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Gene: Top2b MGI:98791

Gene Summary

Name:

topoisomerase (DNA) II beta

Synonyms:

Top-2, D230016L12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Top2b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal head shape	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
persistence of hyaloid vascular system	Top2b^em1(IMPC)Mbp	HET	Early adult	1.23×10^-07
abnormal placenta morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal craniofacial morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Top2b 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 Top2b (0 diseases)
Human diseases predicted to be associated with Top2b (1284 diseases)

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

The table below shows human diseases predicted to be associated to Top2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial dislocation, Os odontoideum, Tongue fasci...	OMIM:600561
Hereditary Neuropathy With Liability To Pressure Palsies	Respiratory insufficiency, Scoliosis, Vocal cord paralysis	ORPHA:640
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Scoliosis, Death in adolescence, Respiratory insufficiency due to muscle weaknes...	OMIM:300717
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Lissencephaly, X-Linked, 1	Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse...	OMIM:300067
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Partial agene...	OMIM:604213
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ...	OMIM:611637
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Hypertonia, Respiratory insufficiency, Death in infancy, Rigidity, Respiratory failure	OMIM:613869
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism	OMIM:105500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Scoliosis, Tremor, Limb myoclonus, Frequent falls, Respiratory insufficiency du...	ORPHA:2590
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Abnormal vertebral morphology	OMIM:618709
Spastic Paraplegia 18B, Autosomal Recessive	Babinski sign, Lower limb spasticity, Scoliosis, Kyphosis, Spastic paraplegia, Upper limb spastic...	OMIM:611225
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood	OMIM:253300
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Lissencephaly 3	Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc...	OMIM:611603
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Scoliosis, Paucity of anterior horn motor neurons, Kyphos...	OMIM:611890
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory insufficiency, Tongue fasciculations, Spastic tetraparesis, Respi...	OMIM:616081
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Hypertonia, Death in infancy	OMIM:611722
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy...	ORPHA:95434
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Fasciculations, Respiratory failure, Tongue fasciculations, Amyotrophic lateral sclerosis	OMIM:613435
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Juvenile Primary Lateral Sclerosis	Spastic gait, Spastic dysarthria, Abnormal upper motor neuron morphology, Spasticity, Spastic tet...	ORPHA:247604
Amyotrophic Lateral Sclerosis 28	Chaddock reflex, Respiratory failure, Fasciculations, Babinski sign	OMIM:620452
Glut1 Deficiency Syndrome 1	Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis	OMIM:606777
Band Heterotopia	Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent...	OMIM:600348
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Amyotrophic lateral sclerosis, ...	OMIM:613954
Lissencephaly 1	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu...	ORPHA:71277
Hyperekplexia 4	Kyphoscoliosis, Hypertonia, Myoclonus, Umbilical hernia, Respiratory failure	OMIM:618011
Isolated Dandy-Walker Malformation	Encephalocele, Prominent occiput, Frontal bossing, Cleft palate, Platybasia	ORPHA:217
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Spasticity, Death in infancy, Myoclonus, Respiratory failure	OMIM:225753
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly, Thick lower lip vermilion, Thick upper lip vermilion...	OMIM:309545
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Abnormal vertebral morphology, Respiratory insufficiency, Hydroc...	OMIM:276950
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Frequent falls, Kyphosis, Respiratory insufficiency du...	OMIM:300718
Primary Lateral Sclerosis, Juvenile	Spastic gait, Babinski sign, Spastic dysarthria, Appendicular spasticity, Abnormal upper motor ne...	OMIM:606353
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus, Intrauterine growth retardation, Respiratory failure, Neonatal respiratory d...	OMIM:619057
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure, Simplified gyral pattern	OMIM:618328
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Tongue fasciculations, Diaphragmatic paralysis, Scoliosis, Respiratory...	OMIM:614399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Abnormal lower motor ...	OMIM:611067
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis, Amyotrophic lateral sclerosis	OMIM:300857
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Fasciculations, Spasticity, Respiratory insufficiency due to muscle weakness, Abno...	OMIM:602099
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Kyphosis, Thoracolumbar scoliosis, Platyspondyly, Respiratory failure	OMIM:313420
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Tremor, Ataxia	OMIM:618637
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Scoliosis	OMIM:605285
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per...	ORPHA:1083
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, Narrow mouth, High palate, Short stature, Growth delay	ORPHA:2528
2q33.1 deletion syndrome	Short stature, Cleft palate, High palate	DECIPHER:51
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Gray matter heterotopia	ORPHA:352682
Porphyria, Acute Hepatic	Paralysis, Respiratory paralysis	OMIM:612740
Thomas Syndrome	Cleft upper lip, Cleft palate, Dolichocephaly, Oligohydramnios	ORPHA:3316
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Lower limb spasticity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Kyph...	OMIM:617404
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Spasticity, Rigidity, Neonatal death, Ataxia, Respiratory failure	OMIM:610127
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Gray matter heterotopia, Pachygyria	ORPHA:1084
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Lethal Congenital Contracture Syndrome 8	Neonatal death, Vocal cord paralysis, Death in infancy	OMIM:616287
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Poor gross motor coordination, Scoliosis, Respiratory failure, Decreas...	ORPHA:370968
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Torticollis, Scoliosis, Kyphosis, Frequent falls, Short neck, Respiratory failure	ORPHA:75840
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Respiratory failure, Short neck	ORPHA:1832
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Scoliosis, Kyphosis, Perisylvian polymicrogyria, Respiratory insufficiency ...	OMIM:618291
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Hyperlordosis	OMIM:614198
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Tremor, Limb fasciculations	ORPHA:90117
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Neuromyelitis Optica Spectrum Disorder	Paraplegia, Respiratory failure, Myelitis	ORPHA:71211
Congenital Neuronal Ceroid Lipofuscinosis	Pachygyria, Respiratory failure, Neonatal respiratory distress, Agenesis of corpus callosum	ORPHA:168486
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Lowry-Maclean Syndrome	Intrauterine growth retardation, Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Acalvaria	Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida	ORPHA:945
Spastic Paralysis, Infantile-Onset Ascending	Babinski sign, Tetraplegia, Scoliosis, Spastic paraplegia, Spastic tetraplegia, Abnormal lower mo...	OMIM:607225
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Respiratory insufficiency due to muscle weakness, Kyphosis	OMIM:617087
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete...	ORPHA:101030
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis	ORPHA:2375
Non-Distal Duplication 10Q	Brachycephaly, High palate, Everted lower lip vermilion, Short stature, Frontal bossing	ORPHA:1695
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Lumbar scoliosis, Simplified gyral pattern, Thoracic scoliosis, Periventricular heterotopia, Part...	OMIM:616171
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hypertonia, Myoclonus	OMIM:618240
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Scoliosis, Tremor, Gait ataxia, Intention tremor, Ataxia, Myoclonus, R...	OMIM:616505
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure	ORPHA:266
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Agenesis of corpus callosum,...	ORPHA:300573
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, High palate, Pyloric stenosis, Short stature, Frontal bossing, Craniosynostosis, T...	ORPHA:314575
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Respiratory insufficiency, Spasticity, Tetraparesis, Amyotrophic lateral sclerosis	OMIM:617892
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Tremor, Ataxia, Kyphosis	ORPHA:101075
Gómez-López-Hernández Syndrome	Short stature, Thin vermilion border, Turricephaly, Brachycephaly	ORPHA:1532
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Babinski sign, Hypertonia, Spastic dysarthria, Lower limb spasticity, Retrocollis, ...	OMIM:205100
Pontocerebellar Hypoplasia Type 1	Tongue fasciculations, Spasticity, Ataxia, Degeneration of anterior horn cells, Respiratory failure	ORPHA:2254
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Short stature, Trigonocephaly, Decreased calvarial ossification, Cleft palate, Non...	OMIM:618265
Variegate Porphyria	Paralysis	OMIM:176200
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Scoliosis, Respiratory i...	ORPHA:254875
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Spasticity, Death in infancy	OMIM:616277
Spastic Paraplegia 46, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Scoliosis...	OMIM:614409
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite	OMIM:119540
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic...	OMIM:615191
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt...	OMIM:604317
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Respiratory insufficiency, Scoliosis, L...	OMIM:156530
Kleefstra Syndrome 2	Growth delay, Plagiocephaly, Bifid uvula, Everted lower lip vermilion	OMIM:617768
Immunodeficiency 95	Respiratory failure	OMIM:619773
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Short stature, Cleft palate, Intrauterine growth retardation, Cranio...	ORPHA:2145
Symmetrical Thalamic Calcifications	Respiratory insufficiency, Abnormality of neuronal migration	ORPHA:1314
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abnormality of extrapyrami...	ORPHA:275872
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Tremor, Ataxia, Kyphosis	ORPHA:101078
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Abnormality of extrapyramidal motor function, Spastic tetraparesis, De...	OMIM:605711
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Intrauterine gro...	OMIM:245400
Congenital Myopathy 14	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy	OMIM:618414
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Neonatal death, Death in infancy	OMIM:619334
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Clark-Baraitser Syndrome	Brachycephaly, Short philtrum, Exaggerated cupid's bow, High palate, Downturned corners of mouth,...	OMIM:617752
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Respiratory insufficiency due to muscle weakness, Cerebral palsy	ORPHA:230800
Combined Oxidative Phosphorylation Deficiency 4	Spasticity, Death in infancy, Opisthotonus, Intrauterine growth retardation, Respiratory failure	OMIM:610678
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Kyphosis, Frequent falls, Respiratory failure, Vertebral fusion	OMIM:606612
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate	ORPHA:94066
Masa Syndrome	Lower limb spasticity, Paraplegia, Hyperlordosis, Kyphosis, Spastic paraplegia	OMIM:303350
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Neonatal death, Intrauterine growth retardation, Kyphosis	OMIM:618237
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Babinski sign, Poor fine motor coordination, Scoliosis, Vocal cord paralysis, Frequent falls, Abn...	ORPHA:99947
Severe Neurodegenerative Syndrome With Lipodystrophy	Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Myoclonus, Abnormal pyramidal s...	ORPHA:363400
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Oligodontia, High palate, Short stature, Frontal bossing, Cleft palate, Umbilical ...	OMIM:600325
Parietal Foramina 1	Cleft upper lip, Parietal foramina, Cleft palate, Encephalocele	OMIM:168500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic paralysis, Ventilator dependence with inability to wean, Degeneration of anterior h...	OMIM:604320
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Spinocerebellar Ataxia, Autosomal Recessive 8	Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Scoliosis, Kyphosis, Gait ...	OMIM:610743
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Plagiocephaly, Increased nuchal translucency, Intestinal malrotation, Incomplete...	ORPHA:77300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Apraxia, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Amyotrophic lateral sclerosis, Abn...	OMIM:105550
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
German Syndrome	Brachycephaly, Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Short statu...	ORPHA:2077
Autosomal Recessive Primary Microcephaly	Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:2512
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:352447
Thanatophoric Dysplasia Type 2	Encephalocele, Respiratory insufficiency, Hydrocephalus, Kyphosis, Abnormality of neuronal migrat...	ORPHA:93274
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Scoliosis, Kyphosis, Ataxia, Lumbar hyperlordosis	OMIM:616756
Achondrogenesis, Type Ii	Brachycephaly, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short stature, Fronta...	OMIM:200610
Lissencephaly 6 With Microcephaly	Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent...	OMIM:616212
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Conical tooth, Abnormality of the dentition, Coronal craniosynostos...	ORPHA:228390
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Short philtrum, Narrow mouth, Short stature, Wide mouth, Thick vermilion border, U...	OMIM:615834
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Potocki-Shaffer Syndrome	Brachycephaly, Turricephaly, Short philtrum, Parietal foramina, Downturned corners of mouth	OMIM:601224
