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Gene: Atxn1l MGI:3694797

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ataxin 1-like

Synonyms:

C330011L24Rik, ENSMUSG00000069895, D8Ertd587e, Boat

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Atxn1l 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 Atxn1l (0 diseases)
Human diseases predicted to be associated with Atxn1l (1611 diseases)

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

The table below shows human diseases predicted to be associated to Atxn1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus, Omphalocele	OMIM:258320
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Failure to thrive	ORPHA:26
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Acalvaria	Hydrocephalus, Omphalocele, Abnormal lung lobation	ORPHA:945
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Omphalocele	Omphalocele	ORPHA:660
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis	OMIM:236660
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Alexander Disease Type I	Cachexia, Scoliosis, Hydrocephalus, Failure to thrive	ORPHA:363717
Fetal Encasement Syndrome	Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Lethargy	OMIM:613710
Simpson-Golabi-Behmel Syndrome, Type 2	Ventriculomegaly, Recurrent upper respiratory tract infections, Inguinal hernia, Recurrent lower ...	OMIM:300209
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	ORPHA:2141
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal vertebral morphology, Ventriculomegaly, Hydrocephalus	OMIM:618709
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy, Hypoglycorrhachia	OMIM:606777
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Lethargy, Small for gestational age, Neonatal death	OMIM:610498
Atypical Teratoid Rhabdoid Tumor	Apathy, Hydrocephalus	ORPHA:99966
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis, Agenesis of corpus callosum	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Increased CSF lactate, Cachexia, Weight loss, Failure to thrive	OMIM:612075
Central Neurocytoma	Lethargy, Depression, Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the abdominal wall m...	ORPHA:1263
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Hyperlordosis, Spinal rigidity	ORPHA:157973
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Mulibrey Nanism	Cachexia	ORPHA:2576
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age	OMIM:617065
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Perching Syndrome	Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary fibr...	ORPHA:2032
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Kyphosis, Hyperlordosis	OMIM:303350
Mcdonough Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:2471
Central Diabetes Insipidus	Lethargy, Depression, Weight loss, Failure to thrive	ORPHA:178029
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty...	OMIM:263000
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Failure to thrive	OMIM:274270
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Spinocerebellar Ataxia 48	Cachexia, Depression	OMIM:618093
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	OMIM:601163
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Depression, Obesity, Bipolar affective disorder, Scoliosis, Kyphosis	ORPHA:276630
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Cyanosis, Respiratory tract infection, Pulmonary edema, Hypoxemia	ORPHA:70587
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Ventriculomegaly, Umbilical hernia, Inguinal hernia, Agenesis of c...	OMIM:175700
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Moynahan Syndrome	Cachexia	ORPHA:2574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF valine concentration, Lethargy, Increased CSF isoleucine concentration, Increased C...	OMIM:246900
Huntington Disease-Like 2	Depression, Apathy, Weight loss, Inertia, Bradykinesia	OMIM:606438
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Failure to thrive	ORPHA:26792
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In...	OMIM:610913
Idiopathic Intracranial Hypertension	Lethargy, Depression, Obesity, Back pain	ORPHA:238624
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Pulmonary Blastoma	Weight loss	ORPHA:64741
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ventriculomegaly, Lethargy, Failure to thrive	OMIM:618228
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Lethargy, Abnormality of the vertebral column, Failure to thrive	OMIM:250620
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Failure to thrive	ORPHA:28
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Omphalocele, Pulmonary hypoplasia	ORPHA:3035
Glutaric Acidemia Type 3	Lethargy, Failure to thrive, Sacral dimple	ORPHA:35706
Miller-Dieker Syndrome	Omphalocele	ORPHA:531
Flynn-Aird Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Neonatal death	OMIM:614870
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration	ORPHA:70589
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis	ORPHA:85288
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy, Hypoglycorrhachia	ORPHA:71277
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Ventriculomegaly, Lethargy, Small for gestational age	OMIM:312170
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi...	ORPHA:79127
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Hypercalcemia, Infantile, 1	Lethargy, Weight loss, Failure to thrive	OMIM:143880
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Kyphosis, Failure to thrive	ORPHA:319199
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Agenesis of corpus callosum	ORPHA:93267
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Short neck, Cachexia, Scoliosis	OMIM:616801
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Pontocerebellar Hypoplasia, Type 6	Increased CSF lactate, Lethargy, Failure to thrive	OMIM:611523
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Flexion contracture, Pulmon...	OMIM:263210
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Christianson Syndrome	Ventriculomegaly, Cachexia	ORPHA:85278
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus, Omphalocele, Pulmonary hypoplasia	OMIM:313850
Fried Syndrome	Scoliosis, Hydrocephalus	ORPHA:85335
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Delayed vertebral ossification, Butterfly vertebrae, Kyphoscoliosis, S...	OMIM:613330
Developmental And Epileptic Encephalopathy 36	Scoliosis, Hydrocephalus	OMIM:300884
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased CSF lactate, Lethargy, Failure to thrive	OMIM:618226
Breath-Holding Spells	Cyanosis	OMIM:607578
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased CSF lactate, Lethargy	OMIM:618225
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Scoliosis, Kyphosis	ORPHA:702
Birt-Hogg-Dubé Syndrome	Emphysema, Multiple lipomas, Pneumothorax, Pulmonary sequestration	ORPHA:122
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Failure to thrive	OMIM:613561
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Kyphosis, Decreased body weight	OMIM:618392
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia, Decreased CSF homovanillic acid concentration	ORPHA:101150
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ventriculomegaly, Cachexia	ORPHA:1933
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Distal Duplication 15Q	Omphalocele, Camptodactyly of finger	ORPHA:1707
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Severe Canavan Disease	Lethargy	ORPHA:314911
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Pulmonary fibrosis, Abnormal pulmonary interstitial mo...	OMIM:612387
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Lethargy	ORPHA:276608
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Omphalocele, Pulmonary hypoplasia	OMIM:618316
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Hydrocephalus	OMIM:614120
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Failure to thrive, Lethargy, Hydrocephalus, Scoliosis	ORPHA:2169
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Cachexia	ORPHA:42
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocephalus, Stillbirth, Aq...	OMIM:276950
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Lateral ventricle dilatation, Joint contracture	OMIM:618266
C1Q Deficiency 2	Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection...	OMIM:620321
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Trigonocephaly 1	Omphalocele	OMIM:190440
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Scoliosis, Kyphosis, Obesity	OMIM:616756
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in...	ORPHA:2635
Alexander Disease	Increased CSF protein concentration, Apathy, Hydrocephalus	OMIM:203450
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Kyphoscoliosis	OMIM:300886
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Increased CSF lactate, Neonatal death, Lethargy, Increased CSF glycine concent...	OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Neonatal death	OMIM:618237
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Ring Chromosome 10 Syndrome	Short neck, Cachexia	ORPHA:1438
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Failure to thrive	OMIM:236270
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Lethargy	OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Neonatal death	OMIM:618232
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Lateral ventricle dilatation, Knee flexion contracture, Cyanotic episo...	ORPHA:284417
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive	OMIM:620007
Trisomy 1Q	Ventriculomegaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Agenesis of corpus ca...	ORPHA:261344
Mitochondrial Neurogastrointestinal Encephalomyopathy	Increased CSF protein concentration, Cachexia, Weight loss	ORPHA:298
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Short neck, Cachexia, Scoliosis	ORPHA:371364
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Sandhoff Disease	Kyphosis, Failure to thrive	ORPHA:796
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Juvenile Huntington Disease	Ventriculomegaly, Bradykinesia, Depression, Weight loss	ORPHA:248111
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Decreased response to g...	OMIM:610978
Tetrasomy 12P	Short neck, Cachexia	ORPHA:884
Glutamine Deficiency, Congenital	Erythema, Lateral ventricle dilatation, Recurrent respiratory infections, Neonatal death, Camptod...	OMIM:610015
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Idiopathic Achalasia	Weight loss	ORPHA:930
Kagami-Ogata Syndrome	Diastasis recti, Inguinal hernia, Omphalocele, Flexion contracture, Pulmonary hypoplasia	OMIM:608149
Riboflavin Deficiency	Lethargy	OMIM:615026
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Pulmonary hypoplasia	OMIM:617895
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Large for gestational age, Small for gestational age	ORPHA:324575
Perry Syndrome	Apathy, Depression, Weight loss	ORPHA:178509
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Cyanosis	ORPHA:2414
Developmental And Epileptic Encephalopathy 41	Lethargy, Kyphoscoliosis	OMIM:617105
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Cyanosis, Hemothor...	ORPHA:199241
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis	ORPHA:330012
Renpenning Syndrome	Cachexia	ORPHA:3242
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short neck, Obesity, Hydrocephalus	ORPHA:2183
Rett Syndrome	Cachexia, Scoliosis, Kyphosis	OMIM:312750
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H...	ORPHA:2257
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Schisis Association	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63862
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Mosaic Trisomy 1	Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexion contracture, Congenital diap...	ORPHA:1692
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Death in childhood, Death in infancy, Enamel hypoplasia...	OMIM:243150
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2181
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Aredyld Syndrome	Cachexia, Scoliosis	ORPHA:1133
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Neonatal death	OMIM:618186
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis, Kyphosis	OMIM:301900
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis, Camptodactyly of finger	ORPHA:896
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Prune belly, Omphalocele	OMIM:601389
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Omphalocele	ORPHA:2736
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Pentalogy Of Cantrell	Hydrocephalus, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia	ORPHA:1335
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Large for gestational age	ORPHA:276556
