Not currently registered for phenotyping at IMPC

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

Gene Summary

ataxin 1-like
C330011L24Rik,  ENSMUSG00000069895,  D8Ertd587e,  Boat

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly 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
Hydrocephalus, Death in infancy, Omphalocele OMIM:258320
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly 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
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Lethargy ORPHA:26
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Abnormal lung lobation, Hydrocephalus, Omphalocele ORPHA:945
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Omphalocele ORPHA:660
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy ORPHA:79283
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Alexander Disease Type I
Hydrocephalus, Cachexia, Scoliosis, Failure to thrive ORPHA:363717
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Bilateral trilobed lung, 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
Failure to thrive, Lethargy ORPHA:622
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle 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
Recurrent lower respiratory tract infections, Inguinal hernia, Recurrent upper respiratory tract ... OMIM:300209
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele ORPHA:2141
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Abnormal vertebral morphology OMIM:618709
Glut1 Deficiency Syndrome 1
Hypoglycorrhachia, Lethargy, Paroxysmal lethargy OMIM:606777
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Small for gestational age, Mild fetal ventriculomegaly, Lethargy OMIM:610498
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Apathy ORPHA:99966
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Agenesis of corpus callosum OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Increased CSF lactate, Cachexia, Failure to thrive, Weight loss OMIM:612075
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Lethargy, Depression ORPHA:73256
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Decreased response to growth hormone stimul... ORPHA:1263
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis ORPHA:157973
Hydrocephalus OMIM:148800
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly 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
Small for gestational age, Lethargy 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
Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Hon... ORPHA:2032
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Hyperlordosis, Kyphosis OMIM:303350
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis ORPHA:2471
Central Diabetes Insipidus
Depression, Failure to thrive, Lethargy, Weight loss ORPHA:178029
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... OMIM:263000
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Lethargy OMIM:274270
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Death in infancy, Neonatal death, Interlobular septal th... OMIM:265120
Spinocerebellar Ataxia 48
Depression, Cachexia OMIM:618093
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Hypoxemia, Pneumonia, Recurrent respirator... OMIM:610910
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Depression, Scoliosis, Bipolar affective disorder, Kyphosis, Obesity ORPHA:276630
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele OMIM:601163
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Hypoxemia, Interlobu... ORPHA:2302
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hydrocephalus, Omphalocele, Camptodactyly of toe, Agenesis of corpus callosum, U... OMIM:175700
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Cyanosis ORPHA:70587
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Moynahan Syndrome
Cachexia ORPHA:2574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Dihydrolipoamide Dehydrogenase Deficiency
Increased CSF valine concentration, Increased CSF isoleucine concentration, Lethargy, Increased C... OMIM:246900
Huntington Disease-Like 2
Bradykinesia, Depression, Inertia, Weight loss, Apathy OMIM:606438
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Lethargy ORPHA:26792
Idiopathic Intracranial Hypertension
Depression, Back pain, Obesity, Lethargy ORPHA:238624
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Pulmonary Blastoma
Weight loss ORPHA:64741
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Ventriculomegaly, Lethargy OMIM:618228
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Bronchiectasis, Hypoxemia, Interlobular septal thickening, Pulmona... ORPHA:79126
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Abnormal vertebral morphology, Lethargy, Abnormality of the vertebral column OMIM:250620
Chronic Hiccup
Depression, Weight loss ORPHA:396
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Omphalocele OMIM:275100
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Lethargy ORPHA:28
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Pulmonary hypoplasia, Omphalocele ORPHA:3035
Glutaric Acidemia Type 3
Failure to thrive, Sacral dimple, Lethargy ORPHA:35706
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Flynn-Aird Syndrome
Cachexia, Scoliosis, Kyphosis ORPHA:2047
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia ORPHA:70589
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, 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
