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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
abnormal craniofacial morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Top2b^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	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
small spleen	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
edema	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 eye morphology	Top2b^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Top2b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal head shape	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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

13 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 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	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Tongue fasciculations, Spondyl...	OMIM:600561
Hereditary Neuropathy With Liability To Pressure Palsies	Scoliosis, Vocal cord paralysis, Respiratory insufficiency	ORPHA:640
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory insufficiency due to muscle weakness, Scoliosis, Respiratory fa...	OMIM:300717
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Chudley-Mccullough Syndrome	Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heterotopia, Partial agene...	OMIM:604213
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti...	OMIM:611637
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Death in infancy, Rigidity, Hypertonia, Respiratory failure	OMIM:613869
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis	OMIM:105500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Frequent falls, Myoclonus, Tremor, Abnormal lower motor neuron morphology, Clumsi...	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	Abnormal vertebral morphology, Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Spastic Paraplegia 18B, Autosomal Recessive	Spastic paraplegia, Ankle clonus, Babinski sign, Lower limb spasticity, Scoliosis, Kyphosis, Uppe...	OMIM:611225
Spinal Muscular Atrophy, Type I	Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Abnormal anterior horn cell morphology, Neonatal death, Short neck, Respiratory insuffi...	OMIM:611890
Pontocerebellar Hypoplasia, Type 1C	Tongue fasciculations, Respiratory insufficiency, Death in childhood, Spastic tetraparesis, Respi...	OMIM:616081
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Death in infancy, Respiratory failure, Hypertonia, Respiratory insufficiency	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	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno...	ORPHA:95434
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Respiratory failure, Amyotrophic lateral sclerosis, Fasciculations	OMIM:613435
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Juvenile Primary Lateral Sclerosis	Spasticity, Abnormal upper motor neuron morphology, Abnormal pyramidal sign, Spastic gait, Spasti...	ORPHA:247604
Amyotrophic Lateral Sclerosis 28	Babinski sign, Chaddock reflex, Respiratory failure, Fasciculations	OMIM:620452
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:600348
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus, Abnormal l...	OMIM:613954
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, 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	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos...	ORPHA:71277
Hyperekplexia 4	Umbilical hernia, Myoclonus, Kyphoscoliosis, Hypertonia, Respiratory failure	OMIM:618011
Isolated Dandy-Walker Malformation	Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate	ORPHA:217
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Death in infancy, Hypertonia, Respiratory failure	OMIM:225753
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Brachycephaly...	OMIM:309545
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal s...	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	Frequent falls, Short neck, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scol...	OMIM:300718
Primary Lateral Sclerosis, Juvenile	Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Spastici...	OMIM:606353
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Intrauterine growth retardation, Myoclonus, Rigidity, Respiratory ...	OMIM:619057
Developmental And Epileptic Encephalopathy 71	Simplified gyral pattern, Respiratory failure, Respiratory insufficiency	OMIM:618328
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Respiratory insufficiency, Diaphragmatic paralysis, Scoliosis, Respiratory...	OMIM:614399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Scoliosis, Hyperlordosis, Respiratory insufficiency due t...	OMIM:611067
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Athetosis, Amyotrophic lateral sclerosis	OMIM:300857
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology...	OMIM:602099
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Kyphosis, Respiratory insufficiency, Thoracolumbar scoliosis, 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, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Microcephaly-Microcornea Syndrome, Seemanova Type	Narrow mouth, Brachycephaly, Short stature, High palate, Growth delay	ORPHA:2528
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
2q33.1 deletion syndrome	Short stature, High palate, Cleft palate	DECIPHER:51
Adenylosuccinate Lyase Deficiency	Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Flat occiput	ORPHA:46
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Thomas Syndrome	Dolichocephaly, Oligohydramnios, Cleft palate, Cleft upper lip	ORPHA:3316
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Respiratory insufficiency, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigi...	OMIM:617404
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Ceroid Lipofuscinosis, Neuronal, 10	Spasticity, Respiratory insufficiency, Rigidity, Neonatal death, Ataxia, Respiratory failure	OMIM:610127
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Death in infancy, Neonatal death	OMIM:616287
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Decreased cervical spine mobility, Poor gross motor coordination, Scol...	ORPHA:370968
Ullrich Congenital Muscular Dystrophy	Kyphosis, Frequent falls, Short neck, Torticollis, Scoliosis, Respiratory failure, Spinal rigidity	ORPHA:75840
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Short neck, Respiratory failure	ORPHA:1832
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness, Spina bifida occu...	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	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Respiratory failure, Tremor, Respiratory failure requiring assisted ventilation	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, Neonatal respiratory distress, Respiratory failure, Agenesis of corpus callosum	ORPHA:168486
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Lowry-Maclean Syndrome	Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate	OMIM:600252
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Spastic Paralysis, Infantile-Onset Ascending	Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Scoliosis...	OMIM:607225
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly, Neonatal death	OMIM:614870
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness	OMIM:617087
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men...	ORPHA:101030
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis	ORPHA:2375
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Non-Distal Duplication 10Q	Brachycephaly, Everted lower lip vermilion, Short stature, High palate, Frontal bossing	ORPHA:1695
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Thoracic scoliosis, Lumbar scoliosis, Partial agenesis of the corpus...	OMIM:616171
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Myoclonus, Respiratory failure, Hypertonia	OMIM:618240
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Intention tremor, Babinski sign, Hypertonia, Ataxia, S...	OMIM:616505
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Brachycephaly, Short stature, Craniosynostosis, High palate, Frontal bo...	ORPHA:314575
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Spasticity, Tetraparesis, Amyotrophic lateral sclerosis, Respiratory insufficiency	OMIM:617892
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis, Tremor, Ataxia	ORPHA:101075
Gómez-López-Hernández Syndrome	Short stature, Brachycephaly, Thin vermilion border, Turricephaly	ORPHA:1532
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Spastic gait, Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, ...	OMIM:205100
Pontocerebellar Hypoplasia Type 1	Tongue fasciculations, Spasticity, Ataxia, Respiratory failure, Degeneration of anterior horn cells	ORPHA:2254
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Respiratory failure, Death in infancy	OMIM:616277
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Nonimmune hydrops fetalis, Decreased calvarial ossification, Short...	OMIM:618265
Variegate Porphyria	Paralysis	OMIM:176200
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc...	ORPHA:254875
Spastic Paraplegia 46, Autosomal Recessive	Spastic paraplegia, Hand tremor, Head tremor, Limb dysmetria, Upper limb dysmetria, Ankle clonus,...	OMIM:614409
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Immunodeficiency 95	Respiratory failure	OMIM:619773
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Respiratory i...	OMIM:156530
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Growth delay, Everted lower lip vermilion	OMIM:617768
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Oligohydramnios, Turricephaly, Brachycephaly, Short stature, Cra...	ORPHA:2145
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1314
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid...	ORPHA:275872
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Myoclonus, Death in infancy, Abnormality of extrapyr...	OMIM:605711
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis, Tremor, Ataxia	ORPHA:101078
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Death ...	OMIM:245400
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Clark-Baraitser Syndrome	Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Thin upper lip vermilion, Sh...	OMIM:617752
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Combined Oxidative Phosphorylation Deficiency 4	Spasticity, Intrauterine growth retardation, Death in infancy, Opisthotonus, Respiratory failure	OMIM:610678
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy, Respiratory insufficiency due to muscle weakness	ORPHA:230800
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Frequent falls, Hyperlordosis, Vertebral fusion, Respiratory failure, Scoliosis, Kyphosis	OMIM:606612
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum, Cleft palate	ORPHA:94066
Masa Syndrome	Spastic paraplegia, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis	OMIM:303350
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Intrauterine growth retardation, Kyphosis, Neonatal death	OMIM:618237
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand tremor, Frequent falls, Postural tremor, Babinski sign, Vocal cord paralysis, Abnormal spina...	ORPHA:99947
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnormal pyram...	ORPHA:363400
Aminopterin Syndrome Sine Aminopterin	Umbilical hernia, Intrauterine growth retardation, Oligodontia, Brachycephaly, Short stature, Hig...	OMIM:600325
Parietal Foramina 1	Parietal foramina, Cleft palate, Encephalocele, Cleft upper lip	OMIM:168500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Intrauterine growth retardation, Diaphragmatic paralysis, Ventilator dependence with inability to...	OMIM:604320
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Spinocerebellar Ataxia, Autosomal Recessive 8	Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc...	OMIM:610743
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Intestinal malrotation, Increased nuchal translucency, Orofacial cleft, Deep philt...	ORPHA:77300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Apraxia, Par...	OMIM:105550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Machado-Joseph Disease Type 3	Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Abn...	ORPHA:276244
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
German Syndrome	Lymphedema, Open mouth, Orofacial cleft, Brachycephaly, Everted lower lip vermilion, Short statur...	ORPHA:2077
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Thanatophoric Dysplasia Type 2	Platyspondyly, Respiratory insufficiency, Encephalocele, Abnormality of neuronal migration, Hydro...	ORPHA:93274
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis	OMIM:616756
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Long philtrum, Frontal bossing, Brachycephaly, Disprop...	OMIM:200610
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Intrauterine growth retard...	ORPHA:228390
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ...	OMIM:616212
Intellectual Developmental Disorder, Autosomal Dominant 26	Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Brachycephaly, Deep philtrum, Th...	OMIM:615834
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Turricephaly, Brachycephaly, Short philtrum	OMIM:601224
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra...	OMIM:604757
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Increased nuchal translucency, Thin upper lip vermilion, Brachycephaly, Polyhydram...	OMIM:618862
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
2Q32Q33 Microdeletion Syndrome	Dental crowding, Long philtrum, Narrow mouth, Oligodontia, Brachycephaly, Cleft palate, Short sta...	ORPHA:251019
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron...	ORPHA:803
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, Spinal rigidity	OMIM:620326