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis	ORPHA:747
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis, Neonatal death	OMIM:618393
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Failure to thrive	ORPHA:2394
Hyperphenylalaninemia, Bh4-Deficient, B	Increased CSF phenylalanine concentration, Lethargy	OMIM:233910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Failure to thrive	ORPHA:79312
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Short-Rib Thoracic Dysplasia 12	Atelectasis, Inguinal hernia, Neonatal death, Hydrocephalus, Omphalocele, Pulmonary hypoplasia	OMIM:269860
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer...	ORPHA:254361
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Omphalocele, Umbilical hernia	ORPHA:254534
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Focal Dermal Hypoplasia	Erythema, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis...	ORPHA:2092
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Colonic Atresia	Gastroschisis, Omphalocele	ORPHA:1198
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Temple Syndrome	Obesity, Small for gestational age, Scoliosis, Hydrocephalus	ORPHA:254516
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive	ORPHA:2089
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Large for gestational age	ORPHA:276575
Winchester Syndrome	Kyphosis	OMIM:277950
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Increased CSF lactate, Lethargy, Failure to thrive	OMIM:615838
Meckel Syndrome, Type 2	Dandy-Walker malformation, Omphalocele	OMIM:603194
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Large for gestational age	ORPHA:276580
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Pleural effusion, Hypersensitivity pneumonitis, Hyp...	ORPHA:2902
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Death in childhood, Death in infancy, Death in adolescen...	OMIM:618042
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hydrocephalus	OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Depression, Hydrocephalus	OMIM:248000
Fryns Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Omphalocele, Dand...	ORPHA:2059
Caudal Duplication	Omphalocele	ORPHA:1756
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Cryptogenic Organizing Pneumonia	Hypoxemia, Pneumothorax, Cyanosis	ORPHA:1302
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Hydrocephalus	OMIM:304100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis, Truncal obesity	ORPHA:2429
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Citrullinemia Type I	Lethargy, Failure to thrive	ORPHA:247525
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
X-Linked Intellectual Disability, Cabezas Type	Obesity, Short neck, Cachexia, Scoliosis, Kyphosis	ORPHA:85293
Bladder Exstrophy	Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia	ORPHA:93930
Fryns-Smeets-Thiry Syndrome	Cachexia, Scoliosis	ORPHA:2058
Triploidy	Hydrocephalus, Omphalocele	ORPHA:3376
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Meconium Aspiration Syndrome	Pneumothorax, Hypoxemia, Atelectasis, Aspiration pneumonia	ORPHA:70588
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele	OMIM:601357
Lymphatic Malformation 12	Inguinal hernia, Neonatal death, Death in adolescence, Pleural thickening, Recurrent upper and lo...	OMIM:620014
Holocarboxylase Synthetase Deficiency	Lethargy, Weight loss	ORPHA:79242
Constricting Bands, Congenital	Omphalocele, Bladder exstrophy, Gastroschisis, Abnormal lung lobation	OMIM:217100
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Ventriculomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis	OMIM:230650
Tetrasomy 5P	Cyanosis, Pericallosal lipoma, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalu...	ORPHA:3309
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Omphalocele, Part...	OMIM:222448
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis	ORPHA:2004
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Failure to thrive	OMIM:238970
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Lethargy, Failure to thrive	OMIM:250940
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive	OMIM:611590
L1 Syndrome	Aqueductal stenosis, Depression, Hydrocephalus	ORPHA:275543
Whipple Disease	Cachexia, Depression, Hydrocephalus	ORPHA:3452
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:237300
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short neck, Hydrocephalus, Sacral dimple	ORPHA:1516
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Xfe Progeroid Syndrome	Ventriculomegaly, Cachexia, Scoliosis, Failure to thrive	OMIM:610965
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Scoliosis, Failure to thrive	OMIM:201470
Teebi Hypertelorism Syndrome 1	Omphalocele, Pulmonary hypoplasia	OMIM:145420
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Chiari Malformation Type Ii	Cyanosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:207950
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Global Developmental Delay With Or Without Impaired Intellectual Development	Pulmonary sequestration, Lateral ventricle dilatation	OMIM:618330
Meningococcal Meningitis	Increased CSF protein concentration, Lethargy, CSF pleocytosis, Hypoglycorrhachia	ORPHA:33475
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 11	Increased CSF lactate, Lethargy, Stillbirth, Neonatal death	OMIM:614922
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	ORPHA:927
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Dihydropyrimidinase Deficiency	Elevated CSF dihydrouracil concentration, Lethargy, Failure to thrive	OMIM:222748
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Temple Syndrome	Obesity, Hydrocephalus, Truncal obesity, Overweight, Scoliosis, Small for gestational age	OMIM:616222
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Failure to thrive, Increased CSF lactate, Increased CSF lysine concentration, C...	OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis, Failure to thrive	OMIM:618234
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy	OMIM:618120
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly, Lethargy	ORPHA:765
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Scoliosis, Kyphosis, Neonatal death	OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Ogden Syndrome	Ventriculomegaly, Lethargy, Scoliosis	ORPHA:276432
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Diastasis recti, Inguinal hernia, Wrist flexion contracture, Flexion contractur...	ORPHA:254528
Carnitine Deficiency, Systemic Primary	Lethargy, Failure to thrive	OMIM:212140
Primary Ciliary Dyskinesia	Ventriculomegaly, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribroncho...	ORPHA:244
Congenital Toxoplasmosis	Failure to thrive in infancy, Ventriculomegaly, Hydrocephalus	ORPHA:858
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Obesity, Hydrocephalus, Hemivertebrae, Scoliosis	ORPHA:2180
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Scoliosis, Hydrocephalus	OMIM:618577
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased CSF lactate, Ventriculomegaly, Lethargy	OMIM:604377
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Scoliosis, Obesity	ORPHA:813
Thanatophoric Dysplasia Type 2	Platyspondyly, Ventriculomegaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis	ORPHA:93274
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Alpha-1-Antitrypsin Deficiency	Bronchitis, Emphysema, Jaundice, Panniculitis, Bronchiectasis	ORPHA:60
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Wolman Disease	Cachexia	ORPHA:75233
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Increased CSF glycine concentration	OMIM:614299
Melnick-Needles Syndrome	Recurrent respiratory infections, Omphalocele	ORPHA:2484
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Scoliosis	ORPHA:300605
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Failure to thrive	OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Lethargy	ORPHA:289916
Auriculocondylar Syndrome 2B	Omphalocele	OMIM:620458
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Pulmonary hypoplasia, Dandy-Walker malformation, Omphalocele, Stillbirth	OMIM:616300
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Developmental And Epileptic Encephalopathy 89	Flexion contracture, Death in childhood, Omphalocele, Neonatal death	OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus	OMIM:616521
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Cyanosis, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
6P22 Microdeletion Syndrome	Short neck, Hydrocephalus	ORPHA:251046
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Isaacs Syndrome	Weight loss	ORPHA:84142
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d...	OMIM:613686
Classic Galactosemia	Lethargy, Depression	ORPHA:79239
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Death in infancy, Neonatal death	OMIM:300219
Opitz Gbbb Syndrome	Ventriculomegaly, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Agenesis of...	ORPHA:2745
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lethargy, Lateral ventricle dilatation	OMIM:617397
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Martsolf Syndrome 2	Camptodactyly, Lateral ventricle dilatation, Camptodactyly of finger	OMIM:619420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Ventriculomegaly, Scoliosis, Kyphosis	ORPHA:48431
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:1969
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Vacterl/Vater Association	Congenital diaphragmatic hernia, Omphalocele, Aplasia/Hypoplasia of the lungs	ORPHA:887
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Amyotrophic Lateral Sclerosis	Cachexia, Depression	ORPHA:803
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Carpenter Syndrome 1	Camptodactyly, Joint contracture of the hand, Omphalocele, Umbilical hernia	OMIM:201000
Fibrochondrogenesis 1	Camptodactyly, Joint contracture of the hand, Omphalocele, Stillbirth	OMIM:228520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventriculomegaly, Pulmonary artery dilatation, Abnormal lung lobation, Alveolar capillary dysplas...	OMIM:265380
Infantile Krabbe Disease	Increased CSF protein concentration, Cachexia, Failure to thrive	ORPHA:206436
Propionic Acidemia	Lethargy, Failure to thrive	OMIM:606054
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Umbilical hernia, Emphysema, Inguinal h...	OMIM:219100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Hydrocephalus, Omphalocele, Umbilical hernia	ORPHA:2166
Thanatophoric Dysplasia	Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis	ORPHA:2655
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronchiectasis	OMIM:244400
Robinow Syndrome, Autosomal Recessive 2	Camptodactyly, Ventral hernia, Omphalocele	OMIM:618529
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Inguinal hernia, Abnormality of the abdominal wall, Omphalocele, C...	OMIM:247200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive	OMIM:210200
Lethal Congenital Contracture Syndrome 10	Omphalocele, Pulmonary hypoplasia	OMIM:617022
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Hydrocepha...	ORPHA:15
Isovaleric Acidemia	Lethargy	OMIM:243500
Sim1-Related Prader-Willi-Like Syndrome	Ventriculomegaly, Failure to thrive, Obesity, Lethargy, Abdominal obesity, Scoliosis	ORPHA:398079
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Marshall-Smith Syndrome	Ventriculomegaly, Recurrent upper respiratory tract infections, Umbilical hernia, Aspiration pneu...	OMIM:602535
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Scoliosis, Hydrocephalus	ORPHA:99947
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Butterfly vertebrae, Small for gestational age, Failure to thrive	OMIM:607143
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression, Overweight	ORPHA:99832
Evans Syndrome	Lethargy	ORPHA:1959
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventriculomegaly, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele	OMIM:618454
Acrocephalopolydactylous Dysplasia	Extrapulmonary lobar sequestration, Omphalocele, Pulmonary hypoplasia	OMIM:200995
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Bresek Syndrome	Scoliosis, Hydrocephalus, Hemivertebrae, Neonatal death	ORPHA:85284
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Lethargy, Hydrocephalus, Failure to thrive	ORPHA:395
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity, Scoliosis, Kyphosis	OMIM:618124
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Primary Myelofibrosis	Cachexia	ORPHA:824
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Short neck, Punctate vertebral calcifications	ORPHA:1914
Insulinoma	Increased body weight, Lethargy	ORPHA:97279
