	OMIM:265000
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:609460
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ptosis	OMIM:609286
Microcephaly-Capillary Malformation Syndrome	Ptosis	OMIM:614261
Cardiofaciocutaneous Syndrome	Epicanthus, Abnormal eyelash morphology, Hydrocephalus, Sparse or absent eyelashes, Long palpebra...	ORPHA:1340
Gjc2-Related Late-Onset Primary Lymphedema	Ptosis	ORPHA:568051
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis	ORPHA:257
Arthrogryposis, Distal, Type 1A	Ptosis	OMIM:108120
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Small for gestational age, Lagophthalmos, Bilateral ptosis, Delayed myelinatio...	ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 7	Ptosis	OMIM:613559
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia	OMIM:601374
Posterior Urethral Valve	Lethargy	ORPHA:93110
Lateral Meningocele Syndrome	Telecanthus, Hydrocephalus, Meningocele, Downslanted palpebral fissures, Ptosis	OMIM:130720
Insulin-Like Growth Factor I Deficiency	Ptosis	OMIM:608747
8Q21.11 Microdeletion Syndrome	Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:284160
Diamond-Blackfan Anemia	Small for gestational age, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Triph...	ORPHA:124
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Ptosis	OMIM:212112
Wieacker-Wolff Syndrome, Female-Restricted	Ptosis	OMIM:301041
Exercise-Induced Malignant Hyperthermia	Lethargy, Ataxia	ORPHA:466650
Oculogastrointestinal Muscular Dystrophy	Ptosis	ORPHA:1876
Refsum Disease, Classic	Ptosis	OMIM:266500
Koolen-De Vries Syndrome	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	ORPHA:96169
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Tremor, Diplopia, Weight loss, Hemi...	ORPHA:91347
Arthrogryposis, Distal, Type 3	Epicanthus, Ptosis	OMIM:114300
Tyshchenko Syndrome	Ptosis	OMIM:615102
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Thin eyebrow, Ptosis	OMIM:618000
Holoprosencephaly 1	Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Ptosis	OMIM:612073
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Decreased fe...	ORPHA:285
Spinocerebellar Ataxia 36	Ptosis	OMIM:614153
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:614230
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Absent eyelashes, Hydrocephalus, Palpebral thickening, Downslanted pa...	OMIM:115150
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy	OMIM:614863
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Ptosis	ORPHA:521411
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:618050
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb...	ORPHA:2152
Glycerol Kinase Deficiency	Lethargy, Small for gestational age	OMIM:307030
Baller-Gerold Syndrome	Epicanthus, Optic nerve hypoplasia, Optic atrophy, Agenesis of corpus callosum, Polymicrogyria, D...	OMIM:218600
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Cryptorchidism, Hydrops fetalis, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	ORPHA:93271
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis	OMIM:606232
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:619758
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy	ORPHA:101076
Autosomal Dominant Optic Atrophy, Classic Form	Ptosis	ORPHA:98673
Branchio-Oculo-Facial Syndrome	Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis	ORPHA:1297
Myasthenic Syndrome, Congenital, 20, Presynaptic	Ptosis	OMIM:617143
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis	ORPHA:1323
Axial Spondylometaphyseal Dysplasia	Ptosis	ORPHA:168549
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:67045
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	ORPHA:177907
Simpson-Golabi-Behmel Syndrome, Type 1	Epicanthus, Cerebellar vermis hypoplasia, Short nail, Polyhydramnios, Supernumerary nipple, Crypt...	OMIM:312870
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Downslanted palpebral fissures, Ptosis	ORPHA:1555
3Mc Syndrome 2	Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis	OMIM:265050
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis	ORPHA:13
Six2-Related Frontonasal Dysplasia	Epicanthus inversus, Ptosis	ORPHA:488437
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral fissure, Ptosis	ORPHA:319182
Carey-Fineman-Ziter Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1358
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Ptosis	ORPHA:2728
Infant Botulism	Keratoconjunctivitis sicca, Ptosis	ORPHA:178478
Rhyns Syndrome	Ptosis	OMIM:602152
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:244450
Myasthenia Gravis	Ptosis	OMIM:254200
Autosomal Dominant Centronuclear Myopathy	Ptosis	ORPHA:169189