Chopra-Amiel-Gordon Syndrome	Cleft lip, Postnatal growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly...	OMIM:619504
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Dysdiadochokinesis, Fasciculations, Chorea, Postural tremor, Dysme...	ORPHA:98755
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis, Prenatal death, Neonatal death	OMIM:618393
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Brachycephaly, Delayed puberty, Short philtrum	ORPHA:52022
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Cornelia De Lange Syndrome 2	Downturned corners of mouth, Postnatal growth retardation, Intrauterine growth retardation, Thin ...	OMIM:300590
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Respiratory insufficiency, Myoclonus, Death in infancy, Abnormality of extrapyramidal...	OMIM:614299
X-Linked Adrenoleukodystrophy	Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Neurogenic b...	ORPHA:43
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Agenesis of corpus callosum	OMIM:312170
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Abnormal cortical gyration, Neonatal respiratory distress, Respiratory failure	OMIM:616867
Foodborne Botulism	Cardiorespiratory arrest, Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weak...	ORPHA:228371
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Dental crowding, Frontal bossing	OMIM:619264
Multiple Mitochondrial Dysfunctions Syndrome 3	Spastic tetraplegia, Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:615330
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Cerebral palsy, Myoclonus, Death in childhood, Opisthotonus, Babinski sign, Clonus, H...	OMIM:619847
Alg1-Cdg	Respiratory failure, Scoliosis, Kyphosis	ORPHA:79327
Spastic Paraplegia 53, Autosomal Recessive	Spastic paraplegia, Upper limb hypertonia, Clonus, Kyphosis, Lower limb hypertonia	OMIM:614898
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Chorea, Intention tremor, Dysmetria, Abnormality of the cervical...	ORPHA:48431
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Scoliosis, Kyphosis	ORPHA:99014
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Tetraparesis, Death in childhood, Tremor, Rigidity, Torticollis,...	OMIM:617186
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Kyphosis, Ataxia	OMIM:620007
Machado-Joseph Disease Type 1	Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab...	ORPHA:276241
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Neurogenic bladder, Abnormal upper motor neuron morphology, Tetraparesis	OMIM:263570
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Babinski sign, Atrophy of ...	OMIM:602433
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death	OMIM:253310
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Respiratory insufficiency, Death in childhood, Ankle clonus, Clumsiness, V...	OMIM:211530
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Tented upper lip vermilion, Long philtrum	OMIM:619972
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Oligodontia, Thin upper lip vermilion, Short stature, Frontal bossing	OMIM:618330
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Leigh Syndrome, Nuclear	Ataxia, Spasticity, Respiratory failure, Respiratory insufficiency	OMIM:256000
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Downturned corners of mouth, Long philtrum, Brachycephaly, Short stature, Hi...	OMIM:608027
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Neuropathic spinal arthropathy	OMIM:607706
Snakebite Envenomation	Respiratory paralysis, Paralysis, Respiratory failure, Pseudobulbar paralysis	ORPHA:449285
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Intrauterine growth ret...	OMIM:613792
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Short stature, Cleft ...	OMIM:611867
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Chorea, Respiratory failure, Ataxia	ORPHA:70472
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Short philtrum, Brachycephaly, Everted lower lip vermilion, S...	ORPHA:1387
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia, Scoliosis, K...	OMIM:617435
Boucher-Neuhauser Syndrome	Spasticity, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Intention tremor	OMIM:215470
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Plagiocephaly, Brachycephaly, High palate, Cleft palate	OMIM:618603
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis, Respiratory failure, Scoliosis, Intercostal muscle weakness	OMIM:606071
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Fasciculations, Babinski sign, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis	OMIM:615290
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Respiratory insufficiency, Neonatal death, Babinski sign, Respiratory failure	OMIM:618186
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations	OMIM:616437
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 74	Thin upper lip vermilion, Smooth philtrum, Intrauterine growth retardation, Brachycephaly	OMIM:620688
Pierpont Syndrome	Widely spaced teeth, Prominent median palatal raphe, Smooth philtrum, Brachycephaly, Everted lowe...	OMIM:602342
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly, Dental crowding	ORPHA:320385
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Death in infancy	ORPHA:1354
Pierpont Syndrome	Widely spaced teeth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Everted lower lip ...	ORPHA:487825
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Deep philtrum, Downturned corners of mouth	OMIM:618859
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus, Respiratory insufficiency	ORPHA:1895
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly, Occipital encephalocele	OMIM:614416
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Narrow mouth, ...	OMIM:618089
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Intrauterine growth retardation, Thin upper lip vermilion, Smooth p...	OMIM:615419
Crisponi Syndrome	Respiratory insufficiency, Death in infancy, Hypertonia, Scoliosis, Kyphosis	ORPHA:1545
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus, Death in childhood, Death in infancy, Neonatal death, Stillbirt...	OMIM:614922
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly, High palate	OMIM:618774
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Slur...	OMIM:230650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Death in infancy, ...	OMIM:614643
6Q25 Microdeletion Syndrome	Plagiocephaly, Long philtrum, Short stature, High palate, Cleft palate	ORPHA:251056
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Death in childhood, Babinski sign, Ataxia, Spastic tetraparesis, Respiratory failure	OMIM:615838
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Hypodontia, Brachyceph...	ORPHA:1598
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly, Dental crowding	OMIM:615031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Agyria, Respiratory failure, Hydrocephalus, Polymicrogyria	OMIM:616538
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Respiratory insufficiency, Progressive cervical vertebral spine ...	OMIM:135100
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Autosomal Recessive Spastic Paraplegia Type 53	Clonus, Kyphosis, Upper limb hypertonia	ORPHA:319199
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Cornelia De Lange Syndrome 5	Downturned corners of mouth, Long philtrum, Widely spaced teeth, Postnatal growth retardation, Br...	OMIM:300882
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios, Plagiocephaly	ORPHA:521390
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Fasciculations, Abnormal moto...	ORPHA:52430
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, Short philtrum	OMIM:615433
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Fasciculations, Neurogenic bladder, Tetraplegia, Ataxia, Progressive spast...	ORPHA:496641
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, 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	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:609981
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Scoliosis, Kyphosis	ORPHA:3454
Coffin-Siris Syndrome 6	High, narrow palate, Plagiocephaly, Deep philtrum, Short stature, Short philtrum, Frontal bossing...	OMIM:617808
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Brachycephaly, Short stature, High ...	OMIM:602849
Thanatophoric Dysplasia	Platyspondyly, Respiratory insufficiency, Hydrocephalus, Gray matter heterotopia, Kyphosis	ORPHA:2655
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Neonatal death, Hydrocephalus, Respiratory failure	OMIM:616482
Even-Plus Syndrome	Severe short stature, Oligohydramnios, Hypodontia, Brachycephaly, High palate, Anal atresia	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	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Respiratory insufficiency, Death...	ORPHA:682
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Infantile-Onset X-Linked Spinal Muscular Atrophy	Tongue fasciculations, Abnormal anterior horn cell morphology, Respiratory insufficiency, Kyphosc...	ORPHA:1145
Triosephosphate Isomerase Deficiency	Spasticity, Kyphosis, Respiratory insufficiency, Tremor, Death in infancy, Death in adolescence, ...	OMIM:615512
Grant Syndrome	Open bite, Abnormal palate morphology, Brachycephaly, Short stature, Frontal bossing	ORPHA:2097
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Brachyturricephaly, Cleft upper lip, Ethmoidal encephalocele,...	OMIM:607597
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Intrauterine growth retardation, Open mouth, Thin upper lip vermilion, Smooth phil...	OMIM:616801
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis, Respiratory insufficiency	ORPHA:178148
Winchester Syndrome	Kyphosis	OMIM:277950
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central...	ORPHA:66625
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Scoliosis, Kyphosis	ORPHA:2429
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Apraxia, Parkinsonism, Abnormality of extrapyramidal moto...	ORPHA:100070
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Downturned corners of mouth, Open bite, Intrauterine growth retardation, Nar...	ORPHA:1327
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Long philtrum, Unilambdoid synostosis, Brachycephaly, Broad philtrum	OMIM:618577
Thanatophoric Dysplasia, Type I	Platyspondyly, Neonatal respiratory distress, Neonatal death, Severe platyspondyly, Hydrocephalus...	OMIM:187600
Aica-Ribosiduria	Thin upper lip vermilion, Brachycephaly, Wide mouth	ORPHA:250977
Vulto-Van Silfhout-De Vries Syndrome	Thick lower lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Frontal bossing	OMIM:615828
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Dysmetria, Ataxia	OMIM:618233
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor gross motor coordination, Scoliosis, Frequent falls, Poor fine motor coo...	ORPHA:99948
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
8Q12 Microduplication Syndrome	Brachycephaly, Narrow mouth, Everted lower lip vermilion, Long philtrum	ORPHA:228399
Frontonasal Dysplasia 3	Tessier cleft, Brachycephaly, Cleft palate	OMIM:613456
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Spasticity, Cataplexy, Respiratory insufficiency, Death in childho...	OMIM:607625
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Scoliosis, Respiratory failure	ORPHA:98913
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Dolichocephaly	ORPHA:272
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Downturned corners of mouth, Prominent occiput, Brachycephaly, Dolichocephaly, Sho...	OMIM:618672
Unilateral Ocular Duplication	Frontal bossing, Encephalocele, Median cleft upper lip, Polyhydramnios, Dolichocephaly, Midline f...	ORPHA:3374
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Intrauterine growth retardation, Tremor, Limb hypertonia, Exaggerated startle res...	OMIM:620327
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Congenital Heart Defects And Ectodermal Dysplasia	Widely spaced teeth, Premature loss of primary teeth, Microdontia, Brachycephaly, Frontal bossing	OMIM:617364
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly, Anal atresia	ORPHA:93950
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis, Ataxia	ORPHA:85317
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Lumbar hyperlordosis, Agenesis of...	ORPHA:370959
3-Methylglutaconic Aciduria Type 7	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram...	ORPHA:445038
Brachyolmia Type 3	Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis	OMIM:113500
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Polymicrogyria, Respiratory insufficiency, Acute respiratory distre...	OMIM:617397
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies, Respiratory insuff...	ORPHA:93941
Craniofrontonasal Dysplasia	Abnormality of the dentition, Plagiocephaly, Orofacial cleft, Brachycephaly, Craniosynostosis, Hi...	ORPHA:1520
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal...	ORPHA:500180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotopia, Communicating ...	OMIM:615219
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Gm2-Gangliosidosis, Ab Variant	Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet...	OMIM:272750
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, High, narrow palate, Bifid uvula, Delayed eruption of teeth, Facial hyperos...	ORPHA:2780
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Cleft upper lip, Brachycephaly, Cleft palate	OMIM:300958
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Brachycephaly, Short stature, Abnormal shape of the occiput, Frontal bossing,...	OMIM:218350
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Intellectual Developmental Disorder, Autosomal Dominant 23	Dental crowding, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Smooth phi...	OMIM:615761