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Scoliosis, Kyphosis	OMIM:617435
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Pseudotrisomy 13 Syndrome	Hydrocephalus, Omphalocele, Agenesis of corpus callosum	OMIM:264480
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:602501
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Neurodegeneration And Seizures Due To Copper Transport Defect	Increased CSF lactate, Ventriculomegaly, Lethargy, Decreased CSF copper concentration	OMIM:620306
Pagod Syndrome	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Death in infancy, Abnormality of th...	ORPHA:991
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, Scoliosis, Kyphosis	OMIM:300676
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Death in infancy	OMIM:617668
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia, Hydrocephalus, Omphalocele, Camptodactyly of finger	ORPHA:90652
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progero...	OMIM:613177
Magel2-Related Prader-Willi-Like Syndrome	Ventriculomegaly, Failure to thrive, Increased body weight, Lethargy, Abdominal obesity, Scoliosi...	ORPHA:398069
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy	ORPHA:27
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Chromosome 9P Deletion Syndrome	Inguinal hernia, Omphalocele	OMIM:158170
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Small for gestational age, Failure to thrive	OMIM:609015
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Omphalocele, Umbilical hernia	ORPHA:2241
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Lethargy, Large for gestational age	ORPHA:263455
Typhoid	Lethargy	ORPHA:99745
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Cyanosis	OMIM:250790
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Esophageal Atresia	Bronchitis, Cyanosis, Omphalocele, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:1199
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Pulmonary Alveolar Microlithiasis	Bronchiectasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, O...	ORPHA:60025
Infantile Sialic Acid Storage Disease	Hydrocephalus, Failure to thrive	OMIM:269920
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Abnormal thalamic MRI signal intensity	ORPHA:444013
Isolated Atp Synthase Deficiency	Lethargy	ORPHA:254913
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Scoliosis, Kyphosis	OMIM:615834
Huntington Disease-Like 1	Ventriculomegaly, Bradykinesia, Depression, Weight loss	ORPHA:157941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Ventriculomegaly, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:606612
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Scoliosis, Hydrocephalus	OMIM:617542
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Hydrocephalus	ORPHA:220295
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus	ORPHA:272
Schwartz-Jampel Syndrome	Platyspondyly, Abnormally straight spine, Decreased body weight, Short neck, Cachexia, Hyperlordo...	ORPHA:800
Fryns Syndrome	Joint contracture of the hand, Chylothorax, Aplasia of the left hemidiaphragm, Agenesis of corpus...	OMIM:229850
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Ventriculomegaly, Scoliosis, Kyphosis	OMIM:619797
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus, Failure to thrive	OMIM:245200
Chromosome 10Q26 Deletion Syndrome	Omphalocele	OMIM:609625
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies	ORPHA:93262
Chromosome 3Q13.31 Deletion Syndrome	Ventriculomegaly, Alobar holoprosencephaly, Kyphosis	OMIM:615433
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood	OMIM:619517
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Kyphosis, Thoracic scoliosis	OMIM:603387
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Halperin-Birk Syndrome	Ventriculomegaly, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Death in ch...	OMIM:618651
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Inguinal hernia	ORPHA:85290
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema	ORPHA:2038
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Holoprosencephaly	Panhypopituitarism, Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Aplasia/Hypoplas...	ORPHA:2162
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Scoliosis, Kyphosis	ORPHA:352490
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Cyanosis, Bilateral trilobed lung, Hydrocephalus, Omphal...	OMIM:306955
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Failure to thrive	OMIM:251000
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy	ORPHA:156
Medulloblastoma	Hydrocephalus, Lethargy, Back pain	ORPHA:616
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Small for gestational age, Hydrocephalus, Failure to thrive	OMIM:609757
Nasu-Hakola Disease	Ventriculomegaly, Hydrocephalus	ORPHA:2770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613153
Postencephalitic Parkinsonism	Abnormal CSF protein concentration, Depression, CSF lymphocytic pleiocytosis, Camptocormia, Brady...	ORPHA:97349
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy, Weight loss	ORPHA:465508
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple	OMIM:615761
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Eosinophilic Fasciitis	Cellulitis, Acrocyanosis, Fasciitis	ORPHA:3165
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Baralle-Macken Syndrome	Obesity, Kyphosis	OMIM:619255
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Spi...	OMIM:618291
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Seckel Syndrome	Cachexia, Scoliosis	ORPHA:808
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Recurrent pneumonia, Lateral ventricle dilatation, Umbilical hernia	OMIM:617751
Houge-Janssens Syndrome 1	Ventriculomegaly, Scoliosis, Hydrocephalus	OMIM:616355
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Ullrich Congenital Muscular Dystrophy	Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele	ORPHA:371428
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis ...	ORPHA:79243
Huntington Disease	Depression, Decreased body mass index, Apathy, Weight loss, Bradykinesia	ORPHA:399
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Vertebral compression fracture, Scoliosis, Hydrocephalus	OMIM:112240
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Diastasis recti, Agenesis of corpus callosum, Ele...	OMIM:618419
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:611134
Iniencephaly	Congenital diaphragmatic hernia, Hydrocephalus, Dandy-Walker malformation, Omphalocele, Arthrogry...	ORPHA:63259
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Hydrocephalus	ORPHA:2701
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Houge-Janssens Syndrome 2	Ventriculomegaly, Scoliosis, Hydrocephalus	OMIM:616362
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Failure to thrive, Colpocephaly, Hydrocephalus, Scoliosis	OMIM:619833
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:536516
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Premature graying of hair	OMIM:620365
Renal Hypoplasia, Bilateral	Lethargy, Small for gestational age, Failure to thrive	ORPHA:97362
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Codas Syndrome	Ventriculomegaly, Enamel hypoplasia, Omphalocele	OMIM:600373
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Perry Syndrome	Depression, Bradykinesia, Apathy, Weight loss	OMIM:168605
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Flexion c...	OMIM:613154
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility	ORPHA:335
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Kyphosis, Hyperlordosis	ORPHA:3085
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Partial agenesis of the corpus callosum, Cyanosis, Dea...	OMIM:617478
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Mucopolysaccharidosis, Type Iva	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Lumbar kyphosis, Short ne...	OMIM:253000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Failure to thrive	OMIM:201100
Craniorachischisis	Congenital diaphragmatic hernia, Omphalocele	ORPHA:63260
C Syndrome	Omphalocele	OMIM:211750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Overweight, Obesity, Small for gestational age	ORPHA:26793
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Kyphosi...	OMIM:609029
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Hydrolethalus Syndrome 1	Abnormal lung lobation, Agenesis of corpus callosum, Omphalocele, Stillbirth, Dandy-Walker malfor...	OMIM:236680
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin	ORPHA:2314
Trisomy 18	Cachexia, Holoprosencephaly, Anencephaly, Spina bifida	ORPHA:3380
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Pleural effusion, Lateral ventricle dilatation, Dandy-Walker ma...	OMIM:618606
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Abnormality of the vertebral column	OMIM:109120
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hydrocephalus, Overweight, Scoliosi...	ORPHA:500055
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Neonatal death, Hydrocephalus...	OMIM:314390
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Hydrocephalus, Omphalocele, Camptodactyly, Partial agenesis of the...	OMIM:300373
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Obesity, Hydrocephalus	ORPHA:171839
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Kyphosis, Sacral dimple	OMIM:618272
Citrullinemia Type Ii	Lethargy, Decreased body mass index, Mania	ORPHA:247585
Simpson-Golabi-Behmel Syndrome	Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Deat...	ORPHA:373
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Maple Syrup Urine Disease, Type Ia	Lethargy	OMIM:248600
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ventriculomegaly, Cyanosis	OMIM:619580
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy, Small for gestational age, Failure to thrive	OMIM:277380
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Scoliosis	ORPHA:109
Meckel Syndrome, Type 1	Ventriculomegaly, Camptodactyly of finger, Dilated fourth ventricle, Agenesis of corpus callosum,...	OMIM:249000
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Scoliosis, Kyphosis	ORPHA:464282
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly	ORPHA:1908
4Q21 Microdeletion Syndrome	Ventriculomegaly, Short neck, Scoliosis, Kyphosis	ORPHA:238750
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Pulmonary artery atresia, Omphalocele	OMIM:616894
Thanatophoric Dysplasia, Type I	Platyspondyly, Neonatal death, Short neck, Severe platyspondyly, Hydrocephalus	OMIM:187600
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Isolated Complex I Deficiency	Increased CSF lactate, Lethargy, Failure to thrive	ORPHA:2609
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Lumbar hyperlordosis, Hydroc...	ORPHA:370959
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Kyphoscoliosis	OMIM:614846
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Clark-Baraitser syndrome	Obesity, Scoliosis, Kyphosis	OMIM:300602
Alg9-Cdg	Abnormal lung lobation, Lipodystrophy, Omphalocele, Pulmonary hypoplasia	ORPHA:79328
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Scrub Typhus	Lethargy	ORPHA:83317
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:225790
Arachnoiditis	Hydrocephalus	ORPHA:137817
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Contractures of the l...	ORPHA:3078
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Hydrocephalus,...	ORPHA:538
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis, Obesity	ORPHA:3191
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ventriculomegaly, Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia...	OMIM:308205
Hypophosphatasia	Emphysema	ORPHA:436
Necrotizing Enterocolitis	Lethargy, Small for gestational age	ORPHA:391673
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Lethargy	OMIM:618321
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Failure to thrive	ORPHA:79284
Melnick-Needles Syndrome	Recurrent respiratory infections, Omphalocele, Stillbirth	OMIM:309350
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydrocepha...	OMIM:610828
Camurati-Engelmann Disease	Abnormality of the vertebral column, Slender build, Cachexia, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:1328
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Dengue Fever	Lethargy	ORPHA:99828
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Vascular skin abnormality, Inguinal hernia...	ORPHA:544488
Encephalitis Lethargica	Increased CSF protein concentration, Lethargy	ORPHA:83600
Arachnoid Cyst	Depression, Enlarged fossa interpeduncularis, Sciatica, Diminished motivation, Self-neglect, Ence...	ORPHA:2356