Craniosynostosis 2	Brachycephaly, Supernumerary tooth, Turricephaly, Cleft soft palate, Unicoronal synostosis, Bicor...	OMIM:604757
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, Polyhydramnios, High palate, Increased nuchal translucency, Short s...	OMIM:618862
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Sh...	ORPHA:251019
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Paralysis, Respiratory failure, ...	ORPHA:803
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, Spinal rigidity	OMIM:620326
Spinocerebellar Ataxia Type 1	Bradykinesia, Progressive cerebellar ataxia, Fasciculations, Chorea, Dysdiadochokinesis, Postural...	ORPHA:98755
Chopra-Amiel-Gordon Syndrome	Postnatal growth retardation, Brachycephaly, Short philtrum, Short stature, Cleft palate, Pierre-...	OMIM:619504
Fetal Akinesia Deformation Sequence 4	Kyphosis, Neonatal death, Short neck, Prenatal death	OMIM:618393
Potocki-Shaffer Syndrome	Delayed puberty, Brachycephaly, Short philtrum, Parietal foramina, Downturned corners of mouth	ORPHA:52022
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Brachycephaly, High palate, Short stature, Downturned corners of mo...	OMIM:300590
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Abnormality of extrapyramidal motor function, Spasticity, Death in inf...	OMIM:614299
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Neurogenic bladder, Paraparesis, Hemiparesis, Progressive spastic para...	ORPHA:43
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Agenesis of corpus callosum	OMIM:312170
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Respiratory failure, Neonatal respiratory distress, Abnormal cortical gyration	OMIM:616867
Foodborne Botulism	Diaphragmatic paralysis, Cerebral palsy, Respiratory insufficiency due to muscle weakness, Cardio...	ORPHA:228371
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Dental crowding, Frontal bossing, Plagiocephaly	OMIM:619264
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, Spastic tetraplegia	OMIM:615330
Alg1-Cdg	Respiratory failure, Scoliosis, Kyphosis	ORPHA:79327
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Babinski sign, Hypertonia, Death in childhood, Spasticity, Cerebral palsy, Clonus, Opisthotonus, ...	OMIM:619847
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Clonus, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia	OMIM:614898
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Chorea, Scoliosis, Kyphosis, Intention tremor, Ataxia, Abnormal pyramidal sign, Abnormality of th...	ORPHA:48431
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis	ORPHA:140989
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Tremor, Kyphosis, Paraparesis, Ataxia	ORPHA:99014
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Ataxia, Kyphosis	OMIM:620007
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Death in childhood, Torticollis, Tremor, Rigidity, Ataxia, Respiratory failu...	OMIM:617186
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Neurogenic bladder, Tetraparesis, Abnormal upper motor neuron morphology	OMIM:263570
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Clonus, D...	OMIM:602433
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Spinal rigidity, Kyphosis	OMIM:618323
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death, Widening of cervical spinal canal	OMIM:253310
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Brown-Vialetto-Van Laere Syndrome 1	Respiratory failure requiring assisted ventilation, Death in childhood, Respiratory insufficiency...	OMIM:211530
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Long philtrum, Brachycephaly, Tented upper lip vermilion	OMIM:619972
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Oligodontia, Short stature, Frontal bossing, Thin upper lip vermilion	OMIM:618330
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Communicating hydrocephalus	ORPHA:1861
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Neuropathic spinal arthropathy	OMIM:607706
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, High, narrow palate, High palate, Short stature, Downturned corners of mouth, Long...	OMIM:608027
Snakebite Envenomation	Paralysis, Respiratory failure, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:449285
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Thin vermilion border, Flat occiput, Brachycephaly, High palate, In...	OMIM:613792
Chromosome 22Q11.2 Deletion Syndrome, Distal	Short stature, Cleft palate, Smooth philtrum, Intrauterine growth retardation, Thin upper lip ver...	OMIM:611867
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Spasticity, Ataxia, Chorea	ORPHA:70472
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip...	ORPHA:1387
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Spasticity, Tremor, Scoliosis, Kyphosis, Ankle clonus, Abnormal pyramid...	OMIM:617435
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Spasticity, Intention tremor, Gait ataxia, Ataxia	OMIM:215470
Hereditary Motor And Sensory Neuropathy, Type Iic	Scoliosis, Respiratory failure, Vocal cord paresis, Intercostal muscle weakness	OMIM:606071
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Tooth malposition, High palate, Cleft palate	OMIM:618603
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Babinski sign, Lower limb spasticity, Fasciculations, Scoliosis, Hyperlordosis, Kyphosis	OMIM:615290
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Respiratory insufficiency, Spasticity, Neonatal death, Respiratory failure	OMIM:618186
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Brachycephaly, Thin upper lip vermilion, Smooth philtrum	OMIM:620688
Pierpont Syndrome	Brachycephaly, Thin vermilion border, Widely spaced teeth, Long upper lip, Prominent median palat...	OMIM:602342
Heart Defects-Limb Shortening Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Death in infancy	ORPHA:1354
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Dental crowding, Brachycephaly	ORPHA:320385
Pierpont Syndrome	Brachycephaly, Thin vermilion border, Widely spaced teeth, Long upper lip, Everted lower lip verm...	ORPHA:487825
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Downturned corners of mouth, Deep philtrum	OMIM:618859
Edinburgh Malformation Syndrome	Respiratory insufficiency, Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Narrow mouth, Everted lower lip vermilion, Short stature, Downturned corners of mo...	OMIM:618089
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen...	OMIM:207950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Brachycephaly, Wide mouth, Smooth philtrum, Intrauterine growth ret...	OMIM:615419
Crisponi Syndrome	Hypertonia, Respiratory insufficiency, Scoliosis, Kyphosis, Death in infancy	ORPHA:1545
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Tongue fasciculations, Death in infancy, Neonatal death, Myoclonu...	OMIM:614922
Leigh Syndrome	Respiratory insufficiency, Respiratory failure, Spasticity, Ataxia	OMIM:256000
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, High palate, Platystencephaly, Dolichocephaly	OMIM:618774
Sandhoff Disease	Ataxia, Kyphosis	ORPHA:796
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Ataxia, Myoclonus, Platyspondyly, Slur...	OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in childhood, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, ...	OMIM:614643
6Q25 Microdeletion Syndrome	Plagiocephaly, High palate, Short stature, Cleft palate, Long philtrum	ORPHA:251056
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Babinski sign, Death in childhood, Spasticity, Spastic tetraparesis, Ataxia, Respiratory failure	OMIM:615838
Monosomy 18P	Brachycephaly, Short philtrum, Tooth malposition, Lymphedema, Short stature, Carious teeth, Downt...	ORPHA:1598
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Dental crowding, Brachycephaly	OMIM:615031
Lymphatic Malformation 5	Facial edema, Cleft palate, Predominantly lower limb lymphedema	OMIM:153200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Respiratory failure, Agyria, Polymicrogyria	OMIM:616538
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Scoliosis, Small cervical vertebral bodies, Respiratory failure, Progr...	OMIM:135100
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Upper limb hypertonia, Clonus	ORPHA:319199
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Kyphosis	OMIM:600175
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Cornelia De Lange Syndrome 5	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Widely spaced teeth, High pal...	OMIM:300882
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Polyhydramnios	ORPHA:521390
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Fasciculations, Abnormal motor neuron morphology, Hyperlordo...	ORPHA:52430
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Short philtrum, High palate, Dolichocephaly	OMIM:615433
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Fasciculations, Tetraplegia, Progressive spas...	ORPHA:496641
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation	OMIM:609981
Joubert Syndrome 30	Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:617622
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis, Oculomotor apraxia	ORPHA:3454
Coffin-Siris Syndrome 6	Plagiocephaly, High, narrow palate, Short philtrum, Short stature, Frontal bossing, Cleft palate,...	OMIM:617808
Thanatophoric Dysplasia	Respiratory insufficiency, Hydrocephalus, Gray matter heterotopia, Kyphosis, Platyspondyly	ORPHA:2655
Muenke Syndrome	Brachycephaly, Plagiocephaly, Cloverleaf skull, High palate, Short stature, Coronal craniosynosto...	OMIM:602849
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Kyphosis, Neonatal death, Platyspondyly, Respiratory failure, Lumbar hyperlordosis	OMIM:616482
Even-Plus Syndrome	Brachycephaly, High palate, Anal atresia, Severe short stature, Hypodontia, Oligohydramnios	OMIM:616854
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hypertonia, Death in early adulthood, Respiratory insufficiency,...	ORPHA:682
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Abnormal anterior horn cell morphology, Respiratory insufficiency, Tongue fascicu...	ORPHA:1145
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Spasticity, Tremor, Death in adolescence, Kyphosis, Death in infancy, ...	OMIM:615512
Grant Syndrome	Brachycephaly, Abnormal palate morphology, Open bite, Short stature, Frontal bossing	ORPHA:2097
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Brachyturricephaly, Cleft upper lip,...	OMIM:607597
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Open mouth, Smooth philtrum, Intra...	OMIM:616801
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Respiratory insufficiency, Short neck, Scoliosis, Kyphosis	ORPHA:178148
Winchester Syndrome	Kyphosis	OMIM:277950
Cerebrooculonasal Syndrome	Tessier cleft, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Hig...	ORPHA:66625
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Spasticity, Kyphosis	ORPHA:2429
Progressive Non-Fluent Aphasia	Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Parkinsonis...	ORPHA:100070
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Open bite, Narrow mouth, High palate, Spina bifida, Short stature, Downturned corn...	ORPHA:1327
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Broad philtrum, Long philtrum, Unilambdoid synostosis	OMIM:618577
Thanatophoric Dysplasia, Type I	Hydrocephalus, Gray matter heterotopia, Neonatal death, Severe platyspondyly, Platyspondyly, Neon...	OMIM:187600
Aica-Ribosiduria	Brachycephaly, Wide mouth, Thin upper lip vermilion	ORPHA:250977
Charcot-Marie-Tooth Disease Type 4A	Scoliosis, Poor gross motor coordination, Poor fine motor coordination, Frequent falls, Vocal cor...	ORPHA:99948
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Ataxia, Dysmetria	OMIM:618233
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Thick lower lip vermilion, High palate, Frontal bossing, Tented upper lip vermilion	OMIM:615828
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Brachycephaly	OMIM:613456
8Q12 Microduplication Syndrome	Long philtrum, Narrow mouth, Everted lower lip vermilion, Brachycephaly	ORPHA:228399
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Spasticity, Cataplexy, Death in infancy, Ataxia, R...	OMIM:607625
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure, Scoliosis, Thoracic kyphoscoliosis	ORPHA:98913
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Congenital Muscular Dystrophy, Fukuyama Type	Intrauterine growth retardation, Plagiocephaly, Dolichocephaly, Brachycephaly	ORPHA:272
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Dol...	OMIM:618672
Unilateral Ocular Duplication	Polyhydramnios, Encephalocele, Midline facial cleft, Frontal bossing, Dolichocephaly, Cleft palat...	ORPHA:3374
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Intrauterine growth retard...	OMIM:620327
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing	OMIM:617364
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly, Anal atresia	ORPHA:93950
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Gray matter hetero...	ORPHA:370959
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Ataxia, Kyphosis	ORPHA:85317
Pseudo-Torch Syndrome 2	Respiratory insufficiency, Polymicrogyria, Acute respiratory distress syndrome, Gray matter heter...	OMIM:617397
3-Methylglutaconic Aciduria Type 7	Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Progressive extrapyramidal ...	ORPHA:445038
Brachyolmia Type 3	Scoliosis, Kyphosis, Platyspondyly, Short neck, Spinal cord compression	OMIM:113500
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Abnormal lower motor neuron morphology, Abnormal form of the vertebral...	ORPHA:93941
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Kyphosis, Gait...	ORPHA:500180
Craniofrontonasal Dysplasia	Brachycephaly, Orofacial cleft, Plagiocephaly, High palate, Abnormality of the dentition, Frontal...	ORPHA:1520
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly, Simplified gyr...	OMIM:615219
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnormal pyramidal sign, ...	OMIM:272750
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Frontal boss...	ORPHA:2780
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Cleft upper lip, Bifid uvula, Cleft palate	OMIM:300958
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Brachyturricephaly, Pyloric stenosis, Frontal bossing, Short stature, Abnormal sha...	OMIM:218350
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Dental crowding, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin...	OMIM:615761
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Sjögren-Larsson Syndrome	Spasticity, Scoliosis, Kyphosis, Abnormal pyramidal sign, Spastic diplegia	ORPHA:816
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Respiratory insufficiency, Polymicrogyria, Death in infancy, Abnormality of neuronal migration, A...	OMIM:608836