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Sjögren-Larsson Syndrome	Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia	ORPHA:816
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Polymicrogyria, Death in infancy, Agene...	OMIM:608836
Pseudodiastrophic Dysplasia	Severe short stature, Rhizomelia, Smooth philtrum, Brachycephaly, Frontal bossing	OMIM:264180
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Frontal bossing, Open mouth, Brachycephaly, Everted lower lip vermilion, Macroglos...	OMIM:616789
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Abnormal form of the vertebral bodies, Hemivertebrae	ORPHA:2759
Poliomyelitis	Myelitis, Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis, Respiratory failure, Re...	ORPHA:2912
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Spasticity, Poor coordination, Respiratory failure	OMIM:250940
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp...	OMIM:608647
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Myopathy, Centronuclear, 2	Intrauterine growth retardation, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	OMIM:255200
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Turricephaly, Smooth philtrum, Brachycephaly, Short stature, Craniosynostosis, H...	OMIM:601853
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia	OMIM:221770
2Q23.1 Microdeletion Syndrome	Macrodontia, Open mouth, Tented upper lip vermilion, Brachycephaly, Everted lower lip vermilion, ...	ORPHA:228402
Muscular Dystrophy, Duchenne Type	Respiratory failure, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness	OMIM:310200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Long philtrum, Umbilical hernia, Turricephaly, Brachycephaly, Thin vermilion border, Craniosynost...	ORPHA:171839
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Postnatal g...	OMIM:179613
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Intrauterine growth retardation, Respiratory failure, Death in infancy	ORPHA:1194
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Gait ataxia...	ORPHA:3095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput	OMIM:618736
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis, Ataxia	OMIM:300861
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Brachycephaly, Polyh...	ORPHA:1790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Short philtrum	OMIM:618731
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Ascites, Intrauterine growth retardation, Pleural effusion, Brachycephaly, ...	OMIM:616897
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Scoliosis, Hyperlordosis	OMIM:620249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, Open mouth, Br...	ORPHA:369891
Al Kaissi Syndrome	High, narrow palate, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation...	OMIM:617694
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann...	OMIM:601162
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Downturned corners of mouth, Thick upper lip vermilion, Intrauterine growth retard...	OMIM:617360
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly	OMIM:612247
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Neonatal respiratory distress, Intercostal muscle weakness, Respiratory in...	ORPHA:70
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Brachycephaly, High palate, Frontal bossing	OMIM:615539
Fetal Trimethadione Syndrome	Brachycephaly, Intrauterine growth retardation, High palate	ORPHA:1913
Lessel-Kreienkamp Syndrome	Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip vermilion, Frontal ...	OMIM:619149
Hemimegalencephaly	Pachygyria, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:2476
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Rhizomelic arm shortening, Posterior plagiocephaly	ORPHA:96190
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Muscular Dystrophy, Congenital, With Or Without Seizures	Frequent falls, Respiratory failure, Ataxia	OMIM:620166
Hall-Riggs Syndrome	Platyspondyly, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Short neck, Respiratory failure	OMIM:618804
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Wide mouth, Growth delay, Thick vermilion border	ORPHA:85290
Acrofrontofacionasal Dysostosis	Brachycephaly, Everted lower lip vermilion, Short stature, High palate, Non-midline cleft of the ...	ORPHA:1784
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Disproportionate short-limb short stature, Agenesis of permanent teeth, Intrauteri...	OMIM:618644
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Cerebral palsy, Umbilical hernia, Hypertonia, Scoliosis, Kyphosis	ORPHA:352490
Rhizomelic Limb Shortening With Dysmorphic Features	Smooth philtrum, Rhizomelia, Plagiocephaly, Long philtrum	OMIM:618821
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Frontal bossing, Tented upper lip vermilion, Triangular mouth...	OMIM:619762
Frontonasal Dysplasia 2	Conical tooth, Parietal foramina, Widely spaced teeth, Intrauterine growth retardation, Oligohydr...	OMIM:613451
Enlarged Parietal Foramina	Cleft lip, Occipital encephalocele, Parietal foramina, Myelomeningocele, Craniosynostosis, Cleft ...	ORPHA:60015
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:265120
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen	OMIM:602361
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:899
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Ankle clonus, Babinski sign, Exaggerated startle response, Scoliosis, Kyphosis	OMIM:609541
Hypomelanosis Of Ito	Gray matter heterotopia, Scoliosis, Kyphosis	OMIM:300337
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Frequent falls, Respiratory failure	OMIM:603689
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Cranial asymmetry, Long philtrum, Thick lower lip vermilion	ORPHA:137634
Craniodigital-Intellectual Disability Syndrome	Short stature, Spina bifida occulta, Brachycephaly	ORPHA:1514
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Abnormal lip morphology, Abnormal upper lip morphology, Wide mouth, Microdon...	ORPHA:2707
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Myoclonus, Neurogenic bladder, Vocal cord paralysis, Scoliosis	ORPHA:500144
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia, Open mouth, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:616579
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Tremor, Kyphoscoliosis, Polyminimyoclonus, Scoliosis	OMIM:619574
Pentasomy X	Short stature, Plagiocephaly, Delayed puberty	ORPHA:11
Larsen-Like Syndrome	Dental malocclusion, Brachycephaly, Short stature, Frontal bossing, Cleft palate	OMIM:608545
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth	ORPHA:352530
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Bresek Syndrome	Plagiocephaly, Intrauterine growth retardation, Aganglionic megacolon, Growth delay, Cleft palate	ORPHA:85284
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Joubert Syndrome	Abnormal form of the vertebral bodies, Polymicrogyria, Encephalocele, Abnormality of neuronal mig...	ORPHA:475
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion b...	OMIM:618106
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Oligohydramnios, Plagiocephaly	ORPHA:1143
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Scoliosis, Kyphosis, Umbilical hernia	ORPHA:2181
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuron...	ORPHA:157
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Short neck, Hyperlordosis, Vocal cord paralysis, Respiratory insufficiency due to muscl...	ORPHA:98863
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Brachycephaly, Unilateral cleft lip, Flat occiput	ORPHA:2511
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate	OMIM:605282
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Brachycephaly, High palate, Short philtrum	ORPHA:776
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis, Respiratory insufficiency	ORPHA:2771
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Downturned corners of mouth, Long philtrum, Anterior plagiocephaly, Brachycephaly, High palate, F...	ORPHA:163649
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Crouzon Syndrome	Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Narrow palate, Frontal bossing	ORPHA:207
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Frontal bossing, Abnormal palate morphology, Turricephaly	ORPHA:93262
Faciocardiorenal Syndrome	Plagiocephaly, Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate	ORPHA:1973
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Respiratory failure, Abnormal sperm motility, Hydrocephalus	ORPHA:244
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Plagiocephaly, Tented upper lip vermilion, Anterior plagiocephaly, Aganglionic meg...	OMIM:614749
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Gait ataxia, Vocal cord paresis, Scoliosis	OMIM:614895
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia, Kyphoscoliosis	ORPHA:370980
Wieacker-Wolff Syndrome, Female-Restricted	Downturned corners of mouth, Long philtrum, Brachycephaly, Polyhydramnios, Short stature, U-Shape...	OMIM:301041
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure	OMIM:263000
Autosomal Recessive Ataxia, Beauce Type	Spasticity, Fasciculations, Dysmetria, Ankle clonus, Babinski sign, Clumsiness, Lower limb spasti...	ORPHA:88644
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Glioblastoma	Paralysis	ORPHA:360
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis	ORPHA:464282
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Frontal bossing, Ascites, Villous atrophy, Brachycephaly, Pericardial effusion, Hy...	OMIM:608776
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Umbilical hernia, Respiratory insufficiency, Intrauterine ...	ORPHA:2311
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Oligohydramnios, Turricephaly,...	ORPHA:2167
Postencephalitic Parkinsonism	Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram...	ORPHA:97349
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis, Ataxia	OMIM:618124
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Prominent occiput, Brachycephaly, Anal atresia, Cleft palate	OMIM:220210
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Respiratory insufficiency, Intrauterine growth retardation, Limb hypertonia, Spastic te...	OMIM:619909
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Tremor, Babinski sign, Hyperlordosis, Torticollis, Hypertonia, Scoliosis, Kyphosis	OMIM:128100
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Brachycephaly, Short stature, Spina bifida occulta, Cleft palate	OMIM:268850
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Titubation, Respiratory failure, Ataxia	ORPHA:280210
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Long philtrum, Brachycephaly, Short stature, Dolichocephaly, Frontal bossing	OMIM:619721
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ...	OMIM:603116
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Brachycephaly,...	ORPHA:1292
Pelizaeus-Merzbacher Disease	Spasticity, Respiratory insufficiency, Ataxia, Scoliosis, Kyphosis, Choreoathetosis	ORPHA:702
Mitochondrial Dna Depletion Syndrome 11	Respiratory insufficiency, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Brachycephaly, Short stature, Non-midline cleft of the upper lip, C...	ORPHA:1791
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Intestinal malrotation, Submucous c...	OMIM:614701
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly	OMIM:617481
Houge-Janssens Syndrome 3	Plagiocephaly, Umbilical hernia, High palate, Short philtrum, Frontal bossing	OMIM:618354
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Intrauterine growth retardation, Tented upper lip vermilion, Exaggerated cupid's b...	OMIM:619833
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Vocal cord paralysis, Respiratory insufficiency due to muscle weakness, ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Vocal cord paralysis, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98853
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Long philtrum, Intrauterine growth retardation, Thin upper lip vermilion, Brachycephaly, Short st...	OMIM:617452
Sialidosis Type 2	Ataxia, Kyphosis, Tremor, Umbilical hernia	ORPHA:87876
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Thanatophoric Dysplasia Type 1	Platyspondyly, Respiratory insufficiency, Hydrocephalus, Gray matter heterotopia, Kyphosis	ORPHA:1860
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Widely spaced teeth, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, Sho...	ORPHA:459061
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Vocal cord paralysis, Respiratory insufficiency	OMIM:615490
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:53271
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect	ORPHA:2617
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Frontal bossing, Abnormal dental enam...	ORPHA:85199
Oculopharyngodistal Myopathy	Vocal cord paresis, Paraplegia, Respiratory insufficiency due to muscle weakness	ORPHA:98897
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Thin upper li...	OMIM:618430
Infantile Krabbe Disease	Spasticity, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Decerebrate rigidity, R...	ORPHA:206436
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Thin upper lip v...	ORPHA:404440
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Downturned corners of mouth, Long philtrum, Frontal bossing, Open mouth, Narrow mo...	OMIM:619720
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Tooth agenesis, Abnormal palate morphology, Multiple unerupted teeth, Anal atresia...	ORPHA:2063
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Intrauterine growth retardation, High palate	OMIM:618142
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Chromosome 5P13 Duplication Syndrome	Downturned corners of mouth, Turricephaly, Brachycephaly, High palate, Craniosynostosis, Short ph...	OMIM:613174