B4Galt1-Cdg	Small for gestational age, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus	OMIM:218350
Familial Hypoaldosteronism	Lethargy, Failure to thrive	ORPHA:427
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Obesity, Hydrocephalus	OMIM:615630
Wilson Disease	Depression, Failure to thrive, Increased body weight, Weight loss, Back pain	ORPHA:905
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Argininosuccinic Aciduria	Elevated CSF argininosuccinic acid concentration, Lethargy, Failure to thrive	OMIM:207900
Kagami-Ogata Syndrome	Diastasis recti, Inguinal hernia, Omphalocele	ORPHA:254519
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Thanatophoric Dysplasia Type 1	Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis	ORPHA:1860
Crouzon Syndrome	Abnormal sacrum morphology, Hydrocephalus	ORPHA:207
Late-Onset Isolated Acth Deficiency	Lethargy, Weight loss, Failure to thrive	ORPHA:199299
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Omphalocele, Agenesis of corpus callosum	OMIM:618820
3-Hydroxy-3-Methylglutaric Aciduria	Lethargy, Apathy, Weight loss	ORPHA:20
Methylmalonic Aciduria, Cblb Type	Lethargy, Failure to thrive	OMIM:251110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
15Q24 Microdeletion Syndrome	Kyphosis, Failure to thrive, Myelomeningocele, Obesity, Scoliosis, Small for gestational age	ORPHA:94065
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Small for gestational age, Hydrocephalus, Failure to thrive	OMIM:277400
Pontocerebellar Hypoplasia, Type 1A	Congenital contracture, Lateral ventricle dilatation	OMIM:607596
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Kyphosis	ORPHA:500180
Cardiac Diverticulum	Pulmonary artery hypoplasia, Abdominal wall defect, Umbilical hernia, Diastasis recti, Pulmonary ...	ORPHA:1686
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
3C Syndrome	Ventriculomegaly, Short neck, Hydrocephalus, Hemivertebrae, Scoliosis, Kyphosis, Dandy-Walker mal...	ORPHA:7
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Lethargy	OMIM:608836
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Failure to thrive, Hydrocephalus, Dandy-Walker malformation	OMIM:612938
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Kyphosis, Abdominal obesity	OMIM:300354
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive	OMIM:210210
Alexander Disease	Depression, Failure to thrive, Short neck, Hyperlordosis, Hydrocephalus, Aqueductal stenosis, Sco...	ORPHA:58
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Hydrocephalus, Kyphosis, Dandy-Walker ...	OMIM:618476
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:618736
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Depression, Scoliosis, Hyperlordosis	OMIM:128100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Umbilical hernia, Inguinal hernia, Joint contracture of the 5th fin...	OMIM:618914
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Lethargy	ORPHA:746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Failure to thrive	ORPHA:71212
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Arthrogryposis multiplex congenita, Cyanosis	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Arthrogryposis multiplex congenita, Cyanosis	ORPHA:590
Emanuel Syndrome	Ventriculomegaly, Failure to thrive, Kyphoscoliosis, Hydrocephalus, Dandy-Walker malformation, Sc...	ORPHA:96170
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis	ORPHA:3426
Methylmalonic Aciduria, Cbla Type	Lethargy, Failure to thrive	OMIM:251100
Diabetic Embryopathy	Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebral segmentation defect	ORPHA:1926
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Decreased CSF homovanillic acid concentration	OMIM:608643
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Congenital contracture, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus	OMIM:620156
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Ventriculomegaly, Cachexia, Hydrocephalus, Scoliosis	ORPHA:2072
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Holoprosencephaly, Hydrocephalus, Hemivertebrae	ORPHA:77298
Transcobalamin Ii Deficiency	Lethargy, Failure to thrive	OMIM:275350
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
3Mc Syndrome 1	Conjunctival telangiectasia, Abnormality of the abdominal wall, Diastasis recti, Omphalocele	OMIM:257920
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Neonatal death, Normal pressure hydrocephalus, Scoliosis, Kyphosis, Spinal ri...	OMIM:620351
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Netherton Syndrome	Emphysema, Recurrent respiratory infections, Urticaria	ORPHA:634
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Cole-Carpenter Syndrome 2	Platyspondyly, Hydrocephalus, Kyphosis	OMIM:616294
Focal Myositis	Weight loss	ORPHA:48918
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,...	OMIM:183900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Neonatal death, Hydrocephalus, Kyphosis	OMIM:616482
Mitochondrial Dna Depletion Syndrome 11	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Schaaf-Yang Syndrome	Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis	OMIM:615547
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc...	ORPHA:2311
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Cyanosis, Pleural effusion, Hydrocephalus	OMIM:261740
Cloacal Exstrophy	Cloacal exstrophy, Omphalocele, Bladder exstrophy	ORPHA:93929
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:619244
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy, Failure to thrive	OMIM:620233
Exstrophy-Epispadias Complex	Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Abnormality of the abdomina...	ORPHA:322
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Peroxisome Biogenesis Disorder 5A (Zellweger)	Colpocephaly, Lethargy, Small for gestational age, Failure to thrive	OMIM:614866
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
Cutis Laxa, Autosomal Recessive, Type Iib	Scoliosis, Hydrocephalus, Failure to thrive	OMIM:612940
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Hydrocephalus	OMIM:300863
Ritscher-Schinzel Syndrome 1	Dandy-Walker malformation, Hydrocephalus, Hemivertebrae	OMIM:220210
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Scoliosis, Kyphosis, Spinal rigidity	OMIM:254090
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Anomalous pulmonary venous return	ORPHA:555874
Cole-Carpenter Syndrome	Communicating hydrocephalus, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Failure to thrive, Bipolar affective disorder, Lethargy, Bradykinesia	ORPHA:254892
Pettigrew Syndrome	Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Scoliosis, Dandy-Walker malformation	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Semilobar Holoprosencephaly	Depression, Failure to thrive, Lethargy, Apathy, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:220386
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Alobar Holoprosencephaly	Depression, Failure to thrive, Lethargy, Apathy, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Failure to thrive, Lethargy, Apathy, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Depression, Failure to thrive, Lethargy, Apathy, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93924
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Citrullinemia, Classic	Lethargy, Failure to thrive	OMIM:215700
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy	OMIM:607483
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Ventriculomegaly, Vertebral wedging, Choroid plexus cyst, Hydrocephalus	OMIM:617866
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Kyphoscoliosis, Abnormal curvat...	ORPHA:93360
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Genitopalatocardiac Syndrome	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2075
Follicular Lymphoma	Weight loss	ORPHA:545
Bartsocas-Papas Syndrome 1	Inguinal hernia, Omphalocele, Inferiorly positioned umbilicus, Flexion contracture, Arthrogryposi...	OMIM:263650
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Pleural Mesothelioma	Weight loss	ORPHA:50251
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Bone Dysplasia, Lethal Holmgren Type	Short neck, Weight loss, Failure to thrive	ORPHA:1842
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Depression, Failure to thrive	ORPHA:90674
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Combined Immunodeficiency-Enteropathy Spectrum	Congenital pulmonary airway malformation, Omphalocele	ORPHA:436252
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Cutis marmorata, Purpura, Acrocy...	ORPHA:183
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Hydrocephalus, Failure to thrive	ORPHA:60040
Distal Triplication 15Q	Large for gestational age, Hydrocephalus, Scoliosis, Kyphosis, Dandy-Walker malformation	ORPHA:314588
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus	OMIM:615219
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Marfan Syndrome	Slender build, Spondylolisthesis, Cachexia, Meningocele, Scoliosis, Kyphosis	ORPHA:558
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion, Angioedema	ORPHA:36412
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98863
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Slender build, Spond...	ORPHA:828
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Dilated third ventricle, Lateral ventricle dilatation, Contracture of the pr...	ORPHA:464738
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis	ORPHA:137834
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Umbilical hernia, Omphalocele, Camptodactyly of finger	ORPHA:920
Trichinellosis	Lethargy, Apathy, Abnormal cerebrospinal fluid morphology	ORPHA:863
Focal Dermal Hypoplasia	Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Agenesis of ...	OMIM:305600
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:616602
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98855
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Marinesco-Sjogren Syndrome	Scoliosis, Kyphosis, Failure to thrive	OMIM:248800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary hypoplasia, Interphalangeal joint contracture of finger, Diastasis recti, Hernia of the...	ORPHA:96334
Fanconi Anemia, Complementation Group R	Scoliosis, Hydrocephalus	OMIM:617244
Lateral Meningocele Syndrome	Biconcave vertebral bodies, Short neck, Hydrocephalus, Vertebral fusion, Meningocele, Scoliosis, ...	OMIM:130720
Poems Syndrome	Increased circulating prolactin concentration, Pleural effusion, Plethora, Lipodystrophy, Acrocya...	ORPHA:2905
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Pelvis-Shoulder Dysplasia	Hydranencephaly, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Prominent protrudin...	ORPHA:2839
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
1Q44 Microdeletion Syndrome	Ventriculomegaly, Scoliosis, Hydrocephalus	ORPHA:238769
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis	OMIM:607155
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ...	OMIM:600145
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Scoliosis, Kyphosis	OMIM:619951
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Czeizel-Losonci Syndrome	Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida, Spina bifida occulta	ORPHA:2437
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Agenesis o...	ORPHA:2273
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Recurrent lower respiratory tract infections, Death in childhood, Death in infancy	OMIM:618426
Diastrophic Dysplasia	Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies	ORPHA:628
Urban-Rogers-Meyer Syndrome	Short neck, Obesity, Kyphosis	ORPHA:3409
Acth-Independent Macronodular Adrenal Hyperplasia	Depression, Kyphosis, Truncal obesity	OMIM:219080
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Hydrocephalus, Failure to thrive	OMIM:614576
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Recurrent respiratory in...	ORPHA:397715
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Hydrocephalus	OMIM:219730
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:311250
Cirrhosis, Familial	Lethargy	OMIM:215600
Sialidosis Type 2	Kyphosis	ORPHA:87876
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Uruguay Faciocardiomusculoskeletal Syndrome	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:300280
Lysosomal Acid Lipase Deficiency	Cachexia, Weight loss, Failure to thrive	ORPHA:275761
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Kyphosis, Truncal obesity	OMIM:610475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Scoliosis, Hydrocephalus	OMIM:615249
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Hydrocephalus, Failure to thrive	ORPHA:79282
Histiocytoid Cardiomyopathy	Lethargy, Hydrocephalus, Failure to thrive	ORPHA:137675