Hypoglycorrhachia, Lethargy ORPHA:71277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Ventriculomegaly, Small for gestational age, Lethargy OMIM:312170
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Hypoxemia, Respiratory tract infection, ... ORPHA:79127
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Hypercalcemia, Infantile, 1
Failure to thrive, Lethargy, Weight loss OMIM:143880
Glycine Encephalopathy 1
Lethargy OMIM:605899
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Ventriculomegaly, Kyphosis ORPHA:319199
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum, Omphalocele ORPHA:93267
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short neck, Scoliosis, Failure to thrive in infancy, Cachexia 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
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Pontocerebellar Hypoplasia, Type 6
Increased CSF lactate, Failure to thrive, Lethargy OMIM:611523
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia, Flexi... OMIM:263210
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Christianson Syndrome
Cachexia, Ventriculomegaly ORPHA:85278
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus, Omphalocele, Pulmonary hypoplasia OMIM:313850
Fried Syndrome
Hydrocephalus, Scoliosis ORPHA:85335
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Hydrocephalus, Scoliosis, Thoracic kyphoscoliosis, Back pain... OMIM:613330
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Scoliosis OMIM:300884
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Mitochondrial Complex I Deficiency, Nuclear Type 5
Increased CSF lactate, Failure to thrive, Lethargy OMIM:618226
Breath-Holding Spells
Cyanosis OMIM:607578
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Failure to thrive in infancy, Kyphosis ORPHA:702
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased CSF lactate, Lethargy OMIM:618225
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Pulmonary sequestration, Emphysema ORPHA:122
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Lethargy OMIM:613561
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive ORPHA:250994
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis 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
Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration ORPHA:101150
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ventriculomegaly ORPHA:1933
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Distal Duplication 15Q
Camptodactyly of finger, Omphalocele ORPHA:1707
Severe Canavan Disease
Lethargy ORPHA:314911
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... 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 hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia, Omphalocele OMIM:618316
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Lethargy ORPHA:42
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Emphysema OMIM:618307
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Scoliosis, Failure to thrive, Ventriculomegaly, Lethargy ORPHA:2169
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Pontocerebellar Hypoplasia, Type 12
Joint contracture, Lateral ventricle dilatation, Death in infancy OMIM:618266
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the ski... OMIM:620321
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Abnormal vertebral morphology, Abnormality of the vertebral colu... OMIM:276950
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
Abnormal lateral ventricle morphology ORPHA:324422
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Spinal rigidity, Kyphosis OMIM:618323
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:1834
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Obesity, Kyphosis OMIM:616756
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Sc... ORPHA:2635
Alexander Disease
Hydrocephalus, Apathy, Increased CSF protein concentration OMIM:203450
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Hydrocephalus OMIM:300886
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Neonatal death, Kyphosis OMIM:618237
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased CSF lactate, Increased CSF glycine concentration, Failure to thrive, Neonatal death, Le... OMIM:605711
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
Failure to thrive, Lethargy OMIM:236270
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Lethargy OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Lateral ventricle dilatation... ORPHA:284417
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Spinal rigidity, Hyperlordosis, Kyphosis OMIM:617404
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Kyphosis OMIM:620007
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Camptodactyly of finger, Agenesis of... ORPHA:261344
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Increased CSF protein concentration, Weight loss ORPHA:298
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short neck, Scoliosis, Severe failure to thrive, Cachexia ORPHA:371364
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Sandhoff Disease
Failure to thrive, Kyphosis ORPHA:796
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Juvenile Huntington Disease
Depression, Ventriculomegaly, Weight loss, Bradykinesia ORPHA:248111
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Atelectasis, Elevated bronchoalveolar lava... OMIM:610978
Tetrasomy 12P
Short neck, Cachexia ORPHA:884
Glutamine Deficiency, Congenital
Subependymal cysts, Camptodactyly, Neonatal death, Flexion contracture, Lateral ventricle dilatat... OMIM:610015