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Frontal bossing, Severe short stature, Smooth philtrum	OMIM:264180
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Everted lower lip vermilion, Frontal bossing, Wide mouth, Open mout...	OMIM:616789
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hyperkinetic movements, Myelitis, Fasciculati...	ORPHA:2912
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Hemivertebrae, Abnormal form of the vertebral bodies	ORPHA:2759
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure, Spasticity, Poor coordination	OMIM:250940
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Ciliary Dyskinesia, Primary, 5	Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci...	OMIM:608647
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis	OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Intrauterin...	OMIM:255200
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, High palate, Short stature, Smooth philtrum, ...	OMIM:601853
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Myoclonus	OMIM:221770
Muscular Dystrophy, Duchenne Type	Respiratory failure, Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlordosis	OMIM:310200
2Q23.1 Microdeletion Syndrome	Brachycephaly, Everted lower lip vermilion, Short stature, Growth delay, Tented upper lip vermili...	ORPHA:228402
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, Umbilical hernia, Long philtrum, Craniosynost...	ORPHA:171839
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Brachycephaly, Thick lower lip vermilion, Gingival overgrowth, Abno...	OMIM:179613
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Intrauterine growth retardation, Respiratory failure, Death in infancy	ORPHA:1194
Atypical Rett Syndrome	Pill-rolling tremor, Apraxia, Spasticity, Tremor, Scoliosis, Kyphosis, Involuntary movements, Gai...	ORPHA:3095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Polyhydramnios, Narrow mouth, Trigonocephaly, Bifid uvula, Cleft palate, Craniosyn...	ORPHA:1790
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Ataxia, Kyphosis	OMIM:300861
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Short philtrum, Tooth agenesis, Downturned corners of mouth, Macrodontia	OMIM:618731
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Cleft palate, Unilater...	OMIM:616897
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Scoliosis, Hyperlordosis	OMIM:620249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Widely spaced teeth, High palate, Short stature, Downturned corners...	ORPHA:369891
Al Kaissi Syndrome	Postnatal growth retardation, Brachycephaly, High, narrow palate, Intrauterine growth retardation...	OMIM:617694
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin vermilion border, Plagiocephaly, Polyhydramnios, Short philtrum, Spina bifida occulta, Promi...	OMIM:617360
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Abnormal upper...	OMIM:601162
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Scoliosis, Thoracic kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:70
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Dental crowding, Narrow mouth, High palate, Frontal bossing, Long philtrum	OMIM:615539
Fetal Trimethadione Syndrome	Intrauterine growth retardation, High palate, Brachycephaly	ORPHA:1913
Hemimegalencephaly	Polymicrogyria, Gray matter heterotopia, Pachygyria	ORPHA:99802
Lessel-Kreienkamp Syndrome	Plagiocephaly, Frontal bossing, Open mouth, Dental malocclusion, Thin upper lip vermilion, Scapho...	OMIM:619149
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Polyhydramnios, Rhizomelic arm shortening	ORPHA:96190
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate	ORPHA:2476
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Hyperintensity of MRI T2 signal of the spinal cord, R...	ORPHA:79139
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates, Intrauterine growth retardation	OMIM:234250
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Ataxia, Frequent falls	OMIM:620166
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure, Short neck	OMIM:618804
X-Linked Intellectual Disability, Wilson Type	Growth delay, Wide mouth, Thick vermilion border, Brachycephaly	ORPHA:85290
Acrofrontofacionasal Dysostosis	Brachycephaly, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Shor...	ORPHA:1784
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Autism Spectrum Disorder Due To Auts2 Deficiency	Hypertonia, Spasticity, Scoliosis, Cerebral palsy, Kyphosis, Umbilical hernia	ORPHA:352490
Osteogenesis Imperfecta, Type Xx	Narrow palate, Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, High pala...	OMIM:618644
Rhizomelic Limb Shortening With Dysmorphic Features	Long philtrum, Plagiocephaly, Rhizomelia, Smooth philtrum	OMIM:618821
Kury-Isidor Syndrome	Brachycephaly, Widely spaced teeth, Triangular mouth, High palate, Growth delay, Frontal bossing,...	OMIM:619762
Frontonasal Dysplasia 2	Brachycephaly, Widely spaced teeth, Encephalocele, Conical tooth, Parietal foramina, Tessier numb...	OMIM:613451
Enlarged Parietal Foramina	Occipital encephalocele, Parietal foramina, Myelomeningocele, Cleft palate, Craniosynostosis, Cle...	ORPHA:60015
Hypomelanosis Of Ito	Scoliosis, Gray matter heterotopia, Kyphosis	OMIM:300337
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Age...	ORPHA:899
Surfactant Metabolism Dysfunction, Pulmonary, 1	Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy	OMIM:265120
Gracile Bone Dysplasia	Hypoplastic spleen, Aniridia, Asplenia	OMIM:602361
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Babinski sign, Scoliosis, Kyphosis, Exaggerated startle response, Spastic paraplegia, Ankle clonus	OMIM:609541
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Scoliosis, Neurogenic bladder, Spasticity, Vocal cord paralysis, Myoclonus	ORPHA:500144
Craniodigital-Intellectual Disability Syndrome	Short stature, Brachycephaly, Spina bifida occulta	ORPHA:1514
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Frequent falls	OMIM:603689
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Cranial asymmetry, Thin upper lip vermilion	ORPHA:137634
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Growth de...	ORPHA:2707
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Tented upper lip vermili...	OMIM:616579
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Fasciculations, Scoliosis, Tremor, Polyminimyoclonus, Vocal cord paresis	OMIM:619574
Pentasomy X	Delayed puberty, Plagiocephaly, Short stature	ORPHA:11
Larsen-Like Syndrome	Brachycephaly, Short stature, Frontal bossing, Cleft palate, Dental malocclusion	OMIM:608545
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Downturned corners of mouth, Thin upper lip vermilion	ORPHA:352530
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Bresek Syndrome	Plagiocephaly, Aganglionic megacolon, Growth delay, Cleft palate, Intrauterine growth retardation	ORPHA:85284
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Joubert Syndrome	Encephalocele, Abnormal form of the vertebral bodies, Hydrocephalus, Polymicrogyria, Scoliosis, A...	ORPHA:475
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Oligohydramnios, Scaphocephaly	ORPHA:1143
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Dental crowding, High palate, Protruding tongue, Short stature, Wide mouth, Thick ...	OMIM:618106
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:2181
Lujan-Fryns Syndrome	Brachycephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition	ORPHA:776
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa...	ORPHA:157
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Unilateral cleft lip, Severe short stature, Brachycephaly	ORPHA:2511
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Kyphosis, Back pain, Respiratory...	ORPHA:98863
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum	OMIM:605282
Bruck Syndrome	Respiratory insufficiency, Scoliosis, Platyspondyly, Kyphosis	ORPHA:2771
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, High palate, Anterior plagiocephaly, Frontal bossing, Downturned corners of mouth,...	ORPHA:163649
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Hemifacial Atrophy, Progressive	Ataxia, Kyphosis	OMIM:141300
Crouzon Syndrome	Narrow palate, Brachycephaly, Turricephaly, Multiple suture craniosynostosis, Frontal bossing	ORPHA:207
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Abnormal palate morphology, Turricephaly, Frontal bossing	ORPHA:93262
Primary Ciliary Dyskinesia	Hydrocephalus, Respiratory failure, Neonatal respiratory distress, Abnormal sperm motility	ORPHA:244
Faciocardiorenal Syndrome	Plagiocephaly, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia	ORPHA:1973
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Scoliosis, Vocal cord paresis, Gait ataxia	OMIM:614895
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Aganglionic megacolon, Anal stenosis, Anal atresia, Growth delay, Anterior plagioc...	OMIM:614749
Congenital Muscular Dystrophy Without Intellectual Disability	Kyphoscoliosis, Gray matter heterotopia, Pachygyria	ORPHA:370980
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure	OMIM:263000
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Polyhydramnios, Short stature, Downturned corners of mouth, Cleft palate, Long phi...	OMIM:301041
Glioblastoma	Paralysis	ORPHA:360
Autosomal Recessive Ataxia, Beauce Type	Babinski sign, Lower limb spasticity, Fasciculations, Spasticity, Scoliosis, Upper motor neuron d...	ORPHA:88644
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Spasticity, Scoliosis, Kyphosis, Ataxia, Progressive spastic paraplegia	ORPHA:464282
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Hydrops fetalis, Ascites, Frontal bossing, Pericardial effusion, Wide mouth, Long ...	OMIM:608776
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Respiratory insuffici...	ORPHA:2311
Holzgreve Syndrome	Turricephaly, Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Ol...	ORPHA:2167
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Ataxia, Kyphosis	OMIM:618124
Postencephalitic Parkinsonism	Bradykinesia, Babinski sign, Resting tremor, Tremor by anatomical site, Cogwheel rigidity, Involu...	ORPHA:97349
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Respiratory insufficiency, Kyphosis, Intrauterine growth retardation, Spastic te...	OMIM:619909
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Anal atresia, Cleft palate, Intrauterine growth retardation	OMIM:220210
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Torticollis, Scoliosis, Tremor, Blepharospasm, Hyperlordosis, Kyphosis	OMIM:128100
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Spina bifida occulta, Short stature, Cleft upper lip, Cleft palate	OMIM:268850
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Ataxia, Titubation, Lower limb spasticity	ORPHA:280210
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Short stature, Frontal bossing, Dolichocephaly, Long philtrum	OMIM:619721
Cdags Syndrome	Rectourethral fistula, Brachycephaly, Lambdoidal craniosynostosis, Rectovaginal fistula, Parietal...	OMIM:603116
Pelizaeus-Merzbacher Disease	Respiratory insufficiency, Spasticity, Scoliosis, Kyphosis, Ataxia, Choreoathetosis	ORPHA:702
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Short stature, Frontal bossing, Wide mouth, Umbilical hernia...	ORPHA:1292
Mitochondrial Dna Depletion Syndrome 11	Respiratory insufficiency, Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Frontofacionasal Dysplasia	Tessier cleft, Brachycephaly, Encephalocele, Non-midline cleft of the upper lip, Short stature, C...	ORPHA:1791
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly	OMIM:617481
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Thin vermilion border, Intestinal malrotation, Short stature, Velopharyngeal insuf...	OMIM:614701
Houge-Janssens Syndrome 3	Plagiocephaly, Short philtrum, High palate, Frontal bossing, Umbilical hernia	OMIM:618354
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Polyhydramnios, Exaggerated cupid's bow, High palate, Short stature, Tented upper ...	OMIM:619833
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Kyphosis, Back pain, Respiratory...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Kyphosis, Back pain, Respiratory...	ORPHA:98853
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Flat occiput, High palate, Intrauterine growth retardation, Short stature, Long ph...	OMIM:617452
Sialidosis Type 2	Tremor, Ataxia, Kyphosis, Umbilical hernia	ORPHA:87876
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Thanatophoric Dysplasia Type 1	Respiratory insufficiency, Hydrocephalus, Gray matter heterotopia, Kyphosis, Platyspondyly	ORPHA:1860
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Widely spaced teeth, Short stature, Trigonocephaly, Cleft palate, Sagittal cranios...	ORPHA:459061
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Respiratory insufficiency, Vocal cord paralysis	OMIM:615490
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Hypertonia, Vertebral segmentation defect, Kyphosis	ORPHA:2617
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, High, narrow palate, Brachycephaly	ORPHA:53271
Oculopharyngodistal Myopathy	Paraplegia, Vocal cord paresis, Respiratory insufficiency due to muscle weakness	ORPHA:98897
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Abnormal palate morphology, Plagiocephaly, Abnormal dental enamel morphology, Ecto...	ORPHA:85199
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Frontal bossing, Downturned corners of mouth, Tented upper lip verm...	OMIM:618430
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Abnormal oral frenulum morphology, Intestinal malrotation, Downturned corners of m...	ORPHA:404440
Infantile Krabbe Disease	Lower limb spasticity, Ankle clonus, Decerebrate rigidity, Spasticity, Opisthotonus, Myoclonus, R...	ORPHA:206436
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Everted lower lip vermilion, Frontal bossin...	OMIM:619720
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Plagiocephaly, Anal atresia, Tooth agenesis, Multiple ...	ORPHA:2063
Arnold-Chiari Malformation Type I	Babinski sign, Syringomyelia, Progressive cerebellar ataxia, Cervical C2/C3 vertebral fusion, Fus...	ORPHA:268882
Ck Syndrome	Scoliosis, Hyperlordosis, Kyphosis	OMIM:300831
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Turricephaly, Short philtrum, High palate, Frontal bossing, Downturned corners of ...	OMIM:613174
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, High palate, Brachycephaly	OMIM:618142
Desanto-Shinawi Syndrome	Brachycephaly, Downturned corners of mouth, Thin upper lip vermilion	OMIM:616708
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Short philtrum, High palate, Short stature, Diastema	OMIM:609757
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Amyotrophic Lateral Sclerosis 21	Abnormal upper motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro...	OMIM:606070