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Abnormal sacroiliac joint morphology, Scoliosis, Weight loss	ORPHA:324964
Mitochondrial Complex I Deficiency, Nuclear Type 1	Increased CSF lactate, Increased CSF protein concentration, Lethargy, Failure to thrive	OMIM:252010
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:231670
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus	OMIM:272200
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Pfapa Syndrome	Weight loss	ORPHA:42642
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hydrocephalus, Sandwich appearance of vertebral bodies	OMIM:259700
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Short neck, Scoliosis, Kyphosis	OMIM:301041
Oeis Complex	Hydrocephalus, Cloacal exstrophy, Omphalocele, Bladder exstrophy	OMIM:258040
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Joubert Syndrome	Hydrocephalus, Encephalocele, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:475
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect...	ORPHA:1572
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Hydrocephalus	ORPHA:163966
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Obesity, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity	ORPHA:98853
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Fliedner-Zweier Syndrome	Meningocele, Scoliosis, Kyphosis, Obesity	OMIM:620511
Whim Syndrome	Cellulitis, Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelect...	ORPHA:51636
Oromandibular Dystonia	Depression, Weight loss	ORPHA:93958
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Hyperlordosis, Cervical s...	OMIM:253010
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Shashi-Pena Syndrome	Ventriculomegaly, Cervical C2/C3 vertebral fusion, Mild fetal ventriculomegaly, Scoliosis, Kyphosis	OMIM:617190
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Cigarette-paper scars, Bruising susceptibi...	OMIM:130050
19P13.12 Microdeletion Syndrome	Ventriculomegaly, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:254346
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Sepsis In Premature Infants	Cyanosis, Jaundice, Purpura, Petechiae	ORPHA:90051
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Hyperl...	OMIM:616007
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Depression, Weight loss	ORPHA:221098
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Cervical instability, Scoliosis, Back ...	ORPHA:94068
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Hypocapnia, Pulmonary edema, Recurrent respiratory infections, Bro...	ORPHA:980
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventriculomegaly, Atelectasis, Death in childhood, Recurrent respiratory infections, Pulmonary fi...	OMIM:618278
Biotinidase Deficiency	Lethargy, Myelopathy	ORPHA:79241
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:3219
Desbuquois Dysplasia 1	Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis	OMIM:251450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Colpocephaly, Hydrocephalus, ...	OMIM:620371
Cockayne Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:191
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus...	ORPHA:2916
Trisomy 17P	Short neck, Scoliosis, Hydrocephalus	ORPHA:261290
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy, Increased CSF glycine concentration	OMIM:620423
Gm1 Gangliosidosis	Platyspondyly, Abnormal form of the vertebral bodies, Failure to thrive, Weight loss, Hyperlordos...	ORPHA:354
Fucosidosis	Acrocyanosis, Lipoatrophy, Vascular skin abnormality	ORPHA:349
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly...	OMIM:619895
Achondroplasia	Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe platyspondyly, Hydrocephal...	OMIM:100800
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Ventriculomegaly, Short neck, Hydrocephalus	OMIM:300514
Tenorio Syndrome	Ventriculomegaly, Scoliosis, Hydrocephalus	OMIM:616260
Complete Atrioventricular Septal Defect	Lethargy, Failure to thrive	ORPHA:1329
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Bruising susceptibility, Atelectasis, Atrophic scars, Multiple joint c...	ORPHA:536467
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Hydrocephalus, Scoliosis, Encephalocele	ORPHA:220493
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle dilatation, Hydr...	OMIM:619575
1Q21.1 Microdeletion Syndrome	Depression, Scoliosis, Hydrocephalus, Failure to thrive	ORPHA:250989
Nijmegen Breakage Syndrome	Short neck, Cachexia	ORPHA:647
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Acrodysostosis 1 With Or Without Hormone Resistance	Spinal canal stenosis, Narrow vertebral interpedicular distance, Hypoplastic vertebral bodies, Hy...	OMIM:101800
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Decreased body weight	OMIM:614886
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Failure to thrive	OMIM:608776
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Wieacker-Wolff Syndrome	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:314580
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Scoliosis, Encephalocele	ORPHA:2318
Distal 16P11.2 Microdeletion Syndrome	Obesity, Kyphosis	ORPHA:261222
Charge Syndrome	Umbilical hernia, Omphalocele, Aqueductal stenosis, Anterior hypopituitarism, Dandy-Walker malfor...	ORPHA:138
Typical Nemaline Myopathy	Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:171436
Amoebiasis Due To Free-Living Amoebae	CSF lymphocytic pleiocytosis, Increased CSF protein concentration, Lethargy, Abnormal cerebrospin...	ORPHA:68
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Agenesis of corpus callosum, Omphalocele, Dandy-Walker malformation, Pulmonary ...	ORPHA:93271
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis	OMIM:151800
Hurler Syndrome	Abnormal vertebral morphology, Depression, Spinal canal stenosis, Short neck, Hydrocephalus, Scol...	ORPHA:93473
Jaberi-Elahi Syndrome	Failure to thrive, Scoliosis, Kyphosis, Dandy-Walker malformation	OMIM:617988
Pemphigus Vulgaris	Depression, Weight loss	ORPHA:704
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp...	OMIM:108300
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Joubert Syndrome With Renal Defect	Hydrocephalus, Scoliosis, Encephalocele	ORPHA:220497
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Pelger-Huet Anomaly	Kyphosis, Failure to thrive	OMIM:169400
Harrod Syndrome	Scoliosis, Kyphosis, Failure to thrive	ORPHA:2115
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:1647
Monosomy 9Q22.3	Ventriculomegaly, Abnormality of the vertebral column, Large for gestational age, Short neck, Hyd...	ORPHA:77301
Farber Disease	Flexion contracture, Nodular pattern on pulmonary HRCT, Recurrent upper respiratory tract infecti...	ORPHA:333
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Loeys-Dietz Syndrome 4	Emphysema, Bruising susceptibility, Pneumothorax, Inguinal hernia	OMIM:614816
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of ...	OMIM:603546
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Ventriculomegaly, Pneumonia, Abnormal late...	ORPHA:1855
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele, Dandy-Walker malformation	OMIM:614424
Aicardi Syndrome	Recurrent pneumonia, Dilated third ventricle, Lateral ventricle dilatation, Hiatus hernia, Choroi...	OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly, Scoliosis, Spinal rigidity	OMIM:253800
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis, Failure to thrive	ORPHA:420794
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Gerstmann-Straussler Disease	Bradykinesia, Depression, Weight loss	OMIM:137440
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Mirage Syndrome	Scoliosis, Hydrocephalus, Decreased body weight	OMIM:617053
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corp...	OMIM:620113
Fraser Syndrome	Abnormal lung lobation, Umbilical hernia, Death in infancy, Omphalocele, Pulmonary hypoplasia	ORPHA:2052
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis	OMIM:618443
Hurler Syndrome	Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Hy...	OMIM:607014
Hydrolethalus	Anencephaly, Hydrocephalus	ORPHA:2189
Beckwith-Wiedemann Syndrome	Dandy-Walker malformation, Diastasis recti, Omphalocele	OMIM:130650
Biotinidase Deficiency	Lethargy	OMIM:253260
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Pearson Marrow-Pancreas Syndrome	Lethargy, Small for gestational age, Failure to thrive	OMIM:557000
Mucopolysaccharidosis Type 6	Short neck, Failure to thrive, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy, Failure to thrive	OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Encephalocele, Hydrocephalus, Scoliosis, Spinal rigidity	OMIM:613150
Gracile Bone Dysplasia	Hydrocephalus, Failure to thrive	OMIM:602361
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Anomalous pulmonary venous return	ORPHA:99104
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis	ORPHA:31826
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis	ORPHA:99106
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Inguinal hernia, Hernia, Pn...	ORPHA:90349
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Short neck, Kyphosis	OMIM:309900
Osteootohepatoenteric Syndrome	Weight loss, Hydrocephalus, Failure to thrive	OMIM:619377
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Anisospondyly, Short neck, Encephalocele	ORPHA:1865
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Lateral ventricle dilatation, Death in childhood, Death in infancy, Hydrocep...	OMIM:612301
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:582
Fg Syndrome Type 1	Slender build, Ventriculomegaly, Hydrocephalus, Sacral dimple	ORPHA:93932
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Liposarcoma	Weight loss	ORPHA:69078
Rhabdoid Tumor	Weight loss	ORPHA:69077
Ablepharon-Macrostomia Syndrome	Camptodactyly, Ventral hernia, Omphalocele, Premature skin wrinkling	OMIM:200110
Familial Dysautonomia	Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections	ORPHA:1764
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Monosomy 18Q	Failure to thrive, Slender build, Kyphoscoliosis, Hydrocephalus, Atlantoaxial abnormality	ORPHA:1600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Short neck, Overweight, Decreased cervical spine mobility	ORPHA:226307
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
C Syndrome	Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic ...	ORPHA:1308
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Meningocele, Scoliosis, Kyphosis	ORPHA:2789
Cap Polyposis	Weight loss	ORPHA:160148
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Cholera	Lethargy	ORPHA:173
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,...	ORPHA:141127
Hydranencephaly	Ventriculomegaly, Lethargy	ORPHA:2177
Graves Disease	Weight loss	OMIM:275000
Immunodeficiency 27A	Weight loss	OMIM:209950
Thymic Carcinoma	Weight loss	ORPHA:99868
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Scoliosis, Kyphosis	ORPHA:364028
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Failure to thrive	ORPHA:415
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis	OMIM:609128
Criss-Cross Heart	Cyanosis	ORPHA:1461
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Umbilical hernia, Hydrocephalus, Omphalocele, Stillbirth	OMIM:304120
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Hemivertebrae, Spina...	ORPHA:3412
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617822
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Pigmented Nodular Adrenocortical Disease, Primary, 1	Depression, Kyphosis, Truncal obesity	OMIM:610489
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum	OMIM:609053
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Osteosarcoma	Weight loss	ORPHA:668
Cardiac Valvular Dysplasia 1	Cyanosis, Pulmonary artery atresia, Inguinal hernia	OMIM:212093
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlord...	OMIM:253200
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Short neck, Encephalocele	OMIM:224400
Koolen-De Vries Syndrome	Ventriculomegaly, Small for gestational age, Failure to thrive, Spondylolisthesis, Vertebral fusi...	OMIM:610443
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Scoliosis, Hydrocephalus, Hemivertebrae	OMIM:104350
Chronic Beryllium Disease	Weight loss	ORPHA:133
Dural Sinus Malformation	Apathy, Myelopathy, Hydrocephalus	ORPHA:97339
Posterior Urethral Valve	Lethargy	ORPHA:93110
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia...	OMIM:187300
Tarp Syndrome	Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature skin wrinkling, Emphysema, Premature graying of hair, Abnormality of the pulmonary arte...	ORPHA:363618
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Basal Cell Nevus Syndrome 1	Vertebral wedging, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Spina bifida, Vertebral fusion, ...	OMIM:109400