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Myelopathy, Gait ataxia, Cervical C2/C3 vertebral fusion, Babinski...	ORPHA:268882
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth	OMIM:616708
Williams-Beuren Region Duplication Syndrome	Diastema, Short philtrum, Brachycephaly, Short stature, High palate	OMIM:609757
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later...	OMIM:606070
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Postnatal growth retardatio...	OMIM:605627
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Spasticity, Short neck, Oculomotor apraxia, Apraxia, Hyperlordosis...	OMIM:314580
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Spinal cord compression, Hyperlordosis, Kyphosis, Fused cervical vertebrae	ORPHA:2522
Tetrasomy 18P	Abnormality of neuronal migration, Scoliosis	ORPHA:3307
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Involuntary movements, Incoordination, Chorea, Myoclonus, Intentio...	ORPHA:209905
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Antley-Bixler Syndrome	Long philtrum, Narrow mouth, Turricephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Clef...	ORPHA:83
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Intrauterine growth retardation, Tented upper lip vermilion, Thin upper lip vermil...	ORPHA:371364
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory failure, Cardiorespiratory arrest, Gray matter heterotopia, Hyperlordosis	ORPHA:26791
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Smooth philtrum, Brachycephaly, Tented upper lip vermilion	OMIM:620240
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Ataxia, Truncal ataxia, Respiratory failure, Respiratory insufficiency due to...	OMIM:220110
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Spastic tetraplegia, Head titubation, Respiratory failure	ORPHA:3240
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Dental crowding, Brachycephaly, Polyhydramnios, Short philtrum, Frontal bossing	OMIM:617296
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor	ORPHA:684
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di...	ORPHA:2635
Smith-Magenis Syndrome	Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Orofacia...	OMIM:182290
3C Syndrome	Death in infancy, Abnormality of neuronal migration, Hydrocephalus, Hemivertebrae, Scoliosis, Kyp...	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Intellectual Developmental Disorder, Autosomal Dominant 48	Intrauterine growth retardation, Plagiocephaly, Open mouth, Umbilical hernia	OMIM:617751
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
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	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Anteriorly placed anus, Oligohydramnios,...	ORPHA:247262
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Long philtrum, Intrauterine growth retardation, Thin upper lip vermilion, Brachycephaly, Short st...	ORPHA:505237
Cooper-Jabs Syndrome	Anteriorly placed anus, Umbilical hernia, Brachycephaly, Short stature, Frontal bossing	ORPHA:1488
Malan Overgrowth Syndrome	Plagiocephaly, Scaphocephaly, Narrow mouth, High palate, Frontal bossing	ORPHA:420179
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Thick vermilion border, Short philtrum, Brachycephaly, High palate, Short stature,...	OMIM:619435
Desmosterolosis	Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ...	ORPHA:35107
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Thin upper lip vermilion, Smooth philtrum, Short philtrum, High palate, Growth delay	OMIM:619188
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Meningocele, Death in infancy	ORPHA:2481
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Scoliosis, Encephalocele	ORPHA:2318
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Inverted Duplicated Chromosome 15 Syndrome	Short philtrum, Brachycephaly, High palate, Growth delay	ORPHA:3306
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Umbilical hernia, Intrauterine growth retardation, Br...	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	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Scapuloperoneal Spinal Muscular Atrophy	Respiratory insufficiency, Hyperlordosis, Torticollis, Scoliosis, Kyphosis	OMIM:181405
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Baralle-Macken Syndrome	Spasticity, Kyphosis	OMIM:619255
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Respiratory insufficiency,...	ORPHA:628
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Downturned corners of mouth, Intestinal malrotation, Thin upper lip vermilion, Sho...	ORPHA:457193
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental crowding, Brachycephaly, Sagittal c...	OMIM:123500
Cutis Laxa, Autosomal Recessive, Type Iiia	Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Brachycephaly, Short stature, Fr...	OMIM:219150
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Tremor, Death in ...	OMIM:610505
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morphology, Narrow mouth, Ten...	OMIM:612582
Summitt Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:3210
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Marshall Syndrome	Abnormality of the dentition, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion...	ORPHA:560
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Plagiocephaly, Natal tooth, Umbilical hernia, Thick lower lip vermi...	ORPHA:261652
Baller-Gerold Syndrome	Brachyturricephaly, Anteriorly placed anus, Frontal bossing, Intrauterine growth retardation, Nar...	ORPHA:1225
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Intercostal muscle weakness, Hyperlordosis, Pachygyria, Scoliosis, Res...	ORPHA:258
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Trigonocephaly, Gingival overgrowth...	OMIM:619148
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Brachycephaly, Short stature, Polyhydramnios, Broad philtrum, Wide mouth, Cleft ...	ORPHA:1394
Mucopolysaccharidosis, Type Iva	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Lumbar kyphosis, Short ne...	OMIM:253000
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuron...	ORPHA:228308
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis, Respiratory insufficiency	ORPHA:3191
Leigh Syndrome	Spasticity, Involuntary movements, Intrauterine growth retardation, Chorea, Abnormality of extrap...	ORPHA:506
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Periventricular heterotopia, Agenesis of corpus callosum...	OMIM:618476
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, T...	OMIM:234100
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Dental malocclusion, Widely spaced teeth, Frontal bossing, Exaggerated cupid's bow...	OMIM:619293
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Glycine Encephalopathy With Normal Serum Glycine	Clonus, Respiratory failure, Hypertonia, Exaggerated startle response	OMIM:617301
Avian Influenza	Myelitis, Respiratory failure, Miscarriage	ORPHA:454836
Charcot-Marie-Tooth Disease Type 4B2	Respiratory insufficiency, Tremor, Kyphoscoliosis, Vocal cord paralysis, Scoliosis, Poor fine mot...	ORPHA:99956
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
Smith-Magenis Syndrome	Cleft upper lip, Open mouth, Tented upper lip vermilion, Delayed eruption of primary teeth, Tauro...	ORPHA:819
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Ullrich Congenital Muscular Dystrophy 1A	Respiratory insufficiency, Torticollis, Respiratory insufficiency due to muscle weakness, Scolios...	OMIM:254090
4Q21 Microdeletion Syndrome	Intrauterine growth retardation, Tremor, Short neck, Scoliosis, Kyphosis	ORPHA:238750
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Abnormality of the dentition, Umbilical hernia, Oligodontia, Brachyceph...	ORPHA:2095
Fg Syndrome Type 1	Abnormal large intestine morphology, Dental crowding, Plagiocephaly, Long philtrum, Umbilical her...	ORPHA:93932
Developmental And Epileptic Encephalopathy 110	High palate, Tented upper lip vermilion, Posterior plagiocephaly	OMIM:620149
Xq28 (MECP2) duplication	Brachycephaly, Narrow mouth	DECIPHER:45
Marinesco-Sjogren Syndrome	Spasticity, Limb ataxia, Gait ataxia, Ataxia, Scoliosis, Kyphosis	OMIM:248800
20Q11.2 Microduplication Syndrome	Tented philtrum, Trigonocephaly, Gingival overgrowth, Tented upper lip vermilion, Abnormal oral f...	ORPHA:363659
Trisomy 20P	Abnormality of the dentition, Plagiocephaly, Downturned corners of mouth, Umbilical hernia, Abnor...	ORPHA:261318
Congenital Multicore Myopathy With External Ophthalmoplegia	Scoliosis, Respiratory failure	ORPHA:98905
Microphthalmia/Coloboma 12	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Plagiocephaly, Downturned corners of mouth, Long philtrum, Narrow mouth, Ex...	ORPHA:2215
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Noonan Syndrome 13	Plagiocephaly, Long philtrum, Lymphedema, Widely spaced teeth, Microdontia, High palate, Wide mou...	OMIM:619087
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Growth delay	OMIM:308350
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Smooth philtrum, Brachycephaly, Oligohydramnios	OMIM:263210
19P13.12 Microdeletion Syndrome	Long philtrum, Intrauterine growth retardation, Hypodontia, Brachycephaly, Thin vermilion border,...	ORPHA:254346
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Pde4D Haploinsufficiency Syndrome	Long philtrum, Abnormal dental enamel morphology, Postnatal growth retardation, Intrauterine grow...	ORPHA:439822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Furrowed tongue, Intrauterine growth ret...	ORPHA:453499
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Respiratory failure, Death in childhood, Thoracic scoliosis	OMIM:620278
Rift Valley Fever	Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, Miscarriage	ORPHA:319251
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Sialidosis Type 1	Abnormal form of the vertebral bodies, Myoclonus, Tremor, Ataxia, Scoliosis, Kyphosis, Slurred sp...	ORPHA:812
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Gait ataxia, Abnormal spinal cord morphology, Ataxia, Scoliosis, Kyphosis	ORPHA:88628
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure	OMIM:620296
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Abnormal dental enamel morphology, Macrodontia, Hypodontia, Short stature, Cleft p...	ORPHA:2916
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beak...	OMIM:230500
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Plagiocephaly, Intrauterine growth retardation, Short stature, Thic...	ORPHA:363528
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation...	OMIM:612513
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open...	ORPHA:1452
Aica-Ribosiduria Due To Atic Deficiency	Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing	OMIM:608688
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Frequent falls, Abnormality of the vertebral column	ORPHA:101097
3-Methylglutaconic Aciduria, Type Viii	Tremor, Neonatal death, Respiratory arrest, Death in infancy, Clonus, Hypertonia, Respiratory fai...	OMIM:617248
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Plagiocephaly, Umbilical hernia, Oligohydramnios, Turricephaly, Short philtr...	OMIM:613776
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Brachycephaly, Non-midline cleft of...	ORPHA:236
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Mercury Poisoning	Respiratory failure, Tremor	ORPHA:330021
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Long philtrum, Pursed lips, Narrow mouth, Smooth philtrum, Brachycephaly, Short stature, High palate	ORPHA:562528
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Delayed eruption of teet...	OMIM:257850
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Congenital Myopathy 22A, Classic	Respiratory insufficiency, Frequent falls, Thoracic scoliosis, Neonatal death, Scoliosis, Kyphosi...	OMIM:620351
Inhalational Botulism	Paralysis	ORPHA:254504
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Downturned corners of mouth, Cleft upper lip, Anteriorly placed anus, Abnormal rec...	OMIM:239300
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis	ORPHA:37553
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Acrofrontofacionasal Dysostosis 2	Short stature, Brachycephaly, High palate	OMIM:239710
3P25.3 Microdeletion Syndrome	High, narrow palate, Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Deep p...	ORPHA:435638
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental malocclusion, Delayed eruption of t...	OMIM:614188
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Frequent falls, Respiratory failure, Respiratory insufficiency	ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Frequent falls, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Tick-Borne Encephalitis	Tongue fasciculations, Myelitis, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, ...	ORPHA:297
19P13.13 Microdeletion Syndrome	Increased nuchal translucency, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Brachycep...	ORPHA:357001
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Hydrocephalus, Stillbirth	OMIM:259720
Adenylosuccinase Deficiency	Growth delay, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Wide mouth	OMIM:103050
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, Short philtrum, Brachycephaly, A...	OMIM:617746
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Open mouth, Umbilical hernia	ORPHA:500159
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Dysostosis, Stanescu Type	Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, A...	ORPHA:1798
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Holoprosencephaly 7	Unilateral cleft lip, Frontal bossing, Median cleft palate, Bilateral cleft palate, Median cleft ...	OMIM:610828