Wieacker-Wolff Syndrome	Apraxia, Oculomotor apraxia, Spasticity, Hyperlordosis, Scoliosis, Kyphosis, Short neck, Neonatal...	OMIM:314580
Cerebrooculonasal Syndrome	Narrow palate, Postnatal growth retardation, Brachycephaly, Solitary median maxillary central inc...	OMIM:605627
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck, Spinal cord compression	ORPHA:2522
Tetrasomy 18P	Scoliosis, Abnormality of neuronal migration	ORPHA:3307
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Brain-Lung-Thyroid Syndrome	Apraxia, Incoordination, Chorea, Intention tremor, Involuntary movements, Ataxia, Myoclonus, Clum...	ORPHA:209905
Antley-Bixler Syndrome	Brachycephaly, Turricephaly, Narrow mouth, Frontal bossing, Cleft palate, Long philtrum, Craniosy...	ORPHA:83
Momo Syndrome	Brachycephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Frontal bossing...	OMIM:157980
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Short philtrum, Short stature, Frontal bossing, Tented upper lip vermilion, Smooth...	ORPHA:371364
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory failure, Hyperlordosis, Cardiorespiratory arrest, Gray matter heterotopia	ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Truncal ataxia, Respiratory insufficiency due to muscle weakness, Ataxia, Res...	OMIM:220110
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Spastic tetraplegia, Respiratory failure, Head titubation	ORPHA:3240
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Tented upper lip vermilion, Smooth philtrum	OMIM:620240
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Plagiocephaly, Polyhydramnios, Short philtrum, Dental crowding, Frontal bossing	OMIM:617296
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos...	ORPHA:2635
Smith-Magenis Syndrome	Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Abnormality of the dentition, Short ...	OMIM:182290
3C Syndrome	Hydrocephalus, Scoliosis, Hemivertebrae, Kyphosis, Death in infancy, Abnormality of neuronal migr...	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor	ORPHA:684
Intellectual Developmental Disorder, Autosomal Dominant 48	Intrauterine growth retardation, Plagiocephaly, Open mouth, Umbilical hernia	OMIM:617751
Brain Small Vessel Disease 2	Polymicrogyria, Subcortical heterotopia	OMIM:614483
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum, Abnormal parietal bone morph...	ORPHA:247262
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, High palate, Intrauterine growth retardation, Short stature, Long ph...	ORPHA:505237
Cooper-Jabs Syndrome	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Anteriorly placed anus	ORPHA:1488
Malan Overgrowth Syndrome	Plagiocephaly, Narrow mouth, High palate, Frontal bossing, Scaphocephaly	ORPHA:420179
Ritscher-Schinzel Syndrome 4	Narrow palate, Brachycephaly, Plagiocephaly, Short philtrum, High palate, Short stature, Wide mou...	OMIM:619435
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Age...	ORPHA:35107
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Short philtrum, High palate, Growth delay, Smooth philtrum, Thin upper lip vermilion	OMIM:619188
Neurocutaneous Melanocytosis	Death in infancy, Abnormality of neuronal migration, Meningocele	ORPHA:2481
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Abnormality of neuronal migration, Scoliosis, Encephalocele	ORPHA:2318
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Inverted Duplicated Chromosome 15 Syndrome	Growth delay, High palate, Short philtrum, Brachycephaly	ORPHA:3306
Distal Deletion 3P	Brachycephaly, Thin vermilion border, High palate, Short stature, Downturned corners of mouth, Cl...	ORPHA:1620
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth	OMIM:616083
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Respiratory insufficiency, Scoliosis, Hyperlordosis, Kyphosis	OMIM:181405
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Baralle-Macken Syndrome	Spasticity, Kyphosis	OMIM:619255
Diastrophic Dysplasia	Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoliosis, Kyphosis, Intrauteri...	ORPHA:628
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Intestinal malrotation, Short stature, Downturned corners of mouth, Cleft palate, ...	ORPHA:457193
Momo Syndrome	Brachycephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short stature, ...	ORPHA:2563
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Dental crowding, High palate, Coronal craniosynostosi...	OMIM:123500
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Narrow mouth, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growt...	OMIM:219150
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Respiratory insufficiency, Tremor, Death in infancy, Ataxia, Intrauterine gro...	OMIM:610505
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Dental crowding, High palate, Narrow mouth, Anal atresia, Abnormal dental morpholo...	OMIM:612582
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure	OMIM:602088
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp...	OMIM:313400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Marshall Syndrome	Brachycephaly, Thick lower lip vermilion, High palate, Abnormality of the dentition, Short statur...	ORPHA:560
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Abnormality of the dentition, Anal atres...	ORPHA:261652
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Lissencephaly, Respiratory insufficiency, Scoliosis, Hyperlordosis, Pachygyria, Respiratory failu...	ORPHA:258
Cerebrofaciothoracic Dysplasia	Brachycephaly, Polyhydramnios, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Broad ph...	ORPHA:1394
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Scoliosis, Hyperlordo...	OMIM:253000
Baller-Gerold Syndrome	Brachycephaly, Narrow mouth, High palate, Anal atresia, Brachyturricephaly, Short stature, Growth...	ORPHA:1225
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Advanced eruption of teeth, Anencephaly, Short philtrum, Delayed eruption of teeth...	OMIM:619148
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa...	ORPHA:228308
Subaortic Stenosis-Short Stature Syndrome	Respiratory insufficiency, Short neck, Scoliosis, Kyphosis	ORPHA:3191
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Hydrocephalus, Kyphosis, Agenesis of corpus callosum, Platyspondyly, Pe...	OMIM:618476
Leigh Syndrome	Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Athetos...	ORPHA:506
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel ...	OMIM:619293
Hallermann-Streiff Syndrome	Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Brachycephaly, Se...	OMIM:234100
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Hypertonia, Exaggerated startle response, Clonus	OMIM:617301
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Avian Influenza	Respiratory failure, Miscarriage, Myelitis	ORPHA:454836
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Respiratory insufficiency, Poor fine motor coordination, Tremor, Vocal cord paral...	ORPHA:99956
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
Smith-Magenis Syndrome	Delayed puberty, Brachycephaly, Short philtrum, Short stature, Cleft upper lip, Frontal bossing, ...	ORPHA:819
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Brachycephaly, Short philtrum, Short upper lip, Short stature, Thick vermilion bor...	ORPHA:364028
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Torticollis, Respiratory insufficiency, Scoliosis, Kyphosis, Respiratory insuffi...	OMIM:254090
4Q21 Microdeletion Syndrome	Scoliosis, Tremor, Kyphosis, Intrauterine growth retardation, Short neck	ORPHA:238750
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Oligodontia, Abnormality of the dentition, Short stature, Coronal craniosynostosis...	ORPHA:2095
Fg Syndrome Type 1	Plagiocephaly, Prominent occiput, Dental crowding, High palate, Anal atresia, Abnormal large inte...	ORPHA:93932
Microphthalmia/Coloboma 12	Optic disc coloboma, Optic nerve aplasia, Chorioretinal coloboma, Remnants of the hyaloid vascula...	OMIM:120200
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, High palate, Tented upper lip vermilion	OMIM:620149
Marinesco-Sjogren Syndrome	Limb ataxia, Spasticity, Scoliosis, Kyphosis, Gait ataxia, Ataxia	OMIM:248800
20Q11.2 Microduplication Syndrome	Tented philtrum, Brachycephaly, Palpebral edema, Gingival overgrowth, Severe intrauterine growth ...	ORPHA:363659
Xq28 (MECP2) duplication	Brachycephaly, Narrow mouth	DECIPHER:45
Trisomy 20P	Brachycephaly, Abnormal palate morphology, Thin vermilion border, Plagiocephaly, Short philtrum, ...	ORPHA:261318
Congenital Multicore Myopathy With External Ophthalmoplegia	Respiratory failure, Scoliosis	ORPHA:98905
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Advanced eruption of teeth, Polyhydramnios, Broad alveolar ridges, Exaggerated cup...	ORPHA:2215
Noonan Syndrome 13	Plagiocephaly, Widely spaced teeth, Lymphedema, High palate, Microdontia, Wide mouth, Long philtr...	OMIM:619087
Developmental And Epileptic Encephalopathy 1	Growth delay, Plagiocephaly	OMIM:308350
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Polyhydramnios, Oligohydramnios, Smooth philtrum	OMIM:263210
19P13.12 Microdeletion Syndrome	Brachycephaly, Thin vermilion border, Hypodontia, Cleft palate, Long philtrum, Craniosynostosis, ...	ORPHA:254346
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Brachycephaly, Short philtrum, Abnormal dental enamel morphology, I...	ORPHA:439822
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Plagiocephaly, Branchial anomaly, Oligodontia, High palate, Furrowed tongue, Pleural effusion, In...	ORPHA:453499
Rift Valley Fever	Decerebrate rigidity, Miscarriage, Paraparesis, Back pain, Hemiparesis, Paralysis	ORPHA:319251
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory failure, Death in childhood, Thoracic scoliosis, Death in infancy	OMIM:620278
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:618484
Sialidosis Type 1	Abnormal form of the vertebral bodies, Scoliosis, Tremor, Kyphosis, Ataxia, Myoclonus, Slurred sp...	ORPHA:812
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure	OMIM:620296
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Scoliosis, Kyphosis, Gait ataxia, Abnormal spinal cord morphology, Ataxia	ORPHA:88628
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hypertonia, Scoliosis, Kyphosis, Death in infancy, Hypoplastic verte...	OMIM:230500
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Abnormal dental enamel morphology, Short stature, Cleft palate, Hypodontia, Macrod...	ORPHA:2916
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Polyhydramnios, High palate, Abnormality of the dentition, Short stature, Wide mou...	ORPHA:363528
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, High, narrow palate, High palate, Everted lower lip ...	OMIM:612513
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Frequent falls, Abnormality of the vertebral column	ORPHA:101097
Cleidocranial Dysplasia	Brachycephaly, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption o...	ORPHA:1452
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing, Wide mouth, Thin upper lip vermilion	OMIM:608688
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
3-Methylglutaconic Aciduria, Type Viii	Hypertonia, Tremor, Clonus, Death in infancy, Respiratory arrest, Neonatal death, Respiratory fai...	OMIM:617248
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Periventricular Nodular Heterotopia 7	Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:617201
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, High, narrow palate, Turricephaly, Short philtrum, High palate, Eve...	OMIM:613776
Trisomy 9P	Brachycephaly, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth, ...	ORPHA:236
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Mercury Poisoning	Respiratory failure, Tremor	ORPHA:330021
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Narrow mouth, High palate, Short stature, Smooth philtrum, Long philtrum, Pursed lips	ORPHA:562528
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth,...	OMIM:257850
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Congenital Myopathy 22A, Classic	Spinal rigidity, Respiratory insufficiency, Scoliosis, Kyphosis, Frequent falls, Neonatal death, ...	OMIM:620351
Inhalational Botulism	Paralysis	ORPHA:254504
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Aganglionic megacolon, Short philtrum, Abnormal rectum morphology, Cleft upper lip...	OMIM:239300
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Acrofrontofacionasal Dysostosis 2	Short stature, High palate, Brachycephaly	OMIM:239710
3P25.3 Microdeletion Syndrome	Brachycephaly, High, narrow palate, Short philtrum, Pyloric stenosis, Downturned corners of mouth...	ORPHA:435638
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Respiratory failure, Frequent falls, Babinski sign	ORPHA:746
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Tick-Borne Encephalitis	Hyperkinetic movements, Myelitis, Tongue fasciculations, Incoordination, Tremor, Speech apraxia, ...	ORPHA:297
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Del...	OMIM:614188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Frequent falls, Vertebral fusion	OMIM:607155
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Respiratory failure, Stillbirth	OMIM:259720
19P13.13 Microdeletion Syndrome	Brachycephaly, Narrow mouth, High palate, Increased nuchal translucency, Dolichocephaly, Smooth p...	ORPHA:357001
Adenylosuccinase Deficiency	Brachycephaly, Growth delay, Wide mouth, Smooth philtrum, Long philtrum, Thin upper lip vermilion	OMIM:103050
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Pac...	ORPHA:2211
Andersen-Tawil Syndrome	Scoliosis, Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Open mouth, Umbilical hernia	ORPHA:500159
Sweeney-Cox Syndrome	Brachycephaly, Polyhydramnios, Short philtrum, Narrow mouth, High palate, Anal atresia, Median cl...	OMIM:617746
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Dysostosis, Stanescu Type	Brachycephaly, Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the ...	ORPHA:1798
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	ORPHA:600
Holoprosencephaly 7	Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymmetry, Unilateral ...	OMIM:610828
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Butterfly vertebrae, Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Neonatal respiratory dist...	OMIM:618870
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypop...	OMIM:183900
ERI1-related disease	Brachycephaly, High palate, Trigonocephaly, Short stature, Velopharyngeal insufficiency, Frontal ...	OMIM:608739
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Short philtrum, High palate, Tented upper lip vermilion, Long philtrum, Thin upper...	OMIM:619244
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Meningocele, Neurogenic bladder, Scoliosis, Tethered cord, Kyphosis...	OMIM:130720