Unilateral Polymicrogyria	Perisylvian polymicrogyria, Abnormal posturing, Cortical dysplasia, Microcephaly	ORPHA:268943
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Blepharophimosis, Telecanthus, Long eyelashes, Ptosis	OMIM:604314
Van Maldergem Syndrome 2	Epicanthus, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:615546
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:300895
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Ptosis	OMIM:300845
Pfeiffer Syndrome	Ptosis	ORPHA:710
Myasthenia, Limb-Girdle, Autoimmune	Ptosis	OMIM:159400
Van Maldergem Syndrome 1	Blepharophimosis, Epicanthus, Short palpebral fissure, Ptosis	OMIM:601390
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:305400
Distal Deletion 3P	Blepharophimosis, Epicanthus, Telecanthus, Ptosis	ORPHA:1620
Reni Syndrome	Ptosis	OMIM:617575
X-Linked Creatine Transporter Deficiency	Ptosis	ORPHA:52503
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Ptosis	ORPHA:2712
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Ptosis	OMIM:605627
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	OMIM:153400
Machado-Joseph Disease	Ptosis	OMIM:109150
Lysinuric Protein Intolerance	Lethargy, Failure to thrive	ORPHA:470
Holoprosencephaly	Encephalocele, Epicanthus, Highly arched eyebrow, Hydrocephalus, Synophrys, Spinal dysraphism, Up...	ORPHA:2162
Prolidase Deficiency	Ptosis	OMIM:170100
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:312830
Congenital Myopathy 13	Telecanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:255995
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow...	OMIM:154500
Kbg Syndrome	Telecanthus, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Pt...	OMIM:148050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Keratoconjunctivitis sicca, Hydrocephalus, Thick eyebrow, Ptosis	OMIM:616007
Refsum Disease	Ptosis	ORPHA:773
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Hydrocephalus, Shallow orbits, Downslanted palpebral fissures, Ptosis	OMIM:182212
Chromosome 18P Deletion Syndrome	Epicanthus, Ptosis	OMIM:146390
Typical Nemaline Myopathy	Ptosis	ORPHA:171436
Acrofrontofacionasal Dysostosis 1	Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Lathosterolosis	Epicanthus, Meningocele, Downslanted palpebral fissures, Ptosis	ORPHA:46059
Congenital Multicore Myopathy With External Ophthalmoplegia	Ptosis	ORPHA:98905
Joubert Syndrome 1	Ptosis, Epicanthus, Highly arched eyebrow, Occipital myelomeningocele	OMIM:213300
Friedreich Ataxia	Decreased motor nerve conduction velocity, Optic atrophy	ORPHA:95
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upslanted palpebral fissure, D...	OMIM:617506
Glycine Encephalopathy With Normal Serum Glycine	Long eyelashes, Ptosis	OMIM:617301
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Upslanted palpebral fissure, Telecanthus, Ptosis	OMIM:620224
Townes-Brocks Syndrome	Blepharophimosis, Cryptorchidism, Limbal dermoid, Failure to thrive, Agenesis of corpus callosum	ORPHA:857
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Ptosis	OMIM:616723
X-Linked Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98863
Au-Kline Syndrome	Lagophthalmos, Lipomyelomeningocele, Shallow orbits, Long palpebral fissure, Downslanted palpebra...	OMIM:616580
Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98853
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2215
Rapp-Hodgkin Syndrome	Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis	OMIM:129400
Combined Oxidative Phosphorylation Defect Type 7	Ptosis	ORPHA:254930
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Long eyelashes, Ptosis	OMIM:618268
Koolen-De Vries Syndrome	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	OMIM:610443
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis	OMIM:167100
2Q31.1 Microdeletion Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	ORPHA:251014
Wagro Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:612469
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Hydrocephalus, Blepharophimosis, Spina bifida occulta, Sparse la...	ORPHA:235
Gitelman Syndrome	Failure to thrive, Paresthesia, Paralysis, Blurred vision	ORPHA:358
Carey-Fineman-Ziter Syndrome 1	Ptosis, Epicanthus, Downslanted palpebral fissures, Lagophthalmos	OMIM:254940
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Ptosis	OMIM:309900
Noonan Syndrome 10	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616564
Fructose Intolerance, Hereditary	Lethargy, Failure to thrive	OMIM:229600
Autosomal Recessive Ataxia, Beauce Type	Ptosis	ORPHA:88644
Myasthenic Syndrome, Congenital, 19	Ptosis	OMIM:616720
Kearns-Sayre Syndrome	Ptosis	OMIM:530000