Chromosome 17P13.1 Deletion Syndrome	Short neck, Spina bifida, Hydrocephalus, Scoliosis, Sacral dimple	OMIM:613776
Rabin-Pappas Syndrome	Failure to thrive in infancy, Obesity, Hydrocephalus	OMIM:620155
Rhombencephalosynapsis	Ventriculomegaly, Hydrocephalus	ORPHA:59315
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Recurrent respiratory infections, Emphysem...	OMIM:616835
Beckwith-Wiedemann Syndrome	Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Omphalocele	ORPHA:116
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry, Kyphosis	OMIM:616914
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Crouzon Syndrome	Abnormality of the cervical spine, Hydrocephalus	OMIM:123500
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ...	ORPHA:3384
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Large for gestational age, Hyperlordosis, Communicating hydrocephalus, Scoliosi...	OMIM:617011
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Kabuki Syndrome	Ventriculomegaly, Abnormal form of the vertebral bodies, Failure to thrive, Obesity, Butterfly ve...	ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Hajdu-Cheney Syndrome	Failure to thrive, Tall lumbar vertebral bodies, Biconcave vertebral bodies, Kyphoscoliosis, Shor...	OMIM:102500
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Igg4-Related Aortitis	Low back pain, Weight loss	ORPHA:449400
Takayasu Arteritis	Weight loss	ORPHA:3287
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Lateral ventricle dilatation, Progeroid facial appearance, Generalized lipod...	OMIM:614098
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Hydrocephalus, Hemivertebrae, Vertebral fusion,...	ORPHA:377
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short neck, Hydrocephalus, Small for gestational age, Dandy-Walker malformation	OMIM:257300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis	OMIM:223900
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ...	ORPHA:268810
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Pituitary Adenoma 4, Acth-Secreting	Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compression fracture, Kyphosis	OMIM:219090
3M Syndrome	Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:2616
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Increased connective tissue, Recurrent lower respiratory tract infections, Flexion contracture, A...	ORPHA:258
Walker-Warburg Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:899
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis	ORPHA:3427
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele, Failure to thrive	ORPHA:974
Lujo Hemorrhagic Fever	Purpura, Atelectasis, Ecchymosis	ORPHA:319213
Marden-Walker Syndrome	Short neck, Scoliosis, Kyphosis, Dandy-Walker malformation	OMIM:248700
Hereditary Late-Onset Parkinson Disease	Depression, Bradykinesia, Apathy, Weight loss	ORPHA:411602
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Umbilical hernia	ORPHA:1519
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele	ORPHA:3186
Mucopolysaccharidosis Type 1	Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies, Spinal canal stenosis	ORPHA:579
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hydrocephalus	OMIM:614969
Joubert Syndrome 2	Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele, Failure to thrive	OMIM:608091
Gm1-Gangliosidosis, Type I	Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis	OMIM:230500
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Koolen-De Vries Syndrome	Ventriculomegaly, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis	ORPHA:96169
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Ventriculomegaly, Hypoplasia of the odontoid process, Cervical spinal can...	ORPHA:508533
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
X-Linked Agammaglobulinemia	Weight loss, Failure to thrive	ORPHA:47
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio...	OMIM:610655
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Scoliosis, Hydrocephalus	OMIM:618590
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Death in childhood	OMIM:619847
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Peho Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:2836
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, ...	ORPHA:261318
Glycerol Kinase Deficiency	Lethargy, Small for gestational age	OMIM:307030
Apert Syndrome	Cervical C5/C6 vertebrae fusion, Ventriculomegaly, Hydrocephalus, Vertebral segmentation defect	ORPHA:87
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Leishmaniasis	Weight loss	ORPHA:507
Wild Type Attr Amyloidosis	Weight loss, Spinal canal stenosis	ORPHA:330001
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Kaposi Sarcoma	Weight loss	ORPHA:33276
Aicardi-Goutieres Syndrome 9	Weight loss, Scoliosis, Lateral ventricle dilatation, Failure to thrive	OMIM:619487
Trisomy 13	Scoliosis, Kyphosis	ORPHA:3378
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture	OMIM:617239
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle	OMIM:615574
Cardiofaciocutaneous Syndrome 1	Short neck, Scoliosis, Hydrocephalus, Failure to thrive	OMIM:115150
Glycine Encephalopathy	Lethargy	ORPHA:407
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Thoracic scoliosis, Lateral ventricle dilatation, Kyphoscoliosis	ORPHA:300570
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Lowry-Maclean Syndrome	Hydrocephalus	ORPHA:2409
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Failure to thrive	ORPHA:35107
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Bullous Pemphigoid	Weight loss	ORPHA:703
Cog5-Cdg	Joint contracture of the hand, Premature skin wrinkling, Lateral ventricle dilatation, Camptodact...	ORPHA:263487
Diamond-Blackfan Anemia	Lethargy, Short neck, Small for gestational age	ORPHA:124
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly, Scoliosis, Kyphosis	ORPHA:261250
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Weaver Syndrome	Joint contracture of the hand, Ventriculomegaly, Lateral ventricle dilatation, Umbilical hernia, ...	OMIM:277590
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Dermatomyositis	Cellulitis, Erythema, Chondrocalcinosis, Shawl sign, V-sign, Cutaneous photosensitivity, Lung ade...	ORPHA:221
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Scoliosis, Kyphosis	OMIM:616449
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Short neck, Scoliosis, Hydrocephalus	ORPHA:1340
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:1812
Unilateral Polymicrogyria	Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Abnormally ossified vertebrae	ORPHA:3301
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hyperlordosis, Overweight, Scoliosis, Kyphosis	ORPHA:763
Pallister-Killian Syndrome	Ventriculomegaly, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Inguinal hernia, Congenital...	OMIM:601803
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Kyphosis	OMIM:617061
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
2P15P16.1 Microdeletion Syndrome	Ventriculomegaly, Scoliosis, Kyphosis, Failure to thrive	ORPHA:261349
Mend Syndrome	Failure to thrive, Sacral dimple, Hydrocephalus, Kyphosis, Dandy-Walker malformation	ORPHA:401973
Oculocerebrorenal Syndrome Of Lowe	Ventriculomegaly, Atypical scarring of skin, Atelectasis, Umbilical hernia, Abnormal dental ename...	ORPHA:534
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Recurrent pneumonia, Pleural effusion, Atelectasis	OMIM:306400
Polyarteritis Nodosa	Weight loss	ORPHA:767
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Proteus Syndrome	Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis	ORPHA:744
Mend Syndrome	Failure to thrive, Sacral dimple, Hydrocephalus, Kyphosis, Dandy-Walker malformation	OMIM:300960
Charge Syndrome	Umbilical hernia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,...	OMIM:214800
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Classical Ehlers-Danlos Syndrome	Cigarette-paper scars, Poor wound healing, Bruising susceptibility, Umbilical hernia, Atrophic sc...	ORPHA:287
Campomelic Dysplasia	Ventriculomegaly, Short neck, Poorly ossified cervical vertebrae, Scoliosis, Kyphosis	ORPHA:140
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Platyspondyly, Short neck, Scoliosis, Hydrocephalus	OMIM:245600
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Inguinal hernia, Congenital di...	OMIM:614437
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Scoliosis, Occipital encephalocele	ORPHA:1454
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Hydrocephalus, S...	ORPHA:3042
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:958
Nephroblastoma	Weight loss	ORPHA:654
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
15Q Overgrowth Syndrome	Abnormal coccyx morphology, Scoliosis, Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Colpocephaly, Agenesis o...	OMIM:617260
Cousin Syndrome	Hydranencephaly, Prominent protruding coccyx, Short neck, Hydrocephalus, Anterior rounding of ver...	OMIM:260660
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Slender build, Lumbar hyperlordosis, Large for gestational age, Kyphoscoliosis,...	ORPHA:457359
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wrinkling, Emphysema, Inguina...	ORPHA:90348
Coffin-Lowry Syndrome	Kyphosis, Ventriculomegaly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:192
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Short neck, Communicating hydrocephalus, Hemivertebrae	ORPHA:1780
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Campomelic Dysplasia	Cervical kyphosis, Hypoplastic cervical vertebrae, Spinal dysraphism, Failure to thrive, Kyphosco...	OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:614643
Hajdu-Cheney Syndrome	Failure to thrive, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Hydr...	ORPHA:955
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Abnormal form of the vertebral bodies, Failure to thrive, Communicating hydroce...	ORPHA:2462
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:181000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Lumbar kyphosis, Short neck, Hydrocephalus, Thoracic kyphosis	ORPHA:505248
Kufor-Rakeb Syndrome	Lethargy, Bradykinesia, Apathy	ORPHA:306674
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Hydrocephalus, Sacral dimple	OMIM:613603
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Occipital meningocele, Short neck, Hydrocephalus, Anencephaly	OMIM:616546
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Failure to thrive, Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2461
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Failure to thrive	OMIM:602398
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Small for gestational age, Cervical spinal canal stenosis, Slender build, Spond...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Small for gestational age, Cervical spinal canal stenosis, Slender build, Spond...	ORPHA:363958
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Obesity, Scoliosis, Kyphosis	OMIM:618493
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Extra-axial cerebrospinal fluid accumulation, Scoliosis, Kyphosis, Decreased body weight	OMIM:619005
Cockayne Syndrome Type 2	Scoliosis, Kyphosis	ORPHA:90322
Celiac Disease, Susceptibility To, 1	Depression, Weight loss, Failure to thrive	OMIM:212750
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Okamoto Syndrome	Omphalocele	ORPHA:2729
22Q11.2 Deletion Syndrome	Atelectasis, Umbilical hernia, Abnormal dental enamel morphology, Abnormal lung lobation, Inguina...	ORPHA:567
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Orofaciodigital Syndrome Ii	Scoliosis, Hydrocephalus	OMIM:252100
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive	ORPHA:95427
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Obesity, Short neck, Hydrocephalus, Hemivertebrae, Sacral dimple	ORPHA:96121
Neonatal Marfan Syndrome	Emphysema, Flexion contracture, Lipoatrophy, Hypoxemia	ORPHA:284979
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Aicardi-Goutières Syndrome	Ventriculomegaly, Cutis marmorata, Multiple joint contractures, Prolonged neonatal jaundice, Acro...	ORPHA:51
Shprintzen-Goldberg Craniosynostosis Syndrome	C1-C2 vertebral abnormality, Scoliosis, Hydrocephalus	OMIM:182212
Fructose Intolerance, Hereditary	Lethargy, Failure to thrive	OMIM:229600
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Congenital Heart Defects And Skeletal Malformations Syndrome	Scoliosis, Kyphosis, Failure to thrive	OMIM:617602
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Ventriculomegaly, Prominent protruding coccyx, Short neck, Prominent coccyx, Scoliosis, Kyphosis,...	OMIM:300966