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Flat occiput, High palate, Thick vermilion border, Tented upper lip vermilion, Lon...	OMIM:619383
Galloway-Mowat Syndrome	Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Basilar Impression, Primary	Kyphoscoliosis, Short neck, Syringomyelia, Abnormal cervical myelogram	OMIM:109500
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Short stature, Cl...	OMIM:601701
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Gingival overgrowth, Everted ...	OMIM:212066
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, S...	OMIM:309583
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Thin vermilion border, Plagiocephaly, High palate, Microdontia, Short stature, Fro...	OMIM:610759
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure	OMIM:617895
Raine Syndrome	Brachycephaly, Plagiocephaly, Gingival overgrowth, High palate, Narrow mouth, Microdontia, Protru...	OMIM:259775
Holoprosencephaly 14	Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Gray matter heterotopia, Holoprosen...	OMIM:619895
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Short stature	OMIM:619859
Acromelic Frontonasal Dysplasia	Brachycephaly, Encephalocele, Meningocele, Median cleft palate, Wide mouth, Median cleft upper lip	ORPHA:1827
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, High palate, Brachycephaly	OMIM:619995
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Ataxia, Hypoplas...	OMIM:253010
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Butterfly vertebrae, Tethered cord, Absence of the sacrum, Unilateral vocal cord paresis, Spinal ...	OMIM:617660
Fliedner-Zweier Syndrome	Hypertonia, Meningocele, Scoliosis, Tethered cord, Kyphosis	OMIM:620511
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Branchioskeletogenital Syndrome	Brachycephaly, Thin vermilion border, Blepharochalasis, Short philtrum, Rootless teeth, Premature...	ORPHA:1299
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p...	ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Widely spaced teeth, Narrow mouth, High palate, Growth delay, Tented upper lip ver...	OMIM:300260
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory failure, Neonatal respiratory distress, Neonatal death, Death in infancy	OMIM:610921
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Stevenson-Carey Syndrome	Brachycephaly, Downturned corners of mouth, Pierre-Robin sequence, Narrow mouth	OMIM:611961
Typical Nemaline Myopathy	Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:171436
Arthrogryposis, Distal, Type 5	Scoliosis, Hypertonia, Kyphosis	OMIM:108145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Lambdoidal craniosynostosis, High palate, Abnormality of the dentition, Downturned...	OMIM:615398
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure, Spasticity	OMIM:618329
Flynn-Aird Syndrome	Scoliosis, Ataxia, Kyphosis	ORPHA:2047
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Short stature...	OMIM:619227
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Scoliosis, Vocal cord paresis, Lumbar hyperlordosis	OMIM:601152
Opitz-Kaveggia Syndrome	Narrow palate, Plagiocephaly, Thick lower lip vermilion, Anal stenosis, Dental crowding, Anal atr...	OMIM:305450
Acute Lung Injury	Respiratory failure	ORPHA:178320
Menkes Disease	Intrauterine growth retardation, Brachycephaly, Short stature	OMIM:309400
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Gingival overgrowth, Protruding tongue, Wide mouth, Flat occiput	OMIM:618797
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, High palate	OMIM:218000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Becker Nevus Syndrome	Scoliosis, Kyphosis, Spina bifida occulta	ORPHA:64755
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Kyphosis	OMIM:619797
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:2163
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:137834
Fragile X Syndrome	Scoliosis, Periventricular heterotopia	OMIM:300624
Radio-Tartaglia Syndrome	Scoliosis, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Beck-Fahrner Syndrome	Long philtrum, High palate, Open mouth, Brachycephaly	OMIM:618798
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Rett Syndrome	Truncal ataxia, Spasticity, Scoliosis, Kyphosis, Gait apraxia, Gait ataxia	OMIM:312750
Treacher-Collins Syndrome	Tessier cleft, Brachycephaly, Rectovaginal fistula, Encephalocele, Abnormal dental enamel morphol...	ORPHA:861
Houge-Janssens Syndrome 2	Plagiocephaly, Tented upper lip vermilion, Open mouth	OMIM:616362
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Kyphosis, Umbilical hernia	OMIM:618272
Intellectual Developmental Disorder, Autosomal Dominant 1	Postnatal growth retardation, Brachycephaly, Widely spaced teeth, Everted lower lip vermilion, Mi...	OMIM:156200
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Carpenter Syndrome 1	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, High palate, Persistence of pri...	OMIM:201000
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Alkuraya-Kucinskas Syndrome	Plagiocephaly, High palate, Pleural effusion, Pericardial effusion, Edema	OMIM:617822
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Scoliosis, Spina bifida, Abnormality of neuronal migr...	ORPHA:2671
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Abnormal form of the vertebral bodies, Meningocele, Scoliosis, Hype...	ORPHA:2789
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:536516
Warburg Micro Syndrome 4	Brachycephaly, Severe postnatal growth retardation, Narrow mouth, Short stature, Long philtrum	OMIM:615663
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Apert Syndrome	Narrow palate, Brachycephaly, Lambdoidal craniosynostosis, Esophageal atresia, Delayed eruption o...	OMIM:101200
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Gray matter heterotopia	OMIM:219730
Desbuquois Dysplasia 1	Platyspondyly, Scoliosis, Hyperlordosis, Kyphosis, Intrauterine growth retardation, Short neck, N...	OMIM:251450
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Babinski sign, Tetraplegia, Ataxia, Facial pa...	ORPHA:79138
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis, Death in early adulthood	ORPHA:79107
Distal Deletion 10Q	Postnatal growth retardation, Brachycephaly, Spina bifida occulta, High palate, Anal atresia, Sho...	ORPHA:96148
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Loeys-Dietz Syndrome 5	Brachycephaly, Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Short ...	OMIM:615582
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Cranial asymmetry, Scaphocephaly, Growth delay	OMIM:614886
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Cranial asymmetry, Growth delay, Abnormal dental morphology, Short s...	OMIM:163200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, High palate, Pyloric stenosis, Frontal bossing, Dolichocephaly, Long philtrum, Sub...	ORPHA:457279
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Neonatal inspiratory stridor, Abnormal curvat...	ORPHA:93360
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Polyhydramnios, Narrow mouth, High palate, Everted lower lip vermilion, Growth del...	ORPHA:261349
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Brachycephaly, Triangular mouth, Short stature, Cleft palate, Long ...	OMIM:257300
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis	OMIM:259450
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short philtrum, Short stature, Thick vermilion border, Tented upper lip vermilion	OMIM:618885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis	ORPHA:3085
Abetalipoproteinemia	Kyphoscoliosis, Babinski sign, Upper motor neuron dysfunction, Gait ataxia, Ataxia, Respiratory f...	ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc...	ORPHA:308552
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Smooth philtrum	OMIM:618828
Angelman Syndrome	Brachycephaly, Widely spaced teeth, Protruding tongue, Wide mouth, Flat occiput, Macroglossia	OMIM:105830
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia	OMIM:619775
6Q Terminal Deletion Syndrome	Polymicrogyria, Scoliosis, Gray matter heterotopia, Abnormality of neuronal migration, Colpocepha...	ORPHA:75857
Asbestos Intoxication	Respiratory failure	ORPHA:2302
Srd5A3-Cdg	Abnormal sacrum morphology, Ataxia, Kyphosis	ORPHA:324737
Aicardi Syndrome	Butterfly vertebrae, Polymicrogyria, Scoliosis, Hemivertebrae, Gray matter heterotopia, Spina bif...	OMIM:304050
Charcot-Marie-Tooth Disease Type 4C	Respiratory insufficiency, Tongue fasciculations, Scoliosis, Frequent falls, Head tremor, Gait at...	ORPHA:99949
Duplication Of The Pituitary Gland	Supernumerary tooth, Polyhydramnios, Encephalocele, Brachyturricephaly, Short stature, Volvulus, ...	ORPHA:314621
Periventricular Nodular Heterotopia	Scoliosis, Periventricular heterotopia	ORPHA:98892
49,Xxxxy Syndrome	Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Short sta...	ORPHA:96264
Cockayne Syndrome Type 2	Lower limb spasticity, Limb hypertonia, Scoliosis, Kyphosis, Ataxia, Intrauterine growth retardation	ORPHA:90322
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Brachycephaly, Widely spaced teeth, Delayed eruption of teeth, Yellow-br...	OMIM:619229
White-Sutton Syndrome	Brachycephaly, Thin vermilion border, Short philtrum, High palate, Short stature, Downturned corn...	OMIM:616364
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Plagiocephaly	OMIM:619680
Jaberi-Elahi Syndrome	Appendicular spasticity, Scoliosis, Tremor, Kyphosis, Gait ataxia, Choreoathetosis, Dysmetria	OMIM:617988
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Respiratory insufficiency, Tongue fasciculations, Spasticity, Death in infancy, At...	OMIM:252010
Down Syndrome	Narrow palate, Delayed puberty, Brachycephaly, Aganglionic megacolon, Thick lower lip vermilion, ...	ORPHA:870
Niemann-Pick Disease Type C	Lower limb spasticity, Respiratory insufficiency, Chorea, Tremor, Cataplexy, Upper motor neuron d...	ORPHA:646
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Cloverleaf skull, Ectopic anus, Acr...	ORPHA:87
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Narrow mouth, High palate, Cleft palate, Long philtrum	OMIM:156610
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Brachycephaly, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Frontal ...	OMIM:616078
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Kyphosis, Gait ataxia	OMIM:300354
Radio-Renal Syndrome	Respiratory failure, Short neck, Abnormal form of the vertebral bodies	ORPHA:3015
Scedosporiosis	Respiratory failure	ORPHA:449280
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Occipital encephalocele, Abnormality of neuronal migration, Scoliosis	ORPHA:1454
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Spina bifida occulta	ORPHA:2983
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Parkinso...	OMIM:614298
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Abnormality of the philtrum, Short stature, Abnormal oral mucosa mo...	ORPHA:2673
Pfeiffer Syndrome Type 1	Bicoronal synostosis, High palate, Brachycephaly	ORPHA:93258
Cerebrocostomandibular Syndrome	Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Death in infancy, Kyphosis, Intraut...	ORPHA:1393
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Anter...	OMIM:619718
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Scoliosis, Ataxia, Myoclonus, Paralysis, Tetraparesis	OMIM:203700
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Pseudoachondroplasia	Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Cervical co...	OMIM:177170
Encephalocraniocutaneous Lipomatosis	Hypertonia, Tetraplegia, Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia	ORPHA:2396
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Scoliosis, Abnormality of neuronal migration	ORPHA:2518
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Torticollis, Kyphosis	OMIM:609128
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, High palate, Umbilical hernia	ORPHA:324313
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Paralysis	ORPHA:79102
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Oligodontia, Short stature, Cleft upper lip, Cleft palate, Wide mouth	OMIM:201180
16Q24.3 Microdeletion Syndrome	Scoliosis, Periventricular heterotopia, Colpocephaly, Kyphosis	ORPHA:261250
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Mirage Syndrome	Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:617053
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Short stature, Long philtrum	OMIM:614800
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo...	OMIM:607326
Warburg Micro Syndrome 3	Narrow palate, Downturned corners of mouth, Postnatal growth retardation, Brachycephaly	OMIM:614222
Fountain Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spina bifida	ORPHA:3219
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood, Patent urachus	OMIM:618252
Lig4 Syndrome	Growth delay, Thin vermilion border, Brachycephaly, Biparietal narrowing	ORPHA:99812
Alexander Disease	Respiratory insufficiency, Chorea, Tetraplegia, Tremor, Spasticity, Hyperlordosis, Kyphosis, Clon...	ORPHA:58
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Irregular dentition, Short stature, Cleft palate, Smooth philtrum	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Saethre-Chotzen Syndrome	Narrow palate, Brachycephaly, Plagiocephaly, Open bite, Short stature, Cleft palate, Craniosynost...	ORPHA:794
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Respiratory failure, Intrauterine growth reta...	ORPHA:555874
Andersen Cardiodysrhythmic Periodic Paralysis	Scoliosis, Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly, Mesomelic short stature	ORPHA:2633
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Everted lower lip vermilion, Protruding tongue, Growth delay, Downturned corners o...	ORPHA:96147
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Plagiocephaly, Wide mouth, Long philtrum, Intrauterine growth retar...	ORPHA:251061
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:94080
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly	OMIM:600430
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
48,Xxxy Syndrome	Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious t...	ORPHA:96263
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:300280
Kleefstra Syndrome 1	Brachycephaly, Everted lower lip vermilion, Protruding tongue, Persistence of primary teeth, Nata...	OMIM:610253
9Q21.13 Microdeletion Syndrome	Scoliosis, Vertebral segmentation defect, Gray matter heterotopia	ORPHA:531151
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Dental crowding, High palate, Frontal bossing, Dolichocephaly, Thick vermilion bor...	OMIM:619005
Cree Mental Retardation Syndrome	Brachycephaly, Cleft soft palate	OMIM:606851
Cranioectodermal Dysplasia 2	Plagiocephaly, Widely spaced teeth, Rhizomelia, Hydrops fetalis, Polyhydramnios, Cloverleaf skull...	OMIM:613610