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness	ORPHA:600
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Butterfly vertebrae, Periventricular heterotopia, Hyperlordosis, C...	OMIM:618870
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:183900
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
ERI1-related disease	Velopharyngeal insufficiency, Trigonocephaly, Intrauterine growth retardation, Brachycephaly, Sho...	OMIM:608739
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Long philtrum, Tented upper lip vermilion, Thin upper lip vermilion, Short philtrum, Brachycephal...	OMIM:619244
Lateral Meningocele Syndrome	Dural ectasia, Tethered cord, Umbilical hernia, Biconcave vertebral bodies, Syringomyelia, Short ...	OMIM:130720
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Long philtrum, Tented upper lip vermilion, Thick vermilion border, High palate, Fl...	OMIM:619383
Basilar Impression, Primary	Syringomyelia, Abnormal cervical myelogram, Short neck, Kyphoscoliosis	OMIM:109500
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Orofacial cleft, Brachycephaly, ...	OMIM:601701
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Postnatal growth retardation, Macrodontia, Gingival overgrowth, Open mou...	OMIM:212066
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Thickened calvaria,...	OMIM:309583
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Downturned corners of mouth, Long philtrum, Frontal bossing, Microdontia, Thin upp...	OMIM:610759
Raine Syndrome	Plagiocephaly, Natal tooth, Brachyturricephaly, Gingival overgrowth, Narrow mouth, Protruding ton...	OMIM:259775
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure	OMIM:617895
Holoprosencephaly 14	Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq...	OMIM:619895
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Tracheoesophageal fistula, Esophageal atresia, Polyhydramnios, Short stature	OMIM:619859
Acromelic Frontonasal Dysplasia	Median cleft palate, Encephalocele, Median cleft upper lip, Brachycephaly, Meningocele, Wide mouth	ORPHA:1827
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Brachycephaly, High palate	OMIM:619995
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Ce...	OMIM:253010
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly...	ORPHA:1299
Fliedner-Zweier Syndrome	Tethered cord, Hypertonia, Meningocele, Scoliosis, Kyphosis	OMIM:620511
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Unilateral vocal cord paresis, Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae, Tet...	OMIM:617660
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Spinal cord compression, Cervical inst...	ORPHA:94068
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Widely spaced teeth, Tented upper lip vermilion, Narrow mouth, Brachycephaly, High palate, Growth...	OMIM:300260
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death	OMIM:610921
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Stevenson-Carey Syndrome	Brachycephaly, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence	OMIM:611961
Typical Nemaline Myopathy	Respiratory insufficiency, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:171436
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis, Hypertonia	OMIM:108145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Downturned corners of mouth, Long phil...	OMIM:615398
Combined Oxidative Phosphorylation Deficiency 37	Spasticity, Respiratory failure, Respiratory insufficiency	OMIM:618329
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Short ...	OMIM:619227
Flynn-Aird Syndrome	Scoliosis, Kyphosis, Ataxia	ORPHA:2047
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Plagiocephaly, Dental crowding, Long philtrum, Umbilical hernia, In...	OMIM:305450
Acute Lung Injury	Respiratory failure	ORPHA:178320
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Lumbar hyperlordosis, Scoliosis	OMIM:601152
Menkes Disease	Short stature, Brachycephaly, Intrauterine growth retardation	OMIM:309400
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gingival overgrowth, Protruding tongue, Brachycephaly, 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	Spina bifida occulta, Scoliosis, Kyphosis	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
Radio-Tartaglia Syndrome	Gray matter heterotopia, Scoliosis, Agenesis of corpus callosum	OMIM:619312
Fragile X Syndrome	Periventricular heterotopia, Scoliosis	OMIM:300624
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Beck-Fahrner Syndrome	Brachycephaly, High palate, Open mouth, Long philtrum	OMIM:618798
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Rett Syndrome	Spasticity, Gait ataxia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis	OMIM:312750
Treacher-Collins Syndrome	Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ...	ORPHA:861
Houge-Janssens Syndrome 2	Tented upper lip vermilion, Plagiocephaly, Open mouth	OMIM:616362
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Umbilical hernia	OMIM:618272
Intellectual Developmental Disorder, Autosomal Dominant 1	Downturned corners of mouth, Widely spaced teeth, Frontal bossing, Postnatal growth retardation, ...	OMIM:156200
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Agenesis of permanent te...	OMIM:201000
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Pleural effusion, Pericardial effusion, High palate, Edema	OMIM:617822
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Lateral Meningocele Syndrome	Dural ectasia, Abnormal form of the vertebral bodies, Umbilical hernia, Syringomyelia, Short neck...	ORPHA:2789
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Spina bifida, Pach...	ORPHA:2671
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis	ORPHA:536516
Warburg Micro Syndrome 4	Long philtrum, Narrow mouth, Severe postnatal growth retardation, Brachycephaly, Short stature	OMIM:615663
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Apert Syndrome	Lambdoidal craniosynostosis, Bifid uvula, Coronal craniosynostosis, Dental malocclusion, Delayed ...	OMIM:101200
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Bickerstaff Brainstem Encephalitis	Facial paralysis, Tetraparesis, Babinski sign, Abnormal pyramidal sign, Tetraplegia, Ataxia, Resp...	ORPHA:79138
Desbuquois Dysplasia 1	Platyspondyly, Neonatal respiratory distress, Intrauterine growth retardation, Short neck, Hyperl...	OMIM:251450
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Scoliosis, Kyphosis	ORPHA:79107
Distal Deletion 10Q	Postnatal growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Craniosyn...	ORPHA:96148
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Loeys-Dietz Syndrome 5	Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat...	OMIM:615582
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Scaphocephaly, Growth delay, Cranial asymmetry	OMIM:614886
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal dental morphology, Cranial asymmetry, Short stature, Abnormality of dental color, Growth...	OMIM:163200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, Dolichocepha...	ORPHA:457279
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
2P15P16.1 Microdeletion Syndrome	Long philtrum, Intrauterine growth retardation, Narrow mouth, Smooth philtrum, Brachycephaly, Eve...	ORPHA:261349
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Neonatal inspiratory stridor, Kyphoscoliosis, Abnormal cur...	ORPHA:93360
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Tr...	OMIM:257300
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Brachycephaly, Thick vermilion border, Short stature, Short philtrum	OMIM:618885
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Abetalipoproteinemia	Gait ataxia, Dysmetria, Kyphoscoliosis, Babinski sign, Ataxia, Upper motor neuron dysfunction, Re...	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	Smooth philtrum, Brachycephaly	OMIM:618828
Angelman Syndrome	Widely spaced teeth, Protruding tongue, Brachycephaly, Macroglossia, Wide mouth, Flat occiput	OMIM:105830
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria	OMIM:619775
Asbestos Intoxication	Respiratory failure	ORPHA:2302
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra...	ORPHA:75857
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis, Ataxia	ORPHA:324737
Aicardi Syndrome	Block vertebrae, Lateral ventricle dilatation, Polymicrogyria, Gray matter heterotopia, Butterfly...	OMIM:304050
Duplication Of The Pituitary Gland	Volvulus, Brachyturricephaly, Wide mouth, Encephalocele, Polyhydramnios, Supernumerary tooth, Sho...	ORPHA:314621
Charcot-Marie-Tooth Disease Type 4C	Vocal cord paresis, Tongue fasciculations, Facial paralysis, Respiratory insufficiency, Frequent ...	ORPHA:99949
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96264
Periventricular Nodular Heterotopia	Periventricular heterotopia, Scoliosis	ORPHA:98892
Cockayne Syndrome Type 2	Intrauterine growth retardation, Lower limb spasticity, Limb hypertonia, Ataxia, Scoliosis, Kyphosis	ORPHA:90322
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Plagiocephaly, Downturned corners of mouth, Submucous cleft hard palate	OMIM:619680
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
White-Sutton Syndrome	Bifid uvula, Downturned corners of mouth, Intrauterine growth retardation, Short philtrum, Brachy...	OMIM:616364
Jaberi-Elahi Syndrome	Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Scoliosis, Kyphosis, Choreoathetosis	OMIM:617988
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Umbilical...	ORPHA:870
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Respiratory insufficiency, Death in infancy, Babinski sign, At...	OMIM:252010
Niemann-Pick Disease Type C	Cataplexy, Respiratory insufficiency, Speech apraxia, Chorea, Myoclonus, Intention tremor, Tremor...	ORPHA:646
Apert Syndrome	Bifid uvula, Delayed eruption of teeth, Brachyturricephaly, Ectopic anus, Cloverleaf skull, Esoph...	ORPHA:87
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Narrow mouth, Brachycephaly, High palate, Cleft palate	OMIM:156610
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe...	OMIM:616078
Radio-Renal Syndrome	Short neck, Respiratory failure, Abnormal form of the vertebral bodies	ORPHA:3015
Scedosporiosis	Respiratory failure	ORPHA:449280
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Gait ataxia, Kyphosis, Tremor	OMIM:300354
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Scoliosis, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Tremor, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron mor...	OMIM:614298
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, A...	ORPHA:2673
Pfeiffer Syndrome Type 1	Brachycephaly, High palate, Bicoronal synostosis	ORPHA:93258
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Delayed p...	OMIM:619718
Cerebrocostomandibular Syndrome	Hydranencephaly, Neonatal respiratory distress, Myelomeningocele, Intrauterine growth retardation...	ORPHA:1393
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Scoliosis	OMIM:203700
Encephalocraniocutaneous Lipomatosis	Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia	ORPHA:2396
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Scoliosis	ORPHA:2518
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, High palate, Umbilical hernia	ORPHA:324313
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis	OMIM:609128
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Oligodontia, Brachycephaly, Short stature, Wide mouth, Cleft palate	OMIM:201180
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia	ORPHA:79102
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia, Scoliosis, Kyphosis	ORPHA:261250
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Postnatal growth retardation, Brachycephaly, Short stature, Thin vermilion border	OMIM:614800
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Warburg Micro Syndrome 3	Postnatal growth retardation, Narrow palate, Brachycephaly, Downturned corners of mouth	OMIM:614222
Lig4 Syndrome	Thin vermilion border, Brachycephaly, Growth delay, Biparietal narrowing	ORPHA:99812
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:3219
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Alexander Disease	Spasticity, Respiratory insufficiency, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonu...	ORPHA:58
Robinow-Sorauf Syndrome	Craniosynostosis, Plagiocephaly, Pansynostosis	OMIM:180750
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Irregular dentition, Smooth philtrum, Short stature, Cleft palate	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Saethre-Chotzen Syndrome	Plagiocephaly, Open bite, Brachycephaly, Short stature, Craniosynostosis, Narrow palate, Cleft pa...	ORPHA:794
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Respiratory failure, Respiratory failure requiring assisted vent...	ORPHA:555874
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Mesomelic short stature, Dolichocephaly	ORPHA:2633
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Scoliosis, Periodic hypokalemic paresis	OMIM:170390
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Protruding tongue, Brachycephaly, Everted lower lip vermilion, Macro...	ORPHA:96147
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
7Q31 Microdeletion Syndrome	Plagiocephaly, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Wide...	ORPHA:251061
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly	OMIM:600430
Non-Functioning Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:94080
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96263
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Brachycephaly, Everted lower lip ve...	OMIM:610253
Uruguay Faciocardiomusculoskeletal Syndrome	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:300280
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Scoliosis, Vertebral segmentation defect	ORPHA:531151