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Kyphosis, Failure to thrive	OMIM:617527
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
8P23.1 Microdeletion Syndrome	Short neck, Weight loss, Obesity	ORPHA:251071
Plaa-Associated Neurodevelopmental Disorder	Ventriculomegaly, Kyphosis, Failure to thrive	ORPHA:521426
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Beta-Ketothiolase Deficiency	Apathy, Weight loss	ORPHA:134
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Yao Syndrome	Weight loss	OMIM:617321
Multiple Endocrine Neoplasia Type 1	Lethargy, Depression, Weight loss	ORPHA:652
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Pulmonary hypoplasia	OMIM:619708
Jacobsen Syndrome	Short neck, Holoprosencephaly, Hydrocephalus, Failure to thrive	OMIM:147791
Prader-Willi Syndrome	Ventriculomegaly, Class III obesity, Failure to thrive in infancy, Obesity, Abdominal obesity, Sc...	OMIM:176270
Noonan Syndrome 14	Short neck, Kyphosis, Lateral ventricle dilatation	OMIM:619745
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Kyphosis	ORPHA:88628
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Depression, Failure to thrive, Obesity, Back pain, Decreased body weight, Abnor...	OMIM:619475
Peripheral Primitive Neuroectodermal Tumor	Abnormal thoracic spine morphology, Weight loss, Back pain	ORPHA:370348
Opitz-Kaveggia Syndrome	Short neck, Lumbar hyperlordosis, Hydrocephalus, Sacral dimple	OMIM:305450
Zygomycosis	Cellulitis, Atelectasis, Fasciitis, Pleural effusion, Pneumothorax, Acute infectious pneumonia	ORPHA:73263
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Lysinuric Protein Intolerance	Lethargy, Failure to thrive	ORPHA:470
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hydrocephalus, Stillbirth	OMIM:259720
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Norrie Disease	Cachexia, Scoliosis, Failure to thrive	ORPHA:649
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplastic coccygeal vertebrae, Hydrocephalus, Failure to thrive	OMIM:619512
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Raine Syndrome	Short neck, Hydrocephalus, Neonatal death	OMIM:259775
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis, Failure to thrive	ORPHA:476126
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Lateral ventricle dilatation	ORPHA:2148
Congenital Tufting Enteropathy	Weight loss, Failure to thrive	ORPHA:92050
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Holoprosencephaly, Hydrocephalus	OMIM:612651
Fatal Familial Insomnia	Weight loss	OMIM:600072
Hurler-Scheie Syndrome	Scoliosis, Kyphosis	OMIM:607015
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Rheumatoid Arthritis	Weight loss	OMIM:180300
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Loeffler Endocarditis	Weight loss	ORPHA:75566
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Depression, Weight loss	OMIM:301310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Kyphosis, Failure to thrive, Abnormality of the cervical spine, Scoliosis, Smal...	ORPHA:464311
Osteogenesis Imperfecta	Ventriculomegaly, Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bo...	ORPHA:666
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis	ORPHA:251014
Neuroblastoma, Susceptibility To, 1	Weight loss, Failure to thrive	OMIM:256700
Cohen Syndrome	Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis	ORPHA:193
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis	OMIM:162300
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis	OMIM:211530
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Kyphosis, Failure to thrive	OMIM:212065
Giant Cell Arteritis	Depression, Weight loss	ORPHA:397
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus pne...	ORPHA:48435
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord...	OMIM:618019
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Emphysema, Death in infancy, Camptodactyly, Flexion contracture	OMIM:224690
Ménétrier Disease	Weight loss	ORPHA:2494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf...	OMIM:236670
Mucolipidosis Iii Alpha/Beta	Kyphosis, Scoliosis, Spondylolisthesis	OMIM:252600
Dubowitz Syndrome	Spina bifida occulta, Scoliosis, Hydrocephalus, Sacral dimple	ORPHA:235
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:2479
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:123790
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
Fraser Syndrome 3	Hydrocephalus, Stillbirth	OMIM:617667
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Pitt-Hopkins Syndrome	Hiatus hernia, Acrocyanosis	ORPHA:2896
Coffin-Lowry Syndrome	Ventriculomegaly, Cutis marmorata, Inguinal hernia, Uterine prolapse, Acrocyanosis	OMIM:303600
Marburg Hemorrhagic Fever	Lethargy, Back pain	ORPHA:99826
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:581
Stromme Syndrome	Hydrocephalus, Stillbirth	OMIM:243605
Cystic Echinococcosis	Weight loss, Abnormality of the vertebral column	ORPHA:400
Familial Colorectal Cancer Type X	Depression, Weight loss	ORPHA:440437
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Dyrk1A-Related Intellectual Disability Syndrome	Ventriculomegaly, Kyphosis, Failure to thrive, Abnormality of the cervical spine, Scoliosis, Smal...	ORPHA:464306
Micro Syndrome	Scoliosis, Kyphosis	ORPHA:2510
Multiple Pterygium-Malignant Hyperthermia Syndrome	Scoliosis, Kyphosis	ORPHA:2215
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive	OMIM:239000
Cerebrooculonasal Syndrome	Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation	OMIM:605627
Coccidioidomycosis	Increased CSF protein concentration, Abnormality of the vertebral column, Hypoglycorrhachia, CSF ...	ORPHA:228123
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Reduced subcutaneous adipose tissue, Pneumothorax, Campto...	OMIM:154700
Nocardiosis	Cellulitis, Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis	ORPHA:31204
Pneumocystosis	Weight loss	ORPHA:723
Felty Syndrome	Weight loss	ORPHA:47612
Polymyositis	Weight loss	ORPHA:732
Cowden Syndrome 5	Scoliosis, Kyphosis	OMIM:615108
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Scoliosis, Hydrocephalus	ORPHA:457284
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Short Syndrome	Weight loss	ORPHA:3163
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Respiratory tract infection, Atelectasis	ORPHA:365
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal...	OMIM:615287
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Hydrocephalus	ORPHA:268249
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy	OMIM:218700
Aymé-Gripp Syndrome	Ventriculomegaly, Scoliosis, Hydrocephalus	ORPHA:1272
Apert Syndrome	Cervical C5/C6 vertebrae fusion, Ventriculomegaly, Hydrocephalus	OMIM:101200
Pineoblastoma	Lethargy	ORPHA:251909
Relapsing Polychondritis	Erythema, Purpura, Atelectasis	ORPHA:728
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus	ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis, Failure to thrive	OMIM:618050
Khan-Khan-Katsanis Syndrome	Colpocephaly, Ventriculomegaly, Corneal scarring, Joint contracture	OMIM:618460
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Scoliosis, Kyphosis, Hemivertebrae, Kyphoscoliosis	OMIM:301040
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Colpocephaly, Congenital diaphragmatic hernia, Agenesis of corpus callosum	OMIM:309801
Refractory Celiac Disease	Weight loss	ORPHA:398063
Limb Body Wall Complex	Progressive congenital scoliosis, Abnormality of the vertebral column, Myelomeningocele, Encephal...	ORPHA:2369
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Lateral ventricle dilatation, Elbow flexion contracture, Partial ag...	OMIM:210710
Dextrocardia	Hydrocephalus	ORPHA:1666
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Cowden Syndrome 6	Scoliosis, Kyphosis	OMIM:615109
Mgat2-Cdg	Scoliosis, Kyphosis, Failure to thrive	ORPHA:79329
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Premature skin wrinkling, Absence of subcutaneous fat, Cyanosis,...	ORPHA:740
Aortic Arch Interruption	Aortopulmonary window, Cyanosis	ORPHA:2299
Congenital Syphilis	Hydrocephalus, CSF pleocytosis	ORPHA:499009
Wolf-Hirschhorn Syndrome	Ventriculomegaly, Small for gestational age, Abnormal form of the vertebral bodies, Failure to th...	OMIM:194190
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre...	OMIM:259770
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Scoliosis, Hydrocephalus, Stillbirth	ORPHA:95699
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Kyphoscoliosis, Weight loss, Hyperlordosis, Scoliosis	ORPHA:2020
Hereditary Cryohydrocytosis With Reduced Stomatin	Short neck, Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Spina bifida, Meningocele, Kyphosis	ORPHA:1393
Fanconi Anemia, Complementation Group L	Hydrocephalus, Short neck, Hypoplastic sacrum	OMIM:614083
Neurofibromatosis, Type I	Aqueductal stenosis, Scoliosis, Hydrocephalus, Spina bifida	OMIM:162200
Chand Syndrome	Atelectasis	ORPHA:1401
Acrofacial Dysostosis 1, Nager Type	Abnormality of the cervical spine, Aqueductal stenosis, Scoliosis, Hydrocephalus	OMIM:154400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Flexion contracture, Lateral ventricle dilatation	OMIM:619479
Lymphoid Interstitial Pneumonia	Weight loss, Failure to thrive	ORPHA:79128
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Fabry Disease	Emphysema, Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin, Mucosal telang...	ORPHA:324
Klatskin Tumor	Weight loss	ORPHA:99978
Fanconi Anemia	Ventriculomegaly, Weight loss, Hydrocephalus, Spina bifida, Scoliosis	ORPHA:84
Mosaic Trisomy 20	Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse...	ORPHA:1724
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Inguinal hernia	OMIM:613658
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Familial Glucocorticoid Deficiency	Weight loss, Failure to thrive	ORPHA:361
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle	ORPHA:314404
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Short neck, Thoracolumbar scoliosis, Scoliosis, Kyphosis, ...	OMIM:265000
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus	OMIM:618162
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Short neck, Depression, Communicating hydrocephalus	ORPHA:309282
H Syndrome	Hydrocephalus	ORPHA:168569
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Triosephosphate Isomerase Deficiency	Kyphosis, Failure to thrive	OMIM:615512
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Depression, Weight loss	OMIM:607459
Cockayne Syndrome B	Kyphosis, Failure to thrive, Severe failure to thrive, Normal pressure hydrocephalus, Small for g...	OMIM:133540
Alveolar Echinococcosis	Abnormal vertebral morphology, Weight loss, Low back pain	ORPHA:284
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2658
Cowden Syndrome 1	Scoliosis, Kyphosis	OMIM:158350
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Fontaine Progeroid Syndrome	Platyspondyly, Failure to thrive, Neonatal death, Hydrocephalus, Scoliosis, Small for gestational...	OMIM:612289
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Hyperparathyroidism, Transient Neonatal	Ventriculomegaly, Communicating hydrocephalus	OMIM:618188
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Death in infancy, Colpocephaly, Hydrocephalus, Severe photosensitivity, P...	OMIM:270400
Fetal Akinesia Deformation Sequence 1	Short neck, Small for gestational age, Hydrocephalus, Stillbirth	OMIM:208150
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Trisomy 8P	Short neck, Dandy-Walker malformation, Hydrocephalus, Sacral dimple	ORPHA:264450
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Femoral...	OMIM:188400
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis	ORPHA:536532
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Ramon Syndrome	Scoliosis, Kyphosis, Decreased body weight	OMIM:266270
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Microphthalmia With Limb Anomalies	Hydrocephalus, Abnormal form of the vertebral bodies, Failure to thrive	ORPHA:1106
Fanconi Anemia, Complementation Group D2	Small for gestational age, Hydrocephalus	OMIM:227646
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Cyanosis, Pulmonary artery stenosis, Infracard...	ORPHA:99125
Craniopharyngioma	Obesity, Hydrocephalus	ORPHA:54595
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Scoliosis, Kyphosis, Hemivertebrae	OMIM:618223
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Distal 22Q11.2 Microduplication Syndrome	Scoliosis, Hydrocephalus, Sacral dimple	ORPHA:261337
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra...	ORPHA:280
Neurooculorenal Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus	OMIM:620305
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly, Kyphosis, Failure to thrive	OMIM:216400