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Respiratory failure, Large placenta, Umbilical hernia	ORPHA:254528
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Contractural Arachnodactyly, Congenital	Brachycephaly, High palate, Frontal bossing, Dolichocephaly, Scaphocephaly	OMIM:121050
Au-Kline Syndrome	Plagiocephaly, Oligodontia, High palate, Lipomyelomeningocele, Downturned corners of mouth, Bifid...	OMIM:616580
Hamamy Syndrome	Brachycephaly, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Wide mout...	OMIM:611174
Alagille Syndrome	Delayed puberty, Brachycephaly, Spina bifida occulta, Short philtrum, Frontal bossing, Intrauteri...	ORPHA:52
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Smooth philtrum	OMIM:618792
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Open bite, High palate, Everted lower lip vermilion, Short stature, Frontal bossin...	ORPHA:1974
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Weismann-Netter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3344
Listeriosis	Miscarriage, Tremor, Back pain, Hemiparesis, Ataxia, Myoclonus, Respiratory failure	ORPHA:533
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Short philtrum, Rectovaginal fistula, Short lingual frenulum, Anteriorly placed an...	OMIM:608980
Atelosteogenesis Type Ii	Plagiocephaly, Polyhydramnios, Rhizomelia, Bilateral cleft palate, Rhizomelic arm shortening, Cle...	ORPHA:56304
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respi...	ORPHA:2020
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Abnormality of the dentition, Anal atresia, Short stature, Cleft palate, Bifid uvu...	OMIM:300968
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Coffin-Lowry Syndrome	Death in early adulthood, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Abnormality...	ORPHA:192
Myhre Syndrome	Platyspondyly, Enlarged vertebral pedicles, Respiratory insufficiency, Short neck, Ataxia, Intrau...	OMIM:139210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Riddle Syndrome	Neonatal asphyxia, Poor hand-eye coordination, Ataxia, Clumsiness, Respiratory failure	ORPHA:420741
Anauxetic Dysplasia 3	Plagiocephaly, Oligodontia, Severe short stature	OMIM:618853
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Brachycephaly	OMIM:109120
Fibrochondrogenesis	Short stature, Plagiocephaly, Cleft palate, Narrow mouth	ORPHA:2021
Acrodysostosis	Brachycephaly, Delayed eruption of teeth, Open bite, Short stature, Frontal bossing, Open mouth	ORPHA:950
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Aganglionic megacolon, Turricephaly, Polyhydramnios, Short philtrum, Frontal bossing	OMIM:613603
Autosomal Recessive Spastic Paraplegia Type 35	Babinski sign, Oculomotor apraxia, Lower limb spasticity, Dysdiadochokinesis, Spastic tetraparesi...	ORPHA:171629
Doors Syndrome	Prominent occiput, Broad alveolar ridges, Long philtrum, Narrow palate, Sirenomelia, Abnormality ...	ORPHA:79500
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyphosis, Intrauterine growth retard...	OMIM:617190
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Scoliosis, Spasticity, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ataxia	OMIM:618443
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Babinski sign, Hypertonia, Respiratory insufficiency, Abnormality of extrapyramidal motor functio...	OMIM:617527
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth...	OMIM:301072
Weill-Marchesani Syndrome 1	Narrow palate, Brachycephaly, Tooth malposition, Broad skull, Proportionate short stature, Short ...	OMIM:277600
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Aymé-Gripp Syndrome	Postnatal growth retardation, Brachycephaly, Plagiocephaly, Oligodontia, Narrow mouth, Short stat...	ORPHA:1272
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Intestinal malrotation, Growth delay, Wide mouth, Duodena...	OMIM:617798
Arterial Tortuosity Syndrome	Respiratory failure, Scoliosis, Cardiorespiratory arrest	ORPHA:3342
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly, Dentinogenesis imperfecta	OMIM:610968
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly	OMIM:617730
Ruvalcaba Syndrome	Intrauterine growth retardation, Scoliosis, Abnormal vertebral epiphysis morphology, Kyphosis	ORPHA:3121
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Kyphoscoliosis, Polymicrogyria, Gray matter heterotopia, Holoprosence...	OMIM:618820
Craniofrontonasal Syndrome	Brachycephaly, Abnormality of the dentition, Short stature, Cleft upper lip, Frontal bossing, Cle...	OMIM:304110
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Abnormality of extrapyramidal motor function, Decerebrate ...	ORPHA:354
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Disproportionate short-limb short stature, Delayed eruption of teeth, Calvarial hy...	OMIM:101800
De Barsy Syndrome	Postnatal growth retardation, Brachycephaly, Delayed eruption of teeth, Narrow mouth, High palate...	ORPHA:2962
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Respiratory failure, Lateral ventricle dilatation, Death in infancy	OMIM:300868
Fucosidosis	Anterior beaking of lumbar vertebrae, Spasticity, Kyphosis, Abnormal pyramidal sign, Spastic tetr...	ORPHA:349
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Respiratory insufficiency, Tetraplegia, Myoclonus, Respiratory failure	OMIM:618278
Pelger-Huet Anomaly	Lower limb hypertonia, Kyphosis, Umbilical hernia	OMIM:169400
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Steatorrhea, Widely spaced teeth, Polyhydramnios, Dental crowding, ...	OMIM:618268
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Abnormal cortical gyration, Platyspondyly, Death in childhood, Respiratory insufficie...	OMIM:210710
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Brachycephaly, Frontal bossing, Hypodontia, Lip pit	ORPHA:1236
Martsolf Syndrome 1	Brachycephaly, Short philtrum, Tooth malposition, High palate, Short stature, Long philtrum	OMIM:212720
Bohring-Opitz Syndrome	Neonatal respiratory distress, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Plagiocephaly, High palate, Short stature, Smooth philtrum, Long ph...	OMIM:300749
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Hypoplasia of the primary teeth, Widely spaced teeth, Polyhydramnio...	OMIM:618371
Dihydropyrimidinase Deficiency	Growth delay, Plagiocephaly, Anal atresia	OMIM:222748
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Kleefstra Syndrome	Brachycephaly, Advanced eruption of teeth, Delayed eruption of teeth, Exaggerated cupid's bow, Ev...	ORPHA:261494
Cornelia De Lange Syndrome 1	Brachycephaly, High, narrow palate, Widely spaced teeth, Delayed eruption of teeth, High palate, ...	OMIM:122470
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Long philtrum	OMIM:207410
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, Everted l...	ORPHA:3063
Peroxisome Biogenesis Disorder 13A (Zellweger)	Polymicrogyria, Neonatal death, Gray matter heterotopia	OMIM:614887
Holoprosencephaly	Encephalocele, Abnormal form of the vertebral bodies, Respiratory insufficiency, Hydrocephalus, S...	ORPHA:2162
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Baller-Gerold Syndrome	Turricephaly, Severe intrauterine growth retardation, Brachyturricephaly, Bifid uvula, Severe sho...	OMIM:218600
Van Maldergem Syndrome 1	Scoliosis, Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band hetero...	OMIM:601390
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Platyspo...	OMIM:108300
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Oculomotor apraxia, Ataxia, Respiratory failure	OMIM:615636
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, High, narrow palate, Dolichocephaly, Umbilical hernia, Long philtrum	ORPHA:1101
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, High palate, Glossoptosis, Growth delay, Pierre-Robin sequence, Cleft palate, Micr...	OMIM:254940
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Narrow mouth, Growth delay, Cleft palate, Long philtrum, Thin upper lip vermilion	OMIM:601353
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Thoracolumbar kyphosis, Oculomotor apraxia, Scoliosis, Spastic paraplegi...	ORPHA:2072
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain	ORPHA:98855
3M Syndrome	Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Intrauterine growth retardation, ...	ORPHA:2616
Mucolipidosis Iii Gamma	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:252605
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting	OMIM:615709
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Polyhydramnios, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin ...	OMIM:618548
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Plaa-Associated Neurodevelopmental Disorder	Limb hypertonia, Respiratory insufficiency, Abnormality of extrapyramidal motor function, Exagger...	ORPHA:521426
White-Sutton Syndrome	Brachycephaly, Short philtrum, High palate, Narrow mouth, Short stature, Downturned corners of mo...	ORPHA:468678
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Plagiocephaly, Widely spaced teeth, Thick lower lip vermilion, Short philtrum, Del...	OMIM:280000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Hypertonia, Sacral dimple, Cervical instability, Increased interv...	ORPHA:508533
Achondroplasia	Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h...	ORPHA:15
Schaaf-Yang Syndrome	Scoliosis, Kyphosis	OMIM:615547
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weak...	ORPHA:365
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci...	ORPHA:699
Gapo Syndrome	Plagiocephaly, High, narrow palate, Thick lower lip vermilion, Eruption failure, Growth delay, Fr...	OMIM:230740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Kyphoscoliosis, Polymicrogyria, Hemivertebrae, Simplified gyral patte...	ORPHA:500150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Rhizomelia, Narrow mouth, Microdontia, Short stature, Frontal bossing, Cleft palat...	OMIM:245600
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Mucopolysaccharidosis Type 4	Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platyspondyly, Short neck	ORPHA:582
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microdontia of primary teeth, Postnatal growth retardation, Brachycephaly, Polyhydramnios, Gingiv...	OMIM:213980
Cole-Carpenter Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc...	ORPHA:2062
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hypertonia, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Spast...	ORPHA:2636
Emanuel Syndrome	Sacral dimple, Torticollis, Scoliosis, Kyphosis, Intrauterine growth retardation	OMIM:609029
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Frontal bossing, Widely spaced teeth, Plagiocephaly	OMIM:617193
Frontofacionasal Dysplasia	Brachycephaly, Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Cra...	OMIM:229400
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, Short philtrum, High palate, Wide mouth	OMIM:620224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Type II lissencephaly, Gray matter heterotop...	OMIM:615287
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
15Q24 Microdeletion Syndrome	Scoliosis, Kyphosis, Myelomeningocele	ORPHA:94065
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, High palate, Narrow mouth, Intestinal malrotation, Carious teeth, Short stature, S...	OMIM:244450
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Hydrops fetalis, Intestinal malrotation, Cleft palate, Microglossia, Hamartoma of ...	OMIM:263520
Rett Syndrome, Congenital Variant	Apraxia, Chorea, Spasticity, Athetosis, Scoliosis, Kyphosis	OMIM:613454
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Growth delay, Frontal bossing	ORPHA:2612
Roberts Syndrome	Postnatal growth retardation, Brachycephaly, Polyhydramnios, High palate, Severe intrauterine gro...	ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Weill-Marchesani Syndrome 2	Narrow palate, Brachycephaly, Tooth malposition, High palate, Broad skull, Proportionate short st...	OMIM:608328
Trisomy 13	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3378
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Respiratory failure	OMIM:610913
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Lissencephaly, Scoliosis, Hemivertebrae, Miscarriage, Respiratory failure, Spinal...	ORPHA:96334
Alg11-Cdg	Scoliosis, Gray matter heterotopia	ORPHA:280071
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Tremor, Kyphosis	OMIM:617061
Harrod Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2115
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Tooth malposition, High palate, Abnormal...	ORPHA:2785
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Prominent protruding coccyx, Prominent coccyx, Spasticity, Tremor, Scoliosis, Kyph...	OMIM:300966
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Plagiocephaly, Flat occiput, High palate	ORPHA:300570
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis, Poor coordination	ORPHA:420794
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Narrow mouth, High palate, Proportionate short stature, Growth delay, Long philtru...	OMIM:613457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Lobar holoprosencephaly, Simplified gyral pattern, Agenesis of corpus callosum, P...	ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Vertebral segmentation defect, Holoprosencephaly	ORPHA:3186
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Respiratory failure, Agenesis of corpus callosum	ORPHA:2556
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Widely spaced teeth, Short stature, Frontal bossing, Downturned corners of mouth, ...	OMIM:616728
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis, Hypoplasia of the odont...	OMIM:253220
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Stillbirth, Spondylolysis, Respiratory insufficiency, Spina bifida, Short neck, U...	OMIM:304120
Congenital Myopathy 13	Brachycephaly, High palate, Short stature, Downturned corners of mouth, Cleft palate	OMIM:255995
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Abnormal spinal cor...	ORPHA:1724
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Scoliosis, Kyphosis	OMIM:259420
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyl...	OMIM:619950
Hallermann-Streiff Syndrome	Brachycephaly, Supernumerary tooth, High, narrow palate, Narrow mouth, Glossoptosis, Abnormality ...	ORPHA:2108
Distal Renal Tubular Acidosis	Paralysis, Respiratory insufficiency due to muscle weakness	ORPHA:18
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Plagiocephaly, High palate, Microdontia, Carious teeth, Frontal bos...	ORPHA:536467
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Intrauterine growth retardation, Short neck	ORPHA:958
African Trypanosomiasis	Myelitis, Fasciculations, Miscarriage, Tremor, Involuntary movements, Hemiparesis, Myelopathy, Pa...	ORPHA:3385
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Intrauterine growth retardation, Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:1005