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Epicanthus inversus, Ptosis	OMIM:617062
Loeys-Dietz Syndrome 4	Downslanted palpebral fissures, Ptosis	OMIM:614816
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick ...	OMIM:213980
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:616728
Autosomal Recessive Spastic Paraplegia Type 77	Ptosis	ORPHA:466722
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse lateral eyebrow	OMIM:223370
Cardiac-Valvular Ehlers-Danlos Syndrome	Thick eyebrow, Ptosis	ORPHA:230851
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential	OMIM:606071
Combined Oxidative Phosphorylation Deficiency 33	Ptosis	OMIM:617713
Synaptic Congenital Myasthenic Syndromes	Bilateral ptosis, Ptosis	ORPHA:98915
Microphthalmia, Syndromic 6	Myopia, Blindness, Finger syndactyly, Retinal dystrophy, Toe syndactyly, Thumb contracture, Colob...	OMIM:607932
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2462
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Ptosis	OMIM:613385
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis	ORPHA:3217
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly, Ptosis	ORPHA:2356
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted palpebral fissu...	OMIM:616734
Orthostatic Hypotension 1	Ptosis	OMIM:223360
Congenital Myopathy 17	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:618975
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:616078
Noonan Syndrome 2	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:605275
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Eversion of latera...	ORPHA:487796
Neurofaciodigitorenal Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2673
Duane Retraction Syndrome	Blepharospasm, Blepharophimosis, Spina bifida occulta, Short palpebral fissure, Ptosis	ORPHA:233
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ptosis	OMIM:610131
Nail-Patella Syndrome	Antecubital pterygium, Spina bifida, Ptosis	OMIM:161200
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Ptosis	OMIM:609037
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Hooded upper eyelid, Ptosis	OMIM:618548
Saethre-Chotzen Syndrome	Blepharospasm, Epicanthus, Ptosis	ORPHA:794
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissure, Narrow pal...	OMIM:615873
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Chiari type I malformation, Chiari malformation, Secondary...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Chiari type I malformation, Chiari malformation, Secondary...	ORPHA:353277
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ptosis	ORPHA:70595
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Ptosis	OMIM:619424
Hereditary Sensory And Autonomic Neuropathy Type 4	Short attention span, Orthostatic hypotension due to autonomic dysfunction, Aplasia of the sweat ...	ORPHA:642
Multiple Synostoses Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:186500
Neutral Lipid Storage Disease With Ichthyosis	Ectropion, Ptosis	ORPHA:98907
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ptosis	OMIM:251900
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Ptosis	ORPHA:45358
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Ptosis	OMIM:309583
Moebius Syndrome	Epicanthus, Blepharitis, Ptosis	ORPHA:570
Pontine Tegmental Cap Dysplasia	Ptosis	OMIM:614688
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ptosis	ORPHA:436271
Cerebral Creatine Deficiency Syndrome 1	Ptosis	OMIM:300352
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:300661
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr...	OMIM:613458
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Hydrocephalus, Long eyelashes, Eversion of lateral third of lower ...	ORPHA:2322
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Ptosis	OMIM:272950
Autosomal Dominant Robinow Syndrome	Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal...	ORPHA:3107
Presynaptic Congenital Myasthenic Syndromes	Ptosis	ORPHA:98914
Congenital Myasthenic Syndrome	Ptosis	ORPHA:590
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Loeys-Dietz Syndrome 5	Long palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615582
Glycine Encephalopathy	Lethargy	ORPHA:407
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:369950
Autosomal Recessive Robinow Syndrome	Epicanthus, Upslanted palpebral fissure, Long eyelashes, Long palpebral fissure, Downslanted palp...	ORPHA:1507
Myasthenia Gravis	Ptosis	ORPHA:589
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Long palpebral fissure, Ptosis, Shallow orbits	ORPHA:453499
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ptosis	OMIM:220110
Angelman Syndrome	Ptosis	ORPHA:72
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash...	ORPHA:2526