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Dental crowding, Intrauterine growth retardation, Thick vermilion border, Dolichoc...	OMIM:619005
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Cleft soft palate	OMIM:606851
Cranioectodermal Dysplasia 2	Rhizomelia, Plagiocephaly, Widely spaced teeth, Frontal bossing, Microdontia, Fused teeth, Smooth...	OMIM:613610
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Large placenta, Respiratory failure, Umbilical hernia	ORPHA:254528
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Au-Kline Syndrome	Bifid uvula, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodo...	OMIM:616580
Contractural Arachnodactyly, Congenital	Scaphocephaly, Brachycephaly, Dolichocephaly, High palate, Frontal bossing	OMIM:121050
Hamamy Syndrome	Dental malocclusion, Long philtrum, Thin upper lip vermilion, Hypodontia, Smooth philtrum, Brachy...	OMIM:611174
Alagille Syndrome	Intrauterine growth retardation, Brachycephaly, Delayed puberty, Spina bifida occulta, Short phil...	ORPHA:52
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Developmental And Epileptic Encephalopathy 84	Smooth philtrum, Plagiocephaly, Thick lower lip vermilion	OMIM:618792
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Frontal bossing, Open bite, Brachycephaly, Deep philtrum, Everted lower lip vermil...	ORPHA:1974
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Listeriosis	Myoclonus, Tremor, Back pain, Hemiparesis, Ataxia, Respiratory failure, Miscarriage	ORPHA:533
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Atelosteogenesis Type Ii	Rhizomelia, Plagiocephaly, Long philtrum, Rhizomelic arm shortening, Bilateral cleft palate, Thin...	ORPHA:56304
Bifid Nose With Or Without Anorectal And Renal Anomalies	Anteriorly placed anus, Short lingual frenulum, Brachycephaly, Short philtrum, Rectovaginal fistu...	OMIM:608980
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Intercostal muscle weakness, Hyperlordosis, Respiratory insufficiency due to musc...	ORPHA:2020
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Long philtrum, Smooth philtrum, Brachycephaly, Short s...	OMIM:300968
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Myhre Syndrome	Platyspondyly, Respiratory insufficiency, Enlarged vertebral pedicles, Intrauterine growth retard...	OMIM:139210
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Death in early adulthood, Abnormality of neuronal migratio...	ORPHA:192
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of ...	OMIM:603546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Riddle Syndrome	Neonatal asphyxia, Poor hand-eye coordination, Clumsiness, Ataxia, Respiratory failure	ORPHA:420741
Anauxetic Dysplasia 3	Severe short stature, Plagiocephaly, Oligodontia	OMIM:618853
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Brachycephaly	OMIM:109120
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Fibrochondrogenesis	Short stature, Plagiocephaly, Narrow mouth, Cleft palate	ORPHA:2021
Acrodysostosis	Delayed eruption of teeth, Open bite, Open mouth, Brachycephaly, Short stature, Frontal bossing	ORPHA:950
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Aganglionic megacolon, Polyhydramnios, Short philtrum, Frontal bossing	OMIM:613603
Autosomal Recessive Spastic Paraplegia Type 35	Spastic paraplegia, Dysdiadochokinesis, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti...	ORPHA:171629
Doors Syndrome	Short lingual frenulum, Open mouth, High palate, Downturned corners of mouth, Sirenomelia, Thin u...	ORPHA:79500
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Shashi-Pena Syndrome	Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyp...	OMIM:617190
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Spasticity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Scoliosis, Kyphosis	OMIM:618443
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Respiratory insufficiency, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign,...	OMIM:617527
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Ascites, Gingival overgrowth, Micr...	OMIM:301072
Weill-Marchesani Syndrome 1	Tooth malposition, Abnormal dental morphology, Proportionate short stature, Brachycephaly, Short ...	OMIM:277600
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Growth delay, Intestinal malrotation, Brachycephaly, Wide mouth, Duodena...	OMIM:617798
Aymé-Gripp Syndrome	Plagiocephaly, Long philtrum, Postnatal growth retardation, Narrow mouth, Oligodontia, Thin upper...	ORPHA:1272
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Scoliosis, Respiratory failure	ORPHA:3342
Osteogenesis Imperfecta, Type Xi	Short stature, Dentinogenesis imperfecta, Brachycephaly	OMIM:610968
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly	OMIM:617730
Craniofrontonasal Syndrome	Abnormality of the dentition, Coronal craniosynostosis, Cleft upper lip, Umbilical hernia, Brachy...	OMIM:304110
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3121
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Kyphoscoliosis, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocep...	OMIM:618820
Gm1 Gangliosidosis	Platyspondyly, Spasticity, Abnormal form of the vertebral bodies, Tremor, Abnormality of extrapyr...	ORPHA:354
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Dental malocclusion, Delayed eruption of teeth, Intrau...	OMIM:101800
De Barsy Syndrome	Delayed eruption of teeth, Umbilical hernia, Postnatal growth retardation, Intrauterine growth re...	ORPHA:2962
Pelger-Huet Anomaly	Lower limb hypertonia, Kyphosis, Umbilical hernia	OMIM:169400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Respiratory failure, Lateral ventricle dilatation, Death in infancy	OMIM:300868
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory insufficiency, Myoclonus, Death in childhood, Tetraplegia, Respiratory failure	OMIM:618278
Fucosidosis	Spasticity, Spastic tetraplegia, Abnormal pyramidal sign, Anterior beaking of lumbar vertebrae, K...	ORPHA:349
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Microdontia, Br...	OMIM:618268
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Lip pit, Abnormal palate morphology, Hypodontia, Brachycephaly, Frontal bossing	ORPHA:1236
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Platyspondyly, Abnormal cortical gyration, Lateral ventricle dilatation, Respiratory insufficienc...	OMIM:210710
Martsolf Syndrome 1	Tooth malposition, Long philtrum, Short philtrum, Brachycephaly, Short stature, High palate	OMIM:212720
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Long philtrum, Postnatal growth retardation, Smooth philtrum, Short stature, High ...	OMIM:300749
Dihydropyrimidinase Deficiency	Anal atresia, Plagiocephaly, Growth delay	OMIM:222748
Turnpenny-Fry Syndrome	Abnormality of the dentition, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, De...	OMIM:618371
Bohring-Opitz Syndrome	Gray matter heterotopia, Neonatal respiratory distress, Agenesis of corpus callosum	OMIM:605039
Kleefstra Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Exaggerated c...	ORPHA:261494
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Cornelia De Lange Syndrome 1	High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil...	OMIM:122470
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Brachycephaly, Frontal bossing	OMIM:207410
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Thick lower lip vermilion, Narrow mouth, Short philtrum, Smooth philtrum, Brachy...	ORPHA:3063
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Holoprosencephaly	Spinal dysraphism, Abnormal form of the vertebral bodies, Respiratory insufficiency, Encephalocel...	ORPHA:2162
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Narrow mouth, Perineal fistula, High palate, Anal atresia, Rectovagi...	OMIM:218600
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Oculomotor apraxia, Ataxia, Respiratory failure	OMIM:615636
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp...	OMIM:108300
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Gray matter heterotopia, Pachygyria, Scoliosis, Subcortical ...	OMIM:601390
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Plagiocephaly, Long philtrum, Umbilical hernia, Dolichocephaly	ORPHA:1101
Carey-Fineman-Ziter Syndrome 1	Microglossia, Plagiocephaly, High palate, Glossoptosis, Growth delay, Cleft palate, Pierre-Robin ...	OMIM:254940
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long philtrum, Narrow mouth, Thin upper lip vermilion, Brachycephaly, Growth delay, Cleft palate	OMIM:601353
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98855
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hypertoni...	ORPHA:2072
3M Syndrome	Intrauterine growth retardation, Increased vertebral height, Short neck, Hyperlordosis, Scoliosis...	ORPHA:2616
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death	OMIM:615709
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Smooth philt...	OMIM:618548
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Plaa-Associated Neurodevelopmental Disorder	Respiratory insufficiency, Rigidity, Abnormality of extrapyramidal motor function, Progressive sp...	ORPHA:521426
White-Sutton Syndrome	Downturned corners of mouth, Open mouth, Narrow mouth, Thin upper lip vermilion, Short philtrum, ...	ORPHA:468678
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cleft lip, Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Umbilical hernia, Thick...	OMIM:280000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba...	ORPHA:508533
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos...	ORPHA:15
Schaaf-Yang Syndrome	Scoliosis, Kyphosis	OMIM:615547
Gapo Syndrome	High, narrow palate, Plagiocephaly, Eruption failure, Long philtrum, Umbilical hernia, Thick lowe...	OMIM:230740
Pearson Syndrome	Bone marrow hypocellularity, Pigmentary retinopathy, Exocrine pancreatic insufficiency, Pancytope...	ORPHA:699
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scoli...	ORPHA:365
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lateral ventricle dilatation, Polymicrogyria, Lumbar hyperlordosis, Kyphoscoliosis, Dysplastic co...	ORPHA:500150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Long philtrum, Narrow mouth, Microdontia, Brachycephaly, Short stature, Craniosynosto...	OMIM:245600
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:582
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Cleft upper lip, Postnatal growth retardation, Gingival overgrowth, Brachycephaly, Microdontia of...	OMIM:213980
Cole-Carpenter Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Spasticity, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Rigidity, Sho...	ORPHA:2636
Emanuel Syndrome	Intrauterine growth retardation, Torticollis, Scoliosis, Kyphosis, Sacral dimple	OMIM:609029
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Plagiocephaly, Growth delay, Widely spaced teeth	OMIM:617193
Frontofacionasal Dysplasia	Bifid uvula, Cranium bifidum occultum, Hypoplasia of the frontal bone, Cleft upper lip, Orofacial...	OMIM:229400
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, High palate, Short philtrum, Wide mouth	OMIM:620224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Gray ...	OMIM:615287
15Q24 Microdeletion Syndrome	Myelomeningocele, Scoliosis, Kyphosis	ORPHA:94065
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Kaufman Oculocerebrofacial Syndrome	Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Thin upper lip vermilion, Smooth p...	OMIM:244450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Brachycephaly,...	OMIM:263520
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Rett Syndrome, Congenital Variant	Spasticity, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis	OMIM:613454
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Frontal bossing, Prominent occiput, Biparietal narrowing, Growth delay	ORPHA:2612
Roberts Syndrome	Cleft upper lip, Postnatal growth retardation, Brachycephaly, Severe intrauterine growth retardat...	ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Weill-Marchesani Syndrome 2	Tooth malposition, Narrow palate, Umbilical hernia, Abnormal dental morphology, Proportionate sho...	OMIM:608328
Trisomy 13	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:3378
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory failure, Respiratory insufficiency	OMIM:610913
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Kyphoscoliosis, Hemivertebrae, Scoliosis, Respiratory failure, Lissencephaly, ...	ORPHA:96334
Alg11-Cdg	Gray matter heterotopia, Scoliosis	ORPHA:280071
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Kyphosis, Tremor	OMIM:617061
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Plagiocephaly, Thick lower lip vermilion, Persis...	ORPHA:2785
Harrod Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2115
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Spasticity, Intrauterine growth retardation, Tremor, Prominent protruding coccyx, Short neck, Pro...	OMIM:300966
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, High palate, Plagiocephaly, Flat occiput	ORPHA:300570
Cono-Spondylar Dysplasia	Short neck, Poor coordination, Scoliosis, Kyphosis	ORPHA:420794
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Long philtrum, Narrow mouth, Proportionate short stature, Macroglossia, High palat...	OMIM:613457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly, Vertebral segmentation defect	ORPHA:3186
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lobar holop...	ORPHA:468631
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Downturned corners of mouth, Widely spaced teeth, Thin upper lip vermilion, Brachycephaly, Short ...	OMIM:616728
Microphthalmia With Linear Skin Defects Syndrome	Respiratory failure, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Congenital Myopathy 13	Downturned corners of mouth, Brachycephaly, Short stature, High palate, Cleft palate	OMIM:255995