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Idiopathic Achalasia
Weight loss ORPHA:930
Kagami-Ogata Syndrome
Inguinal hernia, Diastasis recti, Omphalocele, Pulmonary hypoplasia, Flexion contracture OMIM:608149
Riboflavin Deficiency
Lethargy OMIM:615026
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Omphalocele OMIM:617895
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Lethargy ORPHA:324575
Perry Syndrome
Depression, Apathy, Weight loss ORPHA:178509
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion ORPHA:2414
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Lethargy OMIM:617105
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnormal pulmonary vein morphology, Pleural... ORPHA:199241
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Renpenning Syndrome
Cachexia ORPHA:3242
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short neck, Obesity ORPHA:2183
Rett Syndrome
Cachexia, Scoliosis, Kyphosis OMIM:312750
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Hypoxemia, Pulmonary hypoplasia, Recurrent respiratory infections, Abnorm... ORPHA:2257
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Elbow flexion contracture, Pulmonary artery atresia, Omphalocele... ORPHA:1692
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in childhood, Death in infancy, Omphalocele, Enamel hypoplasia, Congenital pulmonary airway... OMIM:243150
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Scoliosis, Kyphosis ORPHA:2181
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Aredyld Syndrome
Cachexia, Scoliosis ORPHA:1133
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Neonatal death OMIM:618186
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Kyphosis, Obesity, Scheuermann-like vertebral changes OMIM:301900
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, Acrocyanosis ORPHA:896
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Omphalocele ORPHA:2736
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Hydrocephalus, Omphalocele ORPHA:1335
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Lethargy 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, Chronic bronchitis, Panacinar emphysema OMIM:613490
Fetal Akinesia Deformation Sequence 4
Short neck, Neonatal death, Kyphosis OMIM:618393
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Lethargy ORPHA:2394
Hyperphenylalaninemia, Bh4-Deficient, B
Increased CSF phenylalanine concentration, Lethargy OMIM:233910
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Lethargy ORPHA:79312
Short-Rib Thoracic Dysplasia 12
Atelectasis, Inguinal hernia, Hydrocephalus, Omphalocele, Neonatal death, Pulmonary hypoplasia OMIM:269860
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Diastasis recti, Omphalocele ORPHA:254534
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Erythema, Inguinal her... ORPHA:2092
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Lethargy ORPHA:2089
Temple Syndrome
Hydrocephalus, Scoliosis, Small for gestational age, Obesity ORPHA:254516
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Lethargy ORPHA:276575
Winchester Syndrome
Kyphosis OMIM:277950
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Increased CSF lactate, Failure to thrive, Lethargy OMIM:615838
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Lethargy ORPHA:276580
Meckel Syndrome, Type 2
Dandy-Walker malformation, Omphalocele OMIM:603194
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Hyp... ORPHA:2902
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Intraalveolar phospholipid accumulation, Death in adolescence, Death in infan... OMIM:618042
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Depression OMIM:248000
Fryns Syndrome
Congenital diaphragmatic hernia, Dandy-Walker malformation, Omphalocele, Pulmonary hypoplasia, Ag... ORPHA:2059
Caudal Duplication
Omphalocele ORPHA:1756
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Cyanosis ORPHA:1302
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Truncal obesity, Kyphosis ORPHA:2429
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Citrullinemia Type I
Failure to thrive, Lethargy ORPHA:247525
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Scoliosis, Kyphosis, Obesity, Short neck ORPHA:85293
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
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
Holocarboxylase Synthetase Deficiency
Lethargy, Weight loss ORPHA:79242
Lymphatic Malformation 12
Pleural thickening, Inguinal hernia, Death in adolescence, Recurrent upper and lower respiratory ... OMIM:620014
Constricting Bands, Congenital
Abnormal lung lobation, Bladder exstrophy, Gastroschisis, Omphalocele OMIM:217100
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Platyspondyly, Ventriculomegaly OMIM:230650
Tetrasomy 5P
Hydrocephalus, Pulmonary hypoplasia, Aplasia/Hypoplasia of the abdominal wall musculature, Perica... ORPHA:3309
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Agenesis of corpus callosum, Umbilical hernia, Part... OMIM:222448
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Lethargy OMIM:238970
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Lethargy OMIM:250940
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Lethargy OMIM:611590
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Depression ORPHA:275543
Whipple Disease
Hydrocephalus, Cachexia, Depression ORPHA:3452
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Lethargy OMIM:237300