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:301066
Lathosterolosis	Epicanthus, Myelomeningocele, Downslanted palpebral fissures, Ptosis	OMIM:607330
Auriculocondylar Syndrome	Ptosis	ORPHA:137888
Cornelia De Lange Syndrome 1	Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Ptosis	OMIM:122470
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Abnormal globus pallidus morphology, Abnormal myelin...	ORPHA:309854
Giant Cell Arteritis	Ptosis	ORPHA:397
Neuroocular Syndrome	Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L...	OMIM:619539
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Downslanted palpebral fissures, Epicanthus, Long eyelashes, Ptosis	OMIM:607721
Hunter-Macdonald Syndrome	Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:611962
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Blepharospasm, Long eyelashes in irregular rows, Blepharophimosis, D...	ORPHA:800
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Ptosis	OMIM:259100
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:613563
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim...	OMIM:618332
Glycogen Storage Disease Xii	Epicanthus, Ptosis	OMIM:611881
Williams-Beuren Syndrome	Hallux valgus, Incoordination, Failure to thrive in infancy, Amblyopia, Retinal arteriolar tortuo...	OMIM:194050
17Q24.2 Microdeletion Syndrome	Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:529962
Miller Fisher Syndrome	Ptosis	ORPHA:98919
Galloway-Mowat Syndrome 1	Epicanthus, Ptosis	OMIM:251300
Neurofibromatosis-Noonan Syndrome	Ptosis, Epicanthus, Downslanted palpebral fissures, Lisch nodules	OMIM:601321
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Upslanted palpebral fissure, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissure...	OMIM:309590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Ptosis	OMIM:157640
Fanconi Anemia	Epicanthus, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hydrocepha...	ORPHA:84
22Q11.2 Deletion Syndrome	Telecanthus, Epicanthus, Spina bifida, Abnormal eyelid morphology, Hydrocephalus, Meningocele, Oc...	ORPHA:567
Non-Functioning Pituitary Adenoma	Ptosis	ORPHA:91349
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Ptosis	ORPHA:500
Monosomy 13Q14	Epicanthus, Holoprosencephaly, Ptosis	ORPHA:1587
Primary Hepatic Neuroendocrine Carcinoma	Ptosis	ORPHA:100085
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upper eyelid edema, Conjunctivitis, Th...	OMIM:616268
Myhre Syndrome	Blepharophimosis, Short palpebral fissure, Ptosis	ORPHA:2588
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Ptosis	ORPHA:228426
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Ptosis	OMIM:615895
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Sparse lateral eyebrow, Ptosis	OMIM:280000
Arthrogryposis Multiplex Congenita 5	Upslanted palpebral fissure, Ptosis	OMIM:618947
Eisenmenger Syndrome	Lethargy, Clubbing	ORPHA:97214
Smith-Lemli-Opitz Syndrome	Epicanthus, Abnormal eyelash morphology, Upslanted palpebral fissure, Holoprosencephaly, Downslan...	ORPHA:818
Good Syndrome	Ptosis	ORPHA:169105
Craniofacial Microsomia 1	Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Agenesis of corpus callosum, Ptosis	OMIM:164210
Noonan Syndrome 3	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:609942
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun...	ORPHA:2363
Ayme-Gripp Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:601088
Pituitary Apoplexy	Ptosis	ORPHA:95613
Malignant Atrophic Papulosis	Ptosis	ORPHA:679
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Ptosis	OMIM:618164
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis	OMIM:609945
Kallmann Syndrome	Ptosis	ORPHA:478
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Hydrocephalus, Prominent eyelashes, Long...	OMIM:147920
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis	OMIM:615510
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ...	ORPHA:444077
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ptosis	OMIM:620303
Fetal Akinesia Deformation Sequence 1	Telecanthus, Hydrocephalus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:208150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:225400
Prolactinoma	Ptosis	ORPHA:2965
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Ptosis	OMIM:615636
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Ptosis	OMIM:619934
Aniridia 1	Bilateral ptosis, Ptosis	OMIM:106210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ptosis	OMIM:607459
Chime Syndrome	Upslanted palpebral fissure, Epicanthus, Ptosis	ORPHA:3474
Mesomelia-Synostoses Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:600383