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Spondylolysis, Umbilical hernia, Respiratory insufficiency, Kyphoscoliosis, Short ...	OMIM:304120
Mosaic Trisomy 20	Spinal canal stenosis, Intrauterine growth retardation, Vertebral segmentation defect, Abnormal s...	ORPHA:1724
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C...	OMIM:619950
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth...	ORPHA:2108
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Plagiocephaly, Long philtrum, Postnatal growth retardat...	ORPHA:536467
Distal Renal Tubular Acidosis	Paralysis, Respiratory insufficiency due to muscle weakness	ORPHA:18
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:958
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Micro Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis, Spasticity	ORPHA:2510
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
African Trypanosomiasis	Involuntary movements, Myelitis, Myelopathy, Fasciculations, Abnormal central motor function, Tre...	ORPHA:3385
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Tooth malposition, Brachycephaly	OMIM:156400
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Proportionate short stature, Brachycephaly, Deep philtrum, High palate, Narr...	OMIM:227330
Pycnodysostosis	Spondylolysis, Intrauterine growth retardation, Spondylolisthesis, Hyperlordosis, Upper motor neu...	ORPHA:763
Ring Chromosome 7 Syndrome	Bifid uvula, Plagiocephaly, Narrow mouth, Median cleft palate, Brachycephaly, Severe intrauterine...	ORPHA:1449
7Q11.23 Microduplication Syndrome	Dental malocclusion, Diastema, Short lingual frenulum, Thin upper lip vermilion, Short philtrum, ...	ORPHA:96121
Alg9-Cdg	Bifid uvula, Rhizomelia, Long philtrum, Frontal bossing, Oligohydramnios, Villous atrophy, Thin u...	ORPHA:79328
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Brachycephaly, Frontal bossing, Umbilical hernia	OMIM:618188
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intrauterine growth retardation, Scoliosis, Respiratory failure, Respiratory insufficiency	OMIM:613658
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Vocal cord paralysis	ORPHA:221098
Ayme-Gripp Syndrome	Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Narrow mouth, Thin upper lip...	OMIM:601088
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Brachycephaly, Short stature, Narrow palate, Cleft palate	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	Fetal ascites, Plagiocephaly, Intrauterine growth retardation, Thin upper lip vermilion, Delayed ...	OMIM:619376
Distal Triplication 15Q	Syringomyelia, Intrauterine growth retardation, 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	High, narrow palate, Coronal craniosynostosis, Long philtrum, Umbilical hernia, Anteriorly placed...	OMIM:612289
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Decreased calvarial ossification, Brachycephaly, Ana...	OMIM:617925
Chime Syndrome	Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hypodontia, Brachycephaly,...	ORPHA:3474
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Brachycephaly, Delayed puberty, Mild postnatal growth retardation	ORPHA:456312
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Growth delay, Everted lower lip vermilion	OMIM:615471
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Tented philtrum, Esophagitis, Narrow mouth, Brachycephaly, Thin vermilion border	ORPHA:495818
Hoxha-Aliu Syndrome	Brachycephaly, High palate	OMIM:620662
Joubert Syndrome 1	Plagiocephaly, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue, Macro...	OMIM:213300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Short lingual frenulum, Craniosynostosis, High palate, Wide mouth	ORPHA:1521
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Campomelic Dysplasia	Respiratory insufficiency, Short neck, Poorly ossified cervical vertebrae, Scoliosis, Kyphosis	ORPHA:140
Geleophysic Dysplasia 3	Respiratory failure	OMIM:617809
Fraser Syndrome 2	Short neck, Respiratory failure	OMIM:617666
Adnp Syndrome	Plagiocephaly, Thick lower lip vermilion, Umbilical hernia, Trigonocephaly, Thin upper lip vermil...	ORPHA:404448
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Pagod Syndrome	Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele	ORPHA:991
Congenital Disorder Of Glycosylation, Type Ia	Kyphosis, Death in childhood, Tremor, Dysmetria, Death in infancy, Ataxia, Intention tremor	OMIM:212065
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Plagiocephaly, Narrow mouth, Exaggerated cupid's bow, Spina bifida, Thick vermilion ...	OMIM:619480
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ...	OMIM:211380
Frank-Ter Haar Syndrome	Dental malocclusion, Wide mouth, Gingival overgrowth, Thin upper lip vermilion, Brachycephaly, Hi...	OMIM:249420
Orofaciodigital Syndrome Iii	Myoclonus, Kyphosis	OMIM:258850
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Anal stenosis, Aganglionic megac...	OMIM:250250
Peters Plus Syndrome	Rhizomelia, Disproportionate short-limb short stature, Long philtrum, Umbilical hernia, Intestina...	ORPHA:709
Acromelic Frontonasal Dysostosis	Parietal foramina, Cleft upper lip, Encephalocele, Submucous cleft soft palate, Brachycephaly, Mi...	OMIM:603671
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Microdontia	OMIM:261990
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:311200
Mucopolysaccharidosis, Type Ii	Cervical cord compression, Short neck, Kyphosis, Umbilical hernia	OMIM:309900
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Frontal bossing, Median cleft upper lip, Smooth...	ORPHA:96149
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Bloom Syndrome	Intrauterine growth retardation, Respiratory failure	ORPHA:125
Coffin-Siris Syndrome 1	Postnatal growth retardation, High palate, Duodenal ulcer, Gastric ulcer, Plagiocephaly, Thin upp...	OMIM:135900
Alg12-Cdg	Posterior plagiocephaly, Intestinal malrotation, Intrauterine growth retardation, Thin upper lip ...	ORPHA:79324
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Brachycephaly, Plagiocephaly	ORPHA:500055
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:2075
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Respiratory failure	ORPHA:647
Monosomy 9P	Abnormality of the dentition, Long philtrum, Trigonocephaly, Calvarial skull defect, Narrow mouth...	ORPHA:261112
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Neonatal respiratory distress, Death in childhood, Polymicrogyria	OMIM:214100
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Tented upper lip vermilion, Exag...	ORPHA:369837
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis, Ataxia	ORPHA:2479
Schwartz-Jampel Syndrome	Platyspondyly, Blepharospasm, Umbilical hernia, Respiratory insufficiency, Death in infancy, Abno...	ORPHA:800
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Long philtrum, Frontal bossing, Intrauterine growth retardation, Brachycephaly, ...	OMIM:617157
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Brachycephaly, High palate, ...	OMIM:619512
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Pachygyria, Gray matter heterotopia, Frontal polymicrogyria, Neonatal death	OMIM:620024
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Plagiocephaly, Frontal bossing, Intestinal malrotation, Esophagitis, Perineal fistu...	ORPHA:2538
Atelis Syndrome 2	Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system	OMIM:620185
Kbg Syndrome	Long philtrum, Macrodontia, Tented upper lip vermilion, Oligodontia, Brachycephaly, Short stature...	OMIM:148050
X-Linked Intellectual Disability, Cabezas Type	Short neck, Scoliosis, Kyphosis, Tremor	ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Long philtrum, Thick lower lip vermilion, Trigonocephaly, Narrow mouth, Oligodontia, Thin upper l...	OMIM:309590
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Umbilical hernia	OMIM:607015
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Scoliosis, Subcortical band heterot...	OMIM:615546
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Plagiocephaly, Widely spaced teeth, Frontal bossing, Ankyloglossia, Intr...	OMIM:619841
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Scoliosis, Kyphosis	OMIM:616449
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth, Gray matter heterotopia, Ane...	OMIM:236680
Costello Syndrome	Respiratory failure, Hydrocephalus, Respiratory insufficiency	OMIM:218040
Cowden Syndrome 5	Scoliosis, Kyphosis, Intention tremor	OMIM:615108
Koolen-De Vries Syndrome	Gray matter heterotopia, Vertebral fusion, Scoliosis, Kyphosis	OMIM:610443
Van Esch-O'Driscoll Syndrome	Spasticity, Unilateral vocal cord paralysis, Intrauterine growth retardation, Spina bifida occult...	OMIM:301030
Tuberous Sclerosis Complex	Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Umbilical hernia, Death in childhoo...	OMIM:602535
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tented upper lip vermilion, Brachycephaly, Short philtrum, Delayed eruption of permanent teeth	ORPHA:521445
Arboleda-Tham Syndrome	Plagiocephaly, Downturned corners of mouth, Frontal bossing, Peg-shaped maxillary lateral incisor...	OMIM:616268
Weaver Syndrome	Spasticity, Umbilical hernia, Hypertonia, Scoliosis, Kyphosis, Poor fine motor coordination, Slur...	OMIM:277590
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Gingival overgrowth, Brachycephaly, Short stature, Frontal bossing	OMIM:259600
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly	OMIM:614225
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Umbilical hernia, Kyphoscoliosis, Hemivertebrae, Scoliosis, Kyphosis	OMIM:301040
Aicardi Syndrome	Plagiocephaly, Cleft upper lip, Intestinal polyposis, Hiatus hernia, Delayed puberty, Short philt...	ORPHA:50
Noonan Syndrome With Multiple Lentigines	Intrauterine growth retardation, Brachycephaly, Short stature, Spina bifida occulta, Growth delay	ORPHA:500
X-Linked Intellectual Disability, Armfield Type	Downturned corners of mouth, Brachycephaly, Short stature, Short philtrum, Wide mouth, Cleft palate	ORPHA:85276
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Carious teeth, Long philtrum, Widely spaced teeth, ...	OMIM:615873
Gorlin Syndrome	Carious teeth, Brachycephaly, Orofacial cleft, Odontogenic keratocysts of the jaw, Frontal bossing	ORPHA:377
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Mandibuloacral Dysplasia Progeroid Syndrome	Long philtrum, Postnatal growth retardation, Narrow mouth, Short philtrum, Hypodontia, Brachyceph...	OMIM:619127
Cowden Syndrome 6	Scoliosis, Kyphosis, Intention tremor	OMIM:615109
Alpha-Mannosidosis, Infantile Form	Cranial hyperostosis, Widely spaced teeth, Umbilical hernia, Thickened calvaria, Brachycephaly, M...	ORPHA:309282
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Postnatal growth retardation, Thin upper lip vermilion, Brachycephaly, Delayed puberty, Short sta...	OMIM:616263
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Dental crowding, Open bite, Short stature, High palate	OMIM:620083
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Scoliosis, Kyphosis, Tremor	ORPHA:476126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:276621
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth	OMIM:620099
Koolen-De Vries Syndrome	Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:96169
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Mucopolysaccharidosis Type 6	Short neck, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Anterior clefting of vertebral bodies, Umbilical hernia, Short nec...	OMIM:265000
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Steinert Myotonic Dystrophy	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:273
Ear-Patella-Short Stature Syndrome	Intrauterine growth retardation, Respiratory failure	ORPHA:2554
Cartilage-Hair Hypoplasia	Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Gingival overgrowth, Ab...	ORPHA:175
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Brachycephaly, Ever...	ORPHA:1519
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Dysmetria, Head titubation, Ataxia, Intention tremor	OMIM:619708
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid cerebral palsy	OMIM:617799
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Dural ectasia, Kyphosis	OMIM:616914
Hemorrhagic Fever-Renal Syndrome	Respiratory failure, Back pain	ORPHA:340
Codas Syndrome	Vocal cord paresis, Hypoplasia of the odontoid process, Lumbar scoliosis, Coronal cleft vertebrae...	OMIM:600373
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Thin upper lip vermilion, ...	OMIM:601776
Hurler Syndrome	Hypoplasia of the odontoid process, Umbilical hernia, Biconcave vertebral bodies, Short neck, C1-...	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	High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Long philtrum, Umbilical ...	OMIM:614976
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Plagiocephaly, Dental crowding, Widely spaced teeth, Frontal bossing, Open m...	ORPHA:466791
Lig4 Syndrome	Brachycephaly	OMIM:606593
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	OMIM:617602
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Aplasia of the epiglottis, ...	OMIM:615948
Shprintzen Omphalocele Syndrome	Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Posterior plagiocephaly, Long philtrum, Umbilical hernia, Scaphocephaly, Thin upper ...	OMIM:620330
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Edema of the dorsum of hands, Brachycephaly, Spina bifida, Edema of the dors...	OMIM:274000
Cornelia De Lange Syndrome	Downturned corners of mouth, Long philtrum, Widely spaced teeth, Intestinal malrotation, Delayed ...	ORPHA:199
Renpenning Syndrome 1	Macrodontia, Narrow mouth, Thin upper lip vermilion, Short philtrum, Brachycephaly, Anal atresia,...	OMIM:309500