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Failure to thrive, Irregular vertebral endplates, Platyspondyly OMIM:234250
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short neck, Sacral dimple ORPHA:1516
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Xfe Progeroid Syndrome
Cachexia, Scoliosis, Failure to thrive, Ventriculomegaly OMIM:610965
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Scoliosis, Lethargy OMIM:201470
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Omphalocele OMIM:145420
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Susac Syndrome
Apathy, Lethargy ORPHA:838
Chiari Malformation Type Ii
Hydrocephalus, Cyanosis, Agenesis of corpus callosum OMIM:207950
Global Developmental Delay With Or Without Impaired Intellectual Development
Pulmonary sequestration, Lateral ventricle dilatation OMIM:618330
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Meningococcal Meningitis
Hypoglycorrhachia, CSF pleocytosis, Increased CSF protein concentration, Lethargy ORPHA:33475
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 11
Increased CSF lactate, Stillbirth, Neonatal death, Lethargy OMIM:614922
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Lethargy ORPHA:927
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Slender build OMIM:300831
Dihydropyrimidinase Deficiency
Failure to thrive, Elevated CSF dihydrouracil concentration, Lethargy OMIM:222748
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Temple Syndrome
Hydrocephalus, Scoliosis, Obesity, Overweight, Truncal obesity, Small for gestational age OMIM:616222
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure to thrive, Colp... OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Scoliosis, Kyphosis 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, Neonatal death, Kyphosis OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Ogden Syndrome
Ventriculomegaly, Scoliosis, Lethargy ORPHA:276432
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Omphalocele, Flexion ... ORPHA:254528
Carnitine Deficiency, Systemic Primary
Failure to thrive, Lethargy OMIM:212140
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Hydrocephalus, Respiratory tract infection, Recurrent sino... ORPHA:244
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly ORPHA:858
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebrae, Obesity ORPHA:2180
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Scoliosis OMIM:618577
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Congenital Heart Block
Cyanosis, Pleural effusion 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
Cachexia, Scoliosis, Failure to thrive in infancy, Obesity ORPHA:813
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Kyphosis, Holoprosencephaly, Platyspondyly, Ventriculomegaly ORPHA:93274
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Alpha-1-Antitrypsin Deficiency
Jaundice, Panniculitis, Emphysema, Bronchitis, Bronchiectasis ORPHA:60
Cutis Laxa, Autosomal Dominant 1
Emphysema, Inguinal hernia, Prematurely aged appearance, Uterine prolapse, Bronchiectasis, Poor w... OMIM:123700
Wolman Disease
Cachexia ORPHA:75233
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Increased CSF glycine concentration, Lethargy OMIM:614299
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Melnick-Needles Syndrome
Recurrent respiratory infections, Omphalocele ORPHA:2484
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Scoliosis ORPHA:300605
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Lethargy 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
Stillbirth, Dandy-Walker malformation, Pulmonary hypoplasia, Omphalocele OMIM:616300
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Small for gestational age, Kyphosis OMIM:618484
Developmental And Epileptic Encephalopathy 89
Death in childhood, Flexion contracture, Neonatal death, Omphalocele OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss ORPHA:77297
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Cyanosis, Lateral ventricle dilatation ORPHA:488627
6P22 Microdeletion Syndrome
Hydrocephalus, Short neck ORPHA:251046
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Isaacs Syndrome
Weight loss ORPHA:84142
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Hydrocephalus, Scoliosis, Hemivertebr... OMIM:613686
Classic Galactosemia
Depression, Lethargy ORPHA:79239
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Dandy-Walker malformation, Omphalocele, Recurre... 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 pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Martsolf Syndrome 2
Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation OMIM:619420
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Scoliosis, Abnormality of the cervical spine, Kyphosis ORPHA:48431
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:615290
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, Aplasia/Hypoplasia of the lungs, Omphalocele ORPHA:887
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Amyotrophic Lateral Sclerosis
Depression, Cachexia ORPHA:803
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Carpenter Syndrome 1
Joint contracture of the hand, Omphalocele, Camptodactyly, Umbilical hernia OMIM:201000
Fibrochondrogenesis 1
Stillbirth, Omphalocele, Camptodactyly, Joint contracture of the hand OMIM:228520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Choroid plexus cyst, Pleural effusion, Diastasis recti, Pulmonary artery ... OMIM:265380