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Ptosis	OMIM:164310
Erdheim-Chester Disease	Xanthelasma, Ptosis	ORPHA:35687
Pachydermoperiostosis	Ptosis	ORPHA:2796
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Ptosis	ORPHA:2282
Spondylodysplastic Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:536471
Leopard Syndrome 1	Epicanthus, Spina bifida occulta, Ptosis	OMIM:151100
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis	OMIM:617239
Joubert Syndrome 5	Occipital encephalocele, Ptosis	OMIM:610188
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis	ORPHA:1969
Abetalipoproteinemia	Keratoconjunctivitis sicca, Ptosis	ORPHA:14
Specc1L-Related Hypertelorism Syndrome	Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:1519
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Ptosis	OMIM:146255
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ptosis	ORPHA:17
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Spina bifida, Ptosis	OMIM:274000
Codas Syndrome	Ptosis	OMIM:600373
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ptosis	OMIM:603041
Arima Syndrome	Occipital meningocele, Ptosis	OMIM:243910
Charge Syndrome	Epicanthus, Highly arched eyebrow, Aqueductal stenosis, Eyelid coloboma, Holoprosencephaly, Ptosis	ORPHA:138
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:648
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph...	OMIM:619534
Costello Syndrome	Epicanthus, Hydrocephalus, Downslanted palpebral fissures, Ptosis	OMIM:218040
Periventricular Nodular Heterotopia 9	Epicanthus, Microcephaly, Synophrys, Hypoplasia of the corpus callosum, Interictal epileptiform a...	OMIM:618918
Cohen-Gibson Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:617561
Cardiospondylocarpofacial Syndrome	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:157800
Cornelia De Lange Syndrome	Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Blepharitis, Thick eyebrow, Pt...	ORPHA:199
Aicardi-Goutières Syndrome	Eyelid coloboma, Ptosis	ORPHA:51
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Short palpebral fissure, Ptosis	OMIM:617157
Zygomycosis	Chemosis, Ptosis	ORPHA:73263
Kawasaki Disease	Conjunctivitis, Ptosis	ORPHA:2331
Glycogen Storage Disease Due To Acid Maltase Deficiency	Ptosis	ORPHA:365
Microphthalmia, Syndromic 2	Blepharophimosis, Laterally curved eyebrow, Thick eyebrow, Ptosis	OMIM:300166
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis	OMIM:161700
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Ptosis	OMIM:614231
Noonan Syndrome 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:163950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis	OMIM:124000
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction	OMIM:601992
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Neck pterygia, Ptosis	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Neck pterygia, Ptosis	ORPHA:99228
Monosomy X	Epicanthus, Neck pterygia, Ptosis	ORPHA:99226
Turner Syndrome	Epicanthus, Neck pterygia, Ptosis	ORPHA:881
Saethre-Chotzen Syndrome	Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits	OMIM:101400
Okamoto Syndrome	Long palpebral fissure, Ptosis	ORPHA:2729
Autosomal Dominant Cutis Laxa	Ptosis	ORPHA:90348
Proteus Syndrome	Retinal hamartoma, Downslanted palpebral fissures, Ptosis	ORPHA:744
Pallister-Hall Syndrome	Downslanted palpebral fissures, Holoprosencephaly, Ptosis	ORPHA:672
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:309580
Branchiooculofacial Syndrome	Upslanted palpebral fissure, Telecanthus, Nasolacrimal duct obstruction, Ptosis	OMIM:113620
Trichorhinophalangeal Syndrome, Type Ii	Thick eyebrow, Ptosis	OMIM:150230
Viss Syndrome	Long palpebral fissure, Ectropion, Hypereosinophilia, Ptosis	OMIM:619472
Charge Syndrome	Downslanted palpebral fissures, Holoprosencephaly, Ptosis	OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyelashes, Absent eyebrow, Ptosis	OMIM:308205
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Aplasia/Hypoplas...	ORPHA:286
Primrose Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:259050
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Ptosis	OMIM:601803
Singleton-Merten Syndrome 1	Ptosis	OMIM:182250
Microphthalmia, Syndromic 1	Ptosis	OMIM:309800
Deafness, Autosomal Dominant 83		OMIM:619808
Periventricular Nodular Heterotopia		ORPHA:98892

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 Map1b

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 Map1b.

No publications found that use IMPC mice or data for Map1b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Map1b^{tm211989(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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