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Abnormal form of the vertebral bodies, Umbilical hernia, Abnormal...	ORPHA:581
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Ple...	OMIM:265380
Pulmonary Alveolar Microlithiasis	Respiratory failure, Respiratory insufficiency	ORPHA:60025
Hunter-Macdonald Syndrome	Umbilical hernia, Thin upper lip vermilion, Brachycephaly, Short stature, Short philtrum	OMIM:611962
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord...	OMIM:618019
Cowden Syndrome 1	Scoliosis, Kyphosis, Intention tremor	OMIM:158350
Spondyloenchondrodysplasia	Platyspondyly, Spasticity, Chorea, Kyphosis	ORPHA:1855
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Mucolipidosis Iii Alpha/Beta	Kyphosis, Scoliosis, Spondylolisthesis	OMIM:252600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Vertebral segmentation defect, Scoliosis, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Vertebral segmentation defect, Scoliosis, Agenesis of corpus callosum	ORPHA:352665
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Scoliosis, Kyphosis	ORPHA:464311
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Tethered cord, Abnormality of the vertebral column, Abnormal form ...	ORPHA:280
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies	OMIM:219090
Duane Retraction Syndrome	Spina bifida occulta, Plagiocephaly, Everted lower lip vermilion, Cleft palate	ORPHA:233
Gitelman Syndrome	Paralysis	ORPHA:358
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Plagiocephaly, Short uvula, Ankyloglossia, Intrauterine growth retardation, ...	OMIM:619475
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
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, Long philtrum, Intrauterine growth retardation, Protruding tongue, Jejunal atresia...	OMIM:619488
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Kyphosis	OMIM:618493
Cleidocranial Dysplasia 1	Neonatal respiratory distress, Spondylolysis, Spondylolisthesis, Syringomyelia, Scoliosis, Kyphosis	OMIM:119600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Anteriorly placed anus, Narrow mouth, Turricephaly, Brachycephaly, Delayed p...	ORPHA:95699
Hereditary Pheochromocytoma-Paraganglioma	Vocal cord paralysis, Tremor	ORPHA:29072
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Long philtrum, Widely spaced teeth, Thick lower lip vermilion, Prominent occiput, Mi...	OMIM:612474
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Frontal bossing, Intraute...	ORPHA:3455
Schinzel-Giedion Syndrome	Spasticity, Umbilical hernia, Kyphoscoliosis, Short neck, Vocal cord paralysis, Hypertonia, Sacro...	ORPHA:798
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Prader-Willi Syndrome	Intrauterine growth retardation, Scoliosis, Poor gross motor coordination, Kyphosis, Poor fine mo...	OMIM:176270
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Rhizomelia, Carious teeth, Abnormality of the dentition, Dental malocc...	ORPHA:666
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Cohen Syndrome	Intrauterine growth retardation, Scoliosis, Kyphosis	ORPHA:193
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre...	OMIM:259770
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Scoliosis, Kyphosis	ORPHA:464738
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Short statur...	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	Umbilical hernia, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Sacral dimple	ORPHA:536532
Pierson Syndrome	Retinal hemorrhage, Posterior lenticonus, Retinal detachment, Remnants of the hyaloid vascular sy...	OMIM:609049
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
2Q31.1 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:251014
Viss Syndrome	High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Umbilical hernia, Intestinal malro...	OMIM:619472
Ulbright-Hodes Syndrome	Short neck, Respiratory failure, Severe intrauterine growth retardation, Ovoid thoracolumbar vert...	ORPHA:3404
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Frontal b...	OMIM:619503
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 73	Spasticity, Lumbar hyperlordosis, Apraxia, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyp...	OMIM:620450
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia	OMIM:620654
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Hajdu-Cheney Syndrome	Hypoplastic 5th lumbar vertebrae, Umbilical hernia, Biconcave vertebral bodies, Syringomyelia, Sh...	ORPHA:955
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Gait ataxia, Scoliosis, Hyperlordosis	OMIM:617011
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormality of the dentition, Tooth malposition, Long philtrum, Gingival overgrowth, Thick vermil...	ORPHA:480880
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory failure	ORPHA:79404
Autosomal Recessive Robinow Syndrome	Umbilical hernia, Death in infancy, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosi...	ORPHA:1507
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, Hyperlordosis, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesis, Hyperlordosis, ...	ORPHA:363958
Cockayne Syndrome	Spasticity, Action tremor, Intention tremor, Progressive gait ataxia, Neurogenic bladder, Limb hy...	ORPHA:191
14Q22Q23 Microdeletion Syndrome	Short stature, Brachycephaly, Downturned corners of mouth	ORPHA:264200
Down Syndrome	Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Brachycephaly, Short stature, Macrog...	OMIM:190685
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ...	ORPHA:98889
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Downturned corners of mouth, Long philtrum, Delayed eruption of teeth, Intrauterine ...	OMIM:264090
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Esophageal Atresia	Abnormal vertebral morphology, Vocal cord paresis, Scoliosis, Hypertonia	ORPHA:1199
Cockayne Syndrome Type 3	Neurogenic bladder, Scoliosis, Kyphosis, Intention tremor	ORPHA:90324
Nocardiosis	Respiratory failure	ORPHA:31204
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Death in infancy, Colpocephaly, Hydrocephalus, Partial agenesis of t...	OMIM:270400
Common Variable Immunodeficiency	Brachycephaly, Anal atresia, Gastrointestinal stroma tumor	ORPHA:1572
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Monosomy 9Q22.3	Short neck, Abnormality of the vertebral column, Kyphosis, Umbilical hernia	ORPHA:77301
Robinow Syndrome, Autosomal Dominant 3	Short neck, Scoliosis, Kyphosis, Sacral dimple	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	Unilateral vocal cord paralysis, Intrauterine growth retardation	ORPHA:324540
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Intellectual Developmental Disorder, X-Linked 112	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Scoliosis, Kyphosis, Hypertonia	OMIM:619194
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Kyphosis	ORPHA:398069
Cockayne Syndrome B	Intrauterine growth retardation, Death in childhood, Tremor, Ataxia, Kyphosis	OMIM:133540
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K...	OMIM:143095
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Kyphosis, Hemiplegia/hemiparesis	ORPHA:394
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Tremor, Kyphoscoliosis, Ataxia, Scoliosis, Kyphosis	OMIM:300967
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Respiratory insufficiency, Umbilical hernia, Death in infancy, Clonus, Scoliosis, ...	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	Abnormality of the cervical spine, Intrauterine growth retardation, Scoliosis, 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	Bifid uvula, Cleft upper lip, Long philtrum, Frontal bossing, Submucous cleft hard palate, Orofac...	OMIM:607872
Genitopatellar Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly, Pachygyria, Scoliosis	OMIM:606170
Poland Syndrome	Encephalocele, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Sc...	ORPHA:2911
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Brachycephaly, Thick vermilion border, Thick lower lip vermilion	OMIM:610442
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Bifid uvula, Microglossia, Plagiocephaly, Brachycephaly, High palate...	OMIM:607932
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis	ORPHA:1969
Smith-Lemli-Opitz Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Short neck, Hypertonia, S...	ORPHA:818
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Open mouth	ORPHA:457284
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Gait ataxia, Kyphosis, Kyphoscoliosis	ORPHA:457359
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Marden-Walker Syndrome	Kyphosis, Intrauterine growth retardation, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
1P36 Deletion Syndrome	Long philtrum, Narrow mouth, Abnormal intestine morphology, Brachycephaly, Abnormality of the anu...	ORPHA:1606
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Plagiocephaly, Abnormal palate morphology	ORPHA:3042
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Intrauterine growth retardation, Hypertonia, Ataxia, Scoliosis, Kyphosis, Sacral dimple	ORPHA:268261
Camurati-Engelmann Disease	Abnormality of the vertebral column, Hyperlordosis, Ataxia, Scoliosis, Kyphosis	ORPHA:1328
Zttk Syndrome	Spasticity, Intrauterine growth retardation, Hemivertebrae, Scoliosis, Kyphosis	OMIM:617140
Acrofacial Dysostosis, Cincinnati Type	Abnormality of coordination, Intrauterine growth retardation, Myoclonus, Syringomyelia, Lower lim...	OMIM:616462
Aspartylglucosaminuria	Thick lower lip vermilion, Thickened calvaria, Brachycephaly, Short stature, Macroglossia, Wide m...	OMIM:208400
Roberts-Sc Phocomelia Syndrome	Cleft upper lip, Postnatal growth retardation, Brachycephaly, Frontal encephalocele, Severe intra...	OMIM:268300
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Narrow mouth, Sagittal craniosynostosis, Short stature, Short philtrum	OMIM:620455
Cockayne Syndrome A	Intrauterine growth retardation, Kyphosis, Tremor, Ataxia	OMIM:216400
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Periventricular heterotopia, Aplasia of the epiglottis	ORPHA:434179
Microphthalmia, Syndromic 2	Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system	OMIM:300166
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Plagiocephaly, Skull asymmetry, Chronic gastritis, Prominent palatine ridges, Mild...	OMIM:150230
Mend Syndrome	Hypertonia, Kyphosis, Sacral dimple	OMIM:300960
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Mend Syndrome	Limb hypertonia, Kyphosis, Sacral dimple	ORPHA:401973
Liver Disease, Severe Congenital	Protein-losing enteropathy, Plagiocephaly, Umbilical hernia, Ascites, Chronic gastritis, Intraute...	OMIM:619991
Williams Syndrome	Spasticity, Involuntary movements, Abnormal form of the vertebral bodies, Umbilical hernia, Death...	ORPHA:904
Wolf-Hirschhorn Syndrome	Tethered cord, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral ...	OMIM:194190
Marfan Syndrome	Dural ectasia, Spondylolisthesis, Meningocele, Scoliosis, Kyphosis	ORPHA:558
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Spondylolisthesis, H...	ORPHA:828
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Aicardi-Goutières Syndrome	Short stature, Plagiocephaly	ORPHA:51
Neuroocular Syndrome 1	Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:619539
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, Kyphosis, Ataxia	ORPHA:201
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
17Q11 Microdeletion Syndrome	Dural ectasia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal ...	ORPHA:97685
Ramon Syndrome	Scoliosis, Kyphosis	OMIM:266270
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Williams-Beuren Syndrome	Umbilical hernia, Incoordination, Intrauterine growth retardation, Kyphoscoliosis, Vocal cord par...	OMIM:194050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Anteriorly placed anus, Oligohydramnios, Brachycephaly, Craniosynostosis, Frontal bossing, Clover...	OMIM:201750
Lenz-Majewski Hyperostotic Dwarfism	Scoliosis, Kyphosis	ORPHA:2658
Primrose Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Narrow mouth, Torus palatinus, Brachyceph...	OMIM:259050
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Short stature, Postnatal growth retardation, Plagiocephaly	OMIM:613355
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Acromegaly	Spinal canal stenosis, Kyphosis, Cerebral palsy	ORPHA:963
Somatomammotropinoma	Spinal canal stenosis, Kyphosis, Cerebral palsy	ORPHA:314769
Norrie Disease	Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:649
Proteus Syndrome	Abnormal form of the vertebral bodies, Gray matter heterotopia, Scoliosis, Kyphosis	ORPHA:744
Neurofibromatosis Type 1	Scoliosis, Kyphosis, Ataxia	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	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Coffin-Lowry Syndrome	Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Platyspondyly, Kyphosis	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	Lateral ventricle dilatation, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus cal...	ORPHA:261537
Sotos Syndrome	Abnormal vertebral morphology, Umbilical hernia, Tremor, Poor coordination, Scoliosis, Kyphosis, ...	ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Lateral ventricle dilatation, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus cal...	ORPHA:261552
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Short neck, Hyperlordosis, Kyphosis	OMIM:113620
Yunis-Varon Syndrome	Intrauterine growth retardation, Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340
Alström Syndrome	Incoordination, Thoracic scoliosis, Lumbar scoliosis, Ataxia, Kyphosis, Poor fine motor coordination	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

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Top2b mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data