Infantile Krabbe Disease
Cachexia, Failure to thrive, Increased CSF protein concentration ORPHA:206436
Propionic Acidemia
Failure to thrive, Lethargy OMIM:606054
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele OMIM:601927
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Inguinal hernia, Poor wound healing, Umbilical hernia... OMIM:219100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Omphalocele, Hydrocephalus, Umbilical hernia ORPHA:2166
Thanatophoric Dysplasia
Hydrocephalus, Kyphosis, Abnormal sacroiliac joint morphology, Platyspondyly, Ventriculomegaly ORPHA:2655
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Camptodactyly, Omphalocele, Recurrent aspiration pneumonia, Abnormality of the a... OMIM:247200
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Camptodactyly, Omphalocele OMIM:618529
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Ciliary Dyskinesia, Primary, 1
Atelectasis, Recurrent bronchitis, Communicating hydrocephalus, Bronchiectasis, Pneumonia OMIM:244400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Lethargy OMIM:210200
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia, Omphalocele OMIM:617022
Cervical spinal canal stenosis, Hydrocephalus, Kyphosis, Spinal canal stenosis, Obesity, Thoracol... ORPHA:15
Isovaleric Acidemia
Lethargy OMIM:243500
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Failure to thrive, Obesity, Abdominal obesity, Ventriculomegaly, Lethargy ORPHA:398079
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Lethargy OMIM:237310
Marshall-Smith Syndrome
Death in childhood, Hydrocephalus, Aspiration pneumonia, Omphalocele, Recurrent aspiration pneumo... OMIM:602535
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Scoliosis ORPHA:99947
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Failure to thrive, Small for gestational age, Lethargy OMIM:607143
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Overweight, Lethargy 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
Congenital diaphragmatic hernia, Inguinal hernia, Omphalocele, Umbilical hernia, Ventriculomegaly OMIM:618454
Acrocephalopolydactylous Dysplasia
Omphalocele, Pulmonary hypoplasia, Extrapulmonary lobar sequestration OMIM:200995
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Bresek Syndrome
Hydrocephalus, Hemivertebrae, Scoliosis, Neonatal death ORPHA:85284
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Obesity, Kyphosis OMIM:618124
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly, Lethargy ORPHA:395
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
Hydrocephalus, Short neck, Myelomeningocele, Punctate vertebral calcifications ORPHA:1914
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, Agenesis of corpus callosum, Omphalocele OMIM:264480
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Neurodegeneration And Seizures Due To Copper Transport Defect
Increased CSF lactate, Ventriculomegaly, Decreased CSF copper concentration, Lethargy OMIM:620306
Pagod Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary artery hypoplasia, Death in infancy, Pulm... ORPHA:991
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Slender build 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
Hydrocephalus, Camptodactyly of finger, Pulmonary hypoplasia, Omphalocele ORPHA:90652
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Inguinal hernia, Morgagni diaphragmatic hernia, Death... OMIM:613177
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Increased body weight, Kyphosis, Failure to thrive, Abdominal obesity, Ventriculomegal... 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
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level OMIM:250790
Mitochondrial Trifunctional Protein Deficiency 1
Failure to thrive, Small for gestational age, Lethargy OMIM:609015
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Death in infancy, Omphalocele ORPHA:2241
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Lethargy ORPHA:263455
Lethargy ORPHA:99745
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Esophageal Atresia
Bronchitis, Omphalocele, Pulmonary hypoplasia, Recurrent respiratory infections, Cyanosis ORPHA:1199
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Infantile Sialic Acid Storage Disease
Hydrocephalus, Failure to thrive OMIM:269920
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Cyanosis ORPHA:444013
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Bronchitis, Hypoxemia, Interlobular septal thickening, Respirat... ORPHA:60025
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Small for gestational age, Kyphosis OMIM:615834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Ventriculomegaly, Vertebral fusion OMIM:606612
Huntington Disease-Like 1
Depression, Ventriculomegaly, Weight loss, Bradykinesia ORPHA:157941
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Cachexia ORPHA:220295
Schwartz-Jampel Syndrome
Spinal rigidity, Cachexia, Scoliosis, Hyperlordosis, Decreased body weight, Abnormally ossified v... ORPHA:800
Fryns Syndrome
Stillbirth, Chylothorax, Dandy-Walker malformation, Aplasia of the left hemidiaphragm, Camptodact... 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
Hydrocephalus, Failure to thrive, Increased CSF protein concentration 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, Kyphosis, Alobar holoprosencephaly OMIM:615433
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Kyphosis, Thoracic scoliosis OMIM:603387