Micro Syndrome	Intrauterine growth retardation, Spasticity, Scoliosis, Kyphosis	ORPHA:2510
Saethre-Chotzen Syndrome	Narrow palate, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Shor...	OMIM:101400
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Severe short stature, Tooth malposition	OMIM:156400
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Upper motor neuron dysfunction, Kypho...	ORPHA:763
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Brachycephaly, High palate, Proportionate short stature, Wide mouth, Dental malocc...	OMIM:227330
Ring Chromosome 7 Syndrome	Brachycephaly, Thin vermilion border, Plagiocephaly, Short philtrum, Narrow mouth, Severe intraut...	ORPHA:1449
7Q11.23 Microduplication Syndrome	Brachycephaly, Thin vermilion border, Short philtrum, Short lingual frenulum, High palate, Short ...	ORPHA:96121
Alg9-Cdg	Brachycephaly, Hydrops fetalis, Rhizomelia, Frontal bossing, Pericardial effusion, Bifid uvula, W...	ORPHA:79328
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Frontal bossing, Polyhydramnios, Umbilical hernia	OMIM:618188
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Vocal cord paralysis	ORPHA:221098
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Respiratory failure, Scoliosis, Intrauterine growth retardation	OMIM:613658
Ayme-Gripp Syndrome	Brachycephaly, Narrow mouth, Abnormality of the dentition, Short stature, Craniofacial asymmetry,...	OMIM:601088
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Brachycephaly, Short stature, Cleft palate, Cleft lip	OMIM:618223
Marden-Walker Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	OMIM:248700
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Frontal bossing, Cleft palate, Intrauterine growth retardation, F...	OMIM:619376
Distal Triplication 15Q	Intrauterine growth retardation, Syringomyelia, Scoliosis, Kyphosis	ORPHA:314588
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Fontaine Progeroid Syndrome	Brachycephaly, High, narrow palate, Turricephaly, Oligodontia, Narrow mouth, Everted lower lip ve...	OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Anal atresia, Decreased calvarial ossification, Frontal bossing, Cleft palate, Nat...	OMIM:617925
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Chime Syndrome	Brachycephaly, Supernumerary tooth, Short philtrum, Abnormality of the dentition, Microdontia, Ab...	ORPHA:3474
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Mild postnatal growth retardation, Brachycephaly, Thin upper lip vermilion	ORPHA:456312
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Plagiocephaly, Everted lower lip vermilion	OMIM:615471
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Thin vermilion border, Brachycephaly, Plagiocephaly, Narrow mouth, Esophagitis	ORPHA:495818
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
Hoxha-Aliu Syndrome	Brachycephaly, High palate	OMIM:620662
Joubert Syndrome 1	Plagiocephaly, Protruding tongue, Occipital myelomeningocele, Triangular-shaped open mouth, Macro...	OMIM:213300
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Short lingual frenulum, High palate, Wide mouth, Craniosynostosis	ORPHA:1521
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Respiratory insufficiency, Scoliosis, Kyphosis, Short neck	ORPHA:140
Geleophysic Dysplasia 3	Respiratory failure	OMIM:617809
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
Adnp Syndrome	Brachycephaly, Plagiocephaly, Advanced eruption of teeth, Thick lower lip vermilion, Short statur...	ORPHA:404448
Pagod Syndrome	Encephalocele, Meningocele, Death in infancy, Spina bifida, Abnormality of neuronal migration	ORPHA:991
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Congenital Disorder Of Glycosylation, Type Ia	Death in childhood, Tremor, Kyphosis, Death in infancy, Intention tremor, Ataxia, Dysmetria	OMIM:212065
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Spina bifida, Frontal bossing, Bifid uvula,...	OMIM:619480
Elsahy-Waters Syndrome	Brachycephaly, Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Anal stenosis...	OMIM:211380
Frank-Ter Haar Syndrome	Brachycephaly, Broad alveolar ridges, Gingival overgrowth, High palate, Growth delay, Wide mouth,...	OMIM:249420
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Brachycephaly, Aganglionic megacolon, Anal stenosis, Esophagea...	OMIM:250250
Peters Plus Syndrome	Postnatal growth retardation, Brachycephaly, Widely spaced teeth, Rhizomelia, Polyhydramnios, Spi...	ORPHA:709
Acromelic Frontonasal Dysostosis	Brachycephaly, Encephalocele, Midline facial cleft, Parietal foramina, Cleft upper lip, Cleft pal...	OMIM:603671
Orofaciodigital Syndrome I	Abnormal cortical gyration, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of...	OMIM:311200
Mucopolysaccharidosis, Type Ii	Short neck, Cervical cord compression, Kyphosis, Umbilical hernia	OMIM:309900
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p...	OMIM:223800
Distal Deletion 12Q	Brachycephaly, Supernumerary tooth, High, narrow palate, Esophageal atresia, Pyloric stenosis, Sh...	ORPHA:96149
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617821
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Bloom Syndrome	Intrauterine growth retardation, Respiratory failure	ORPHA:125
Alg12-Cdg	Posterior plagiocephaly, Polyhydramnios, Short philtrum, Intestinal malrotation, Intrauterine gro...	ORPHA:79324
Coffin-Siris Syndrome 1	Duodenal ulcer, Microdontia, Intestinal malrotation, Wide mouth, Umbilical hernia, Intrauterine g...	OMIM:135900
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Plagiocephaly, Brachycephaly	ORPHA:500055
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2075
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Neonatal respiratory distress, Death in childhood, Gray matter heterotopia	OMIM:214100
Nijmegen Breakage Syndrome	Respiratory failure, Abnormality of neuronal migration	ORPHA:647
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Monosomy 9P	Brachycephaly, Narrow mouth, High palate, Abnormality of the dentition, Trigonocephaly, Cleft pal...	ORPHA:261112
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, High, narrow palate, Premature loss of teeth, Exaggerated cupid's bow, Downturned ...	ORPHA:369837
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Ataxia, Kyphosis	ORPHA:2479
Schwartz-Jampel Syndrome	Hypertonia, Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Blepharospasm, ...	ORPHA:800
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Microdontia	OMIM:261990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Thin vermilion border, Rectal prolapse, Polyhydramnios, Dental crowding, High pala...	OMIM:617157
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Neonatal death, Gray matter heterotopia, Pachygyria	OMIM:620024
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Plagiocephaly, Short philtrum, Exaggerated cupid's bow, Narrow mouth, High palate,...	OMIM:619512
Atelis Syndrome 2	Thrombocytopenia, Anemia, Remnants of the hyaloid vascular system	OMIM:620185
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistula, Esophagi...	ORPHA:2538
X-Linked Intellectual Disability, Cabezas Type	Short neck, Scoliosis, Tremor, Kyphosis	ORPHA:85293
Kbg Syndrome	Brachycephaly, Oligodontia, Short stature, Tented upper lip vermilion, Long philtrum, Macrodontia...	OMIM:148050
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Thick lower lip vermilion, Short philtrum, Oligodontia, High palate, Narrow mouth,...	OMIM:309590
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Umbilical hernia	OMIM:607015
Van Maldergem Syndrome 2	Subcortical band heterotopia, Scoliosis, Periventricular nodular heterotopia, Gray matter heterot...	OMIM:615546
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Spasticity, Kyphosis	OMIM:616449
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Plagiocephaly, Widely spaced teeth, Posterior plagiocephaly, Polyhydramnios,...	OMIM:619841
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Agenesis of corpus ...	OMIM:236680
Costello Syndrome	Respiratory insufficiency, Respiratory failure, Hydrocephalus	OMIM:218040
Cowden Syndrome 5	Scoliosis, Kyphosis, Intention tremor	OMIM:615108
Koolen-De Vries Syndrome	Scoliosis, Gray matter heterotopia, Kyphosis, Vertebral fusion	OMIM:610443
Van Esch-O'Driscoll Syndrome	Sacral dimple, Spina bifida occulta, Spasticity, Scoliosis, Intrauterine growth retardation, Unil...	OMIM:301030
Tuberous Sclerosis Complex	Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Marshall-Smith Syndrome	Kyphoscoliosis, Hypertonia, Death in childhood, Atlantoaxial dislocation, Scoliosis, Thoracic kyp...	OMIM:602535
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short philtrum	ORPHA:521445
Arboleda-Tham Syndrome	Plagiocephaly, Short philtrum, Peg-shaped maxillary lateral incisors, Narrow mouth, Intestinal ma...	OMIM:616268
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Weaver Syndrome	Hypertonia, Spasticity, Poor fine motor coordination, Scoliosis, Kyphosis, Umbilical hernia, Slur...	OMIM:277590
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Delayed eruption of teeth, Gingival overgrowth, Short stature, Frontal bossing	OMIM:259600
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly	OMIM:614225
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Spasticity, Scoliosis, Hemivertebrae, Kyphosis, Umbilical hernia	OMIM:301040
Aicardi Syndrome	Delayed puberty, Plagiocephaly, Intestinal polyposis, Short philtrum, Cleft upper lip, Cleft pala...	ORPHA:50
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Growth delay, Short stature, Intrauterine growth retardation	ORPHA:500
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Short philtrum, Short stature, Downturned corners of mouth, Cleft palate, Wide mouth	ORPHA:85276
Helsmoortel-Van Der Aa Syndrome	Thin vermilion border, Advanced eruption of teeth, Widely spaced teeth, Thick lower lip vermilion...	OMIM:615873
Gorlin Syndrome	Brachycephaly, Orofacial cleft, Odontogenic keratocysts of the jaw, Carious teeth, Frontal bossing	ORPHA:377
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Cowden Syndrome 6	Scoliosis, Kyphosis, Intention tremor	OMIM:615109
Mandibuloacral Dysplasia Progeroid Syndrome	Postnatal growth retardation, Brachycephaly, Short philtrum, Hypodontia, Intra-oral hyperpigmenta...	OMIM:619127
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Brachycephaly, Short stature, Thin up...	OMIM:616263
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Widely spaced teeth, Umbilical hernia, Craniosynostosis, Thi...	ORPHA:309282
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Dental crowding, Open bite, High palate, Short stature	OMIM:620083
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:276621
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Tremor, Kyphosis, Gait ataxia	ORPHA:476126
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Vertebral fusion	ORPHA:96169
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth	OMIM:620099
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Mucopolysaccharidosis Type 6	Short neck, Ovoid vertebral bodies, Kyphosis	ORPHA:583
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Fused cervical vertebrae, Scoliosis, Kyphosis, Thoracolumb...	OMIM:265000
Spondyloperipheral Dysplasia	Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck	OMIM:271700
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Poor fine motor co...	ORPHA:273
Ear-Patella-Short Stature Syndrome	Intrauterine growth retardation, Respiratory failure	ORPHA:2554
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis, Ataxia	OMIM:617799
Cartilage-Hair Hypoplasia	Brachycephaly, Abnormal palate morphology, Aganglionic megacolon, Rhizomelia, Disproportionate sh...	ORPHA:175
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Intention tremor, Head titubation, Ataxia, Dysmetria	OMIM:619708
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Everted lower ...	ORPHA:1519
Codas Syndrome	Scoliosis, Lumbar scoliosis, Vocal cord paresis, Coronal cleft vertebrae, Hypoplasia of the odont...	OMIM:600373
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Dural ectasia, Kyphosis	OMIM:616914
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Hemorrhagic Fever-Renal Syndrome	Respiratory failure, Back pain	ORPHA:340
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, High palate, Narrow mouth, Intestinal malrotation, Cleft palate, Abnormal duodenum...	OMIM:601776
Hurler Syndrome	Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasia of the odontoid process, Umbilical h...	OMIM:607014
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Kyphosis	OMIM:619951
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Carpenter Syndrome 2	Narrow palate, Brachycephaly, High, narrow palate, High palate, Trigonocephaly, Carious teeth, Fr...	OMIM:614976
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Plagiocephaly, High, narrow palate, Widely spaced teeth, Short philtrum, Dental ...	ORPHA:466791
Lig4 Syndrome	Brachycephaly	OMIM:606593
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria	OMIM:247200
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Aplasia of the epiglottis, Polymicrogyria, Holoprosencephaly, Simplified...	OMIM:615948
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:617602
Shprintzen Omphalocele Syndrome	Scoliosis, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis	OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, High palate, Frontal bossing, Bifid uvula, Dolichocephaly...	OMIM:620330
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Edema of the dorsum of hands, Meckel diverticulum, Spina bifida, Short stature, Cl...	OMIM:274000
Mucopolysaccharidosis Type 3	Hypertonia, Abnormal form of the vertebral bodies, Spasticity, Scoliosis, Vocal cord paresis, Ata...	ORPHA:581
Cornelia De Lange Syndrome	Delayed puberty, Thin vermilion border, Brachycephaly, Widely spaced teeth, Delayed eruption of t...	ORPHA:199
Renpenning Syndrome 1	Brachycephaly, Short philtrum, High palate, Narrow mouth, Anal atresia, Short stature, Cleft pala...	OMIM:309500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Polyhydramnios, Esophageal atresia, Meckel diverticulum, Congenital shortened smal...	OMIM:265380
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Respiratory failure	ORPHA:60025
Hunter-Macdonald Syndrome	Brachycephaly, Short philtrum, Short stature, Umbilical hernia, Thin upper lip vermilion	OMIM:611962
Cowden Syndrome 1	Scoliosis, Kyphosis, Intention tremor	OMIM:158350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol...	OMIM:618019
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Spondyloenchondrodysplasia	Platyspondyly, Chorea, Spasticity, Kyphosis	ORPHA:1855