Familial Pancreatic Carcinoma	Weight loss, Back pain	ORPHA:1333
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Eisenmenger Syndrome	Aortopulmonary window, Hypoxemia, Cyanosis	ORPHA:97214
Thymoma	Weight loss	ORPHA:99867
Adult-Onset Still Disease	Weight loss	ORPHA:829
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dilatation, Emphysema, Dysplast...	ORPHA:500150
Intellectual Developmental Disorder, X-Linked 112	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Bruising susceptibility, Umbilical hernia, Cystocele, Inguinal hernia,...	ORPHA:285
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Pulmonary hypoplasia	OMIM:263520
Holoprosencephaly 9	Alobar holoprosencephaly, Short neck, Hydrocephalus, Holoprosencephaly, Occipital meningocele, La...	OMIM:610829
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K...	OMIM:143095
Mucolipidosis Type Ii	Weight loss, Kyphosis	ORPHA:576
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Scarring, Pneumothorax, Abn...	ORPHA:797
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Neuroblastoma	Weight loss	ORPHA:635
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Meningioma	Hydrocephalus, Obesity, Back pain	ORPHA:2495
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight	ORPHA:2298
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Al Amyloidosis	Weight loss	ORPHA:85443
Zttk Syndrome	Ventriculomegaly, Failure to thrive, Hemivertebrae, Scoliosis, Kyphosis	OMIM:617140
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Weight loss	ORPHA:49041
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Intellectual Developmental Disorder, Autosomal Dominant 73	Lumbar hyperlordosis, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis	OMIM:620450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventriculomegaly, Kyphosis, Failure to thrive in infancy, Scoliosis, Small for gestational age, S...	ORPHA:268261
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Multiple Myeloma	Vertebral compression fracture, Weight loss	ORPHA:29073
Frank-Ter Haar Syndrome	Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Smith-Lemli-Opitz Syndrome	Ventriculomegaly, Abnormal form of the vertebral bodies, Short neck, Holoprosencephaly, Scoliosis...	ORPHA:818
Alstrom Syndrome	Obesity, Scoliosis, Kyphosis, Truncal obesity	OMIM:203800
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Hydrocephalus, Sacral dimple	ORPHA:2556
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Costello Syndrome	Ventriculomegaly, Short neck, Hydrocephalus, Failure to thrive	OMIM:218040
Autosomal Recessive Robinow Syndrome	Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:1507
Cdags Syndrome	Kyphosis	OMIM:603116
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Dandy...	ORPHA:434179
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Pancreatoblastoma	Weight loss	ORPHA:677
Rat-Bite Fever	Weight loss, Back pain	ORPHA:31205
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Weight loss	ORPHA:85408
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Short neck, Hydrocephalus, Scoliosis, Small for gestational age, Dandy-Walker ...	OMIM:264090
Cryptococcosis	Hydrocephalus	ORPHA:1546
Poland Syndrome	Encephalocele, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Sc...	ORPHA:2911
Atelis Syndrome 2	Kyphosis, Sacral dimple	OMIM:620185
Pseudoaminopterin Syndrome	Hydrocephalus, Sacrococcygeal pilonidal abnormality	ORPHA:221120
Brucellosis	Depression, Failure to thrive, Sacroiliac arthritis, Weight loss, Small for gestational age	ORPHA:1304
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Slender build, Cervical vertebral dysplasia, Kyphoscoliosis, Hypoplastic verte...	ORPHA:3455
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Failure to thrive, Decreased body weight, Hydrocephalus, Aqueductal stenosis, S...	OMIM:616462
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus	ORPHA:163979
Choreoacanthocytosis	Depression, Lateral ventricle dilatation, Self-neglect, Apathy, Weight loss, Bradykinesia	ORPHA:2388
Polycythemia Vera	Weight loss	ORPHA:729
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Scoliosis, Kyphosis	OMIM:619194
Acute Adrenal Insufficiency	Weight loss, Failure to thrive	ORPHA:95409
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Slender build, Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:300967
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Ventriculomegaly, Failure to thrive, Scoliosis, Kyphosis	OMIM:309000
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Caroli Disease	Weight loss	ORPHA:53035
Neurofibromatosis Type 1	Hydrocephalus, Scoliosis, Kyphosis	ORPHA:636
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Lateral ventricle dilatation, Inguinal hernia, Neonatal death, Jaund...	OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Scoliosis, Hyperlordosis, Kyphoscoliosis	ORPHA:363700
Gaucher Disease	Ventriculomegaly, Depression, Hydrocephalus	ORPHA:355
Familial Thrombocytosis	Weight loss	ORPHA:71493
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Q Fever	Weight loss	ORPHA:781
Loeys-Dietz Syndrome 1	Hydrocephalus, Scoliosis, Spondylolisthesis, Cervical spine instability	OMIM:609192
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
1P36 Deletion Syndrome	Ventriculomegaly, Failure to thrive, Spinal canal stenosis, Obesity, Scoliosis, Kyphosis	ORPHA:1606
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Keloids, Corneal scarring, Abnormal lateral ventricle morphology, Recurrent respirator...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Keloids, Corneal scarring, Abnormal lateral ventricle morphology, Recurrent respirator...	ORPHA:353277
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Kyphosis	ORPHA:394
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Primary Sclerosing Cholangitis	Depression, Weight loss	ORPHA:171
Castleman Disease	Weight loss	ORPHA:160
Pyomyositis	Weight loss	ORPHA:764
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Kyphoscoliosis	ORPHA:3063
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Viss Syndrome	Pulmonary artery aneurysm, Bruising susceptibility, Umbilical hernia, Emphysema, Inguinal hernia,...	OMIM:619472
Kabuki Syndrome 1	Abnormal vertebral morphology, Hydrocephalus, Scoliosis, Lateral ventricle dilatation	OMIM:147920
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Holoprosencephaly 13, X-Linked	Colpocephaly, Agenesis of corpus callosum	OMIM:301043
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Failure to thrive	ORPHA:99885
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Sotos Syndrome	Ankle flexion contracture, Ventriculomegaly, Small cell lung carcinoma, Umbilical hernia, Inguina...	ORPHA:821
Tropical Pancreatitis	Weight loss	ORPHA:103918
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Baller-Gerold Syndrome	Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Hydrocephalus	OMIM:218600
Glucagonoma	Depression, Weight loss	ORPHA:97280
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Peters-Plus Syndrome	Ventriculomegaly, Decreased body weight, Short neck, Hydrocephalus, Hemivertebrae, Scoliosis	OMIM:261540
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Erdheim-Chester Disease	Weight loss	ORPHA:35687
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Abdominal obesity	OMIM:619321
Lynch Syndrome	Depression, Weight loss	ORPHA:144
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Cowden Syndrome	Scoliosis, Kyphosis, Failure to thrive	ORPHA:201
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Obesity, Scoliosis, Lateral ventricle dilatation	OMIM:607872
Riddle Syndrome	Weight loss	ORPHA:420741
Tetrasomy 9P	Short neck, Dandy-Walker malformation, Hydrocephalus, Sacral dimple	ORPHA:3310
Peters Plus Syndrome	Ventriculomegaly, Short neck, Hydrocephalus, Spina bifida occulta, Sacral dimple	ORPHA:709
Tuberous Sclerosis Complex	Subependymal nodules, Depression, Noncommunicating hydrocephalus	ORPHA:805
Turner Syndrome Due To Structural X Chromosome Anomalies	Depression, Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Depression, Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Depression, Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Depression, Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:881
Fraser Syndrome 1	Myelomeningocele, Hydrocephalus, Encephalocele	OMIM:219000
Genitopatellar Syndrome	Knee flexion contracture, Agenesis of corpus callosum, Hip contracture, Colpocephaly, Pulmonary h...	OMIM:606170
Cockayne Syndrome Type 3	Scoliosis, Kyphosis	ORPHA:90324
Loeys-Dietz Syndrome 2	Hydrocephalus, Scoliosis, Spondylolisthesis	OMIM:610168
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Immunodeficiency 31C	Weight loss	OMIM:614162
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Yunis-Varon Syndrome	Severe failure to thrive, Hydrocephalus	ORPHA:3472
6Q Terminal Deletion Syndrome	Colpocephaly	ORPHA:75857
Coffin-Siris Syndrome 12	Scoliosis, Failure to thrive, Noncommunicating hydrocephalus	OMIM:619325
Williams Syndrome	Depression, Abnormal form of the vertebral bodies, Failure to thrive in infancy, Obesity, Vertebr...	ORPHA:904
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mild fetal ventriculomegaly, Communicating hydrocephalus, Scoliosis	OMIM:619841
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies	ORPHA:580
Aicardi-Goutieres Syndrome 7	Weight loss	OMIM:615846
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Scoliosis, Kyphosis	OMIM:208400
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Malt Lymphoma	Weight loss	ORPHA:52417
Addison Disease	Weight loss, Failure to thrive	ORPHA:85138
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Systemic Lupus Erythematosus	Depression, Weight loss	ORPHA:536
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Cystinosis, Nephropathic	Failure to thrive in infancy, Weight loss, Failure to thrive	OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus	OMIM:253280
Generalized Arterial Calcification Of Infancy	Cyanosis	ORPHA:51608
Acromegaly	Depression, Spinal canal stenosis, Kyphosis	ORPHA:963
Somatomammotropinoma	Depression, Spinal canal stenosis, Kyphosis	ORPHA:314769
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Reactive Arthritis	Weight loss	ORPHA:29207
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Ppoma	Weight loss	ORPHA:97278
African Trypanosomiasis	Ventriculomegaly, Apathy, Myelopathy, Weight loss	ORPHA:3385
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion	Depression, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Vertebral com...	ORPHA:99889
Granulomatosis With Polyangiitis	Weight loss	ORPHA:900
Simpson-Golabi-Behmel Syndrome, Type 1	Scoliosis, Hydrocephalus, Six lumbar vertebrae, Vertebral segmentation defect	OMIM:312870
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Vipoma	Weight loss	ORPHA:97282
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Grfoma	Weight loss	ORPHA:97261
Coffin-Siris Syndrome 1	Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Dandy-Walker malformation	OMIM:135900
Townes-Brocks Syndrome 1	Holoprosencephaly, Hydrocephalus, Small for gestational age	OMIM:107480
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Wrinkly Skin Syndrome	Scoliosis, Kyphosis, Failure to thrive	OMIM:278250
Behçet Disease	Weight loss	ORPHA:117
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Roberts-Sc Phocomelia Syndrome	Short neck, Hydrocephalus, Frontal encephalocele, Stillbirth	OMIM:268300
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive	ORPHA:90794
Craniofacial Microsomia 1	Block vertebrae, Occipital encephalocele, Hydrocephalus, Hemivertebrae, Scoliosis, Vertebral hypo...	OMIM:164210
Primrose Syndrome	Ventriculomegaly, Kyphosis, Truncal obesity, Posterior scalloping of vertebral bodies, Irregular ...	OMIM:259050
Kikuchi-Fujimoto Disease	Weight loss	ORPHA:50918
17Q11 Microdeletion Syndrome	Abnormality of the vertebral column, Scoliosis, Kyphosis, Beaking of vertebral bodies T12-L3	ORPHA:97685
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Branchiooculofacial Syndrome	Short neck, Kyphosis, Hyperlordosis	OMIM:113620
Yunis-Varon Syndrome	Kyphosis, Failure to thrive in infancy, Anterior concavity of thoracic vertebrae, Severe failure ...	OMIM:216340
Alström Syndrome	Obesity, Thoracic scoliosis, Lumbar scoliosis, Truncal obesity, Kyphosis	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 Atxn1l

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 Atxn1l.

No publications found that use IMPC mice or data for Atxn1l.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Atxn1l^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Atxn1l^{tm436506(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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