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Mucolipidosis Iii Alpha/Beta	Scoliosis, Spondylolisthesis, Kyphosis	OMIM:252600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Scoliosis, Vertebral segmentation defect, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Scoliosis, Vertebral segmentation defect, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Scoliosis, Abnormality of neuronal migration, Kyphosis	ORPHA:464311
Gitelman Syndrome	Paralysis	ORPHA:358
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Vertebral compression fracture, Kyphosis	OMIM:219090
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form ...	ORPHA:280
Duane Retraction Syndrome	Plagiocephaly, Cleft palate, Everted lower lip vermilion, Spina bifida occulta	ORPHA:233
Microphthalmia, Lenz Type	Scoliosis, Hyperlordosis, Kyphosis	ORPHA:568
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Plagiocephaly, High, narrow palate, Palpebral edema, Short uvula, Short philtrum...	OMIM:619475
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Pachygyria	OMIM:251300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly	ORPHA:371428
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Pineoblastoma	Paralysis	ORPHA:251909
Degcags Syndrome	Plagiocephaly, Polyhydramnios, High palate, Protruding tongue, Pyloric stenosis, Wide mouth, Thic...	OMIM:619488
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Kyphosis	OMIM:618493
Cleidocranial Dysplasia 1	Syringomyelia, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Neonatal respiratory distress	OMIM:119600
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:29072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Brachycephaly, High, narrow palate, Turricephaly, Narrow mouth, Frontal bossing,...	ORPHA:95699
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Thin vermilion border, Thick lower lip vermilion, Widely spaced teeth, Turricephal...	OMIM:612474
Spondyloarthropathy, Susceptibility To, 1	Back pain, Sacroiliac arthritis, Kyphosis	OMIM:106300
Wiedemann-Rautenstrauch Syndrome	Short philtrum, Premature loss of teeth, Narrow mouth, Abnormality of the dentition, Intrauterine...	ORPHA:3455
Schinzel-Giedion Syndrome	Kyphoscoliosis, Hypertonia, Neural tube defect, Spasticity, Scoliosis, Vocal cord paralysis, Umbi...	ORPHA:798
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Prader-Willi Syndrome	Scoliosis, Poor gross motor coordination, Poor fine motor coordination, Kyphosis, Intrauterine gr...	OMIM:176270
Osteogenesis Imperfecta	Brachycephaly, Intestinal obstruction, Rhizomelia, Delayed eruption of teeth, Abnormality of dent...	ORPHA:666
Cohen Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:193
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Spasticity, Kyphosis	ORPHA:464738
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, High palate, Glossoptosis, Short stature, Downturned corners of mouth, Long philtr...	ORPHA:444077
Noonan Syndrome 14	Short neck, Kyphosis	OMIM:619745
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sacral dimple, Kyphosis, Umbilical hernia, Thoracic scoliosis	ORPHA:536532
Pierson Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorr...	OMIM:609049
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
2Q31.1 Microdeletion Syndrome	Short neck, Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:251014
Viss Syndrome	Brachycephaly, High, narrow palate, Polyhydramnios, Cleft soft palate, Chronic gastritis, High pa...	OMIM:619472
Ulbright-Hodes Syndrome	Respiratory failure, Ovoid thoracolumbar vertebrae, Severe intrauterine growth retardation, Short...	ORPHA:3404
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Brachycephaly, Cleft soft palate, Delayed eruption of teeth, Dental crowding, Esophageal varix, N...	OMIM:619503
Alkaptonuria	Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion	OMIM:203500
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
Intellectual Developmental Disorder, Autosomal Dominant 73	Apraxia, Scoliosis, Spasticity, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Lumbar hyperlor...	OMIM:620450
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Hajdu-Cheney Syndrome	Syringomyelia, Scoliosis, Kyphosis, Biconcave vertebral bodies, Hypoplastic 5th lumbar vertebrae,...	ORPHA:955
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Scoliosis, Hyperlordosis, Kyphosis, Gait ataxia	OMIM:617011
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Brachycephaly, Abnormal periodontium morphology, Tooth malposition, Gingival ove...	ORPHA:480880
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory failure	ORPHA:79404
Autosomal Recessive Robinow Syndrome	Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Death in infancy, Umbilical he...	ORPHA:1507
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Dural ectasia, Scoliosis, Hyper...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Dural ectasia, Scoliosis, Hyper...	ORPHA:363958
Cockayne Syndrome	Hypertonia, Limb hypertonia, Spasticity, Neurogenic bladder, Scoliosis, Kyphosis, Intention tremo...	ORPHA:191
14Q22Q23 Microdeletion Syndrome	Short stature, Downturned corners of mouth, Brachycephaly	ORPHA:264200
Down Syndrome	Brachycephaly, Aganglionic megacolon, Anal atresia, Protruding tongue, Short stature, Duodenal st...	OMIM:190685
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per...	ORPHA:98889
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Thin vermilion border, Delayed eruption of teeth, Hypodontia, Narrow mouth, Short ...	OMIM:264090
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Esophageal Atresia	Scoliosis, Hypertonia, Vocal cord paresis, Abnormal vertebral morphology	ORPHA:1199
Cockayne Syndrome Type 3	Scoliosis, Neurogenic bladder, Kyphosis, Intention tremor	ORPHA:90324
Nocardiosis	Respiratory failure	ORPHA:31204
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Death in infancy, Colpocephaly, Holoprosencephaly, Periventricular heterotopia, Pa...	OMIM:270400
Common Variable Immunodeficiency	Brachycephaly, Anal atresia, Gastrointestinal stroma tumor	ORPHA:1572
Arima Syndrome	Occipital meningocele, Gray matter heterotopia	OMIM:243910
Monosomy 9Q22.3	Abnormality of the vertebral column, Short neck, Kyphosis, Umbilical hernia	ORPHA:77301
Robinow Syndrome, Autosomal Dominant 3	Short neck, Scoliosis, Sacral dimple, Kyphosis	OMIM:616894
Autosomal Recessive Polycystic Kidney Disease	Respiratory failure	ORPHA:731
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Intrauterine growth retardation, Unilateral vocal cord paralysis	ORPHA:324540
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:301111
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Scoliosis, Short neck, Hypertonia, Kyphosis	OMIM:619194
Multiple Endocrine Neoplasia, Type Iib	Scoliosis, Hyperlordosis, Kyphosis	OMIM:162300
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Kyphosis	ORPHA:398069
Cockayne Syndrome B	Death in childhood, Tremor, Kyphosis, Ataxia, Intrauterine growth retardation	OMIM:133540
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Intervertebral space narrowing, Scoliosis, Kyphosis, Narrow vertebral interpedicu...	OMIM:143095
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hemiplegia/hemiparesis, Scoliosis, Kyphosis	ORPHA:394
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Familial Osteodysplasia, Anderson Type	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Scoliosis, Tremor, Kyphosis, Speech apraxia, Ataxia	OMIM:300967
Oculocerebrorenal Syndrome Of Lowe	Respiratory insufficiency, Scoliosis, Kyphosis, Death in infancy, Clonus, Umbilical hernia, Platy...	ORPHA:534
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Dyrk1A-Related Intellectual Disability Syndrome	Intrauterine growth retardation, Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:464306
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Kyphosis, Umbilical hernia	ORPHA:576
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Open mouth	OMIM:615273
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Orofacial cleft, High palate, Growth delay, Cleft upper lip, Frontal bossing, Bifi...	OMIM:607872
Genitopatellar Syndrome	Scoliosis, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Poland Syndrome	Encephalocele, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyp...	ORPHA:2911
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Thick lower lip vermilion, Brachycephaly, Thick vermilion border	OMIM:610442
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, High palate, Bifid uvula, Cleft palate...	OMIM:607932
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis	ORPHA:1969
Smith-Lemli-Opitz Syndrome	Hypertonia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Intrauterine growth retar...	ORPHA:818
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Open mouth	ORPHA:457284
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Lumbar hyperlordosis, Kyphosis, Gait ataxia	ORPHA:457359
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Marden-Walker Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2461
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
1P36 Deletion Syndrome	Brachycephaly, Abnormal intestine morphology, Narrow mouth, Pyloric stenosis, Short stature, Fron...	ORPHA:1606
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:618918
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Abnormal palate morphology, Plagiocephaly	ORPHA:3042
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypertonia, Sacral dimple, Scoliosis, Kyphosis, Ataxia, Intrauterine growth retardation	ORPHA:268261
Camurati-Engelmann Disease	Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Kyphosis, Ataxia	ORPHA:1328
Zttk Syndrome	Spasticity, Hemivertebrae, Scoliosis, Kyphosis, Intrauterine growth retardation	OMIM:617140
Acrofacial Dysostosis, Cincinnati Type	Syringomyelia, Lower limb spasticity, Scoliosis, Vocal cord paralysis, Abnormality of coordinatio...	OMIM:616462
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Brachycephaly, Polyhydramnios, Craniosynostosis, High palate, Sever...	OMIM:268300
Aspartylglucosaminuria	Brachycephaly, Thick lower lip vermilion, Short stature, Wide mouth, Thickened calvaria, Macroglo...	OMIM:208400
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Short philtrum, Narrow mouth, Short stature, Sagittal craniosynostosis	OMIM:620455
Cockayne Syndrome A	Intrauterine growth retardation, Tremor, Ataxia, Kyphosis	OMIM:216400
Orofaciodigital Syndrome Type 14	Aplasia of the epiglottis, Periventricular heterotopia, Partial agenesis of the corpus callosum	ORPHA:434179
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Chronic gastritis, Growth delay, Carious teeth, Prominent palatine ridges, Mild po...	OMIM:150230
Mend Syndrome	Hypertonia, Sacral dimple, Kyphosis	OMIM:300960
Holoprosencephaly 2	Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Mend Syndrome	Sacral dimple, Kyphosis, Limb hypertonia	ORPHA:401973
Liver Disease, Severe Congenital	Plagiocephaly, Pulmonary edema, Protein-losing enteropathy, Chronic gastritis, Ascites, Umbilical...	OMIM:619991
Williams Syndrome	Sacral dimple, Spina bifida occulta, Death in early adulthood, Abnormality of extrapyramidal moto...	ORPHA:904
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Scoliosis, Tethered cord, Kyphosis, Intraut...	OMIM:194190
Marfan Syndrome	Spondylolisthesis, Dural ectasia, Meningocele, Scoliosis, Kyphosis	ORPHA:558
Stickler Syndrome	Spondylolisthesis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Hemiplegia/hemipar...	ORPHA:828
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Aicardi-Goutières Syndrome	Short stature, Plagiocephaly	ORPHA:51
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Alstrom Syndrome	Scoliosis, Kyphosis	OMIM:203800
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Cowden Syndrome	Scoliosis, Ataxia, Kyphosis	ORPHA:201
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
17Q11 Microdeletion Syndrome	Beaking of vertebral bodies T12-L3, Dural ectasia, Abnormality of the vertebral column, Scoliosis...	ORPHA:97685
Ramon Syndrome	Scoliosis, Kyphosis	OMIM:266270
Williams-Beuren Syndrome	Kyphoscoliosis, Poor coordination, Incoordination, Vocal cord paralysis, Umbilical hernia, Intrau...	OMIM:194050
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Cloverleaf skull, Frontal bossing, Oligohydramnios, Craniosynostosis, Anteriorly p...	OMIM:201750
Lenz-Majewski Hyperostotic Dwarfism	Scoliosis, Kyphosis	ORPHA:2658
Primrose Syndrome	Delayed puberty, Brachycephaly, Thick lower lip vermilion, High palate, Narrow mouth, Short statu...	OMIM:259050
Mowat-Wilson Syndrome	Widely spaced teeth, Aganglionic megacolon, Thick lower lip vermilion, Cleft hard palate, Delayed...	ORPHA:2152
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Short stature, Plagiocephaly, Postnatal growth retardation	OMIM:613355
Acromegaly	Spinal canal stenosis, Cerebral palsy, Kyphosis	ORPHA:963
Somatomammotropinoma	Spinal canal stenosis, Cerebral palsy, Kyphosis	ORPHA:314769
Norrie Disease	Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:649
Proteus Syndrome	Scoliosis, Gray matter heterotopia, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:744
Neurofibromatosis Type 1	Scoliosis, Ataxia, Kyphosis	ORPHA:636
Turner Syndrome Due To Structural X Chromosome Anomalies	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Intrauterine growth retardation, Short neck, Scoliosis, Kyphosis	ORPHA:881
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we...	OMIM:300106
Coffin-Lowry Syndrome	Scoliosis, Lumbar kyphosis, Kyphosis	OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Kyphosis, Abnormality of the vertebral column	ORPHA:2273
Wrinkly Skin Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Umbilical hernia	OMIM:278250
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Scoliosis, Kyphosis	OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Scoliosis, Agenesis of corpus callosum, Lateral ventricle dilatation, Periventric...	ORPHA:261537
Sotos Syndrome	Abnormal vertebral morphology, Poor coordination, Scoliosis, Tremor, Kyphosis, Umbilical hernia, ...	ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Scoliosis, Agenesis of corpus callosum, Lateral ventricle dilatation, Periventric...	ORPHA:261552
Branchiooculofacial Syndrome	Branchial anomaly, Hyperlordosis, Kyphosis, Intrauterine growth retardation, Short neck	OMIM:113620
Yunis-Varon Syndrome	Intrauterine growth retardation, Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340
Alström Syndrome	Incoordination, Poor fine motor coordination, Kyphosis, Lumbar scoliosis, Ataxia, Thoracic scoliosis	ORPHA:64

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 Top2b

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Top2b.

No publications found that use IMPC mice or data for Top2b.

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MGI Allele	Allele Type	Produced
Top2b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Top2b^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Top2b MGI:98791

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

Human diseases caused by Top2b mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data