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Gene: Pycr2 MGI:1277956

Gene Summary

Name:

pyrroline-5-carboxylate reductase family, member 2

Synonyms:

P5cr2, 1810018M05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
absent pinna reflex	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.03×10^-13
decreased bone mineral density	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.93×10^-06
trunk curl	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.26×10^-10
decreased Ly6C low monocyte number	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased fasting circulating glucose level	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.59×10^-05
decreased monocyte cell number	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
limb grasping	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.78×10^-19
increased mean corpuscular hemoglobin	Pycr2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.30×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

13 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Pycr2^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Pycr2^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 69 images

Pycr2^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Pycr2^{tm1a(EUCOMM)Wtsi}
cataract, HOM, Female, WTSI

Pycr2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Pycr2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Pycr2^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Human diseases caused by Pycr2 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 Pycr2 (3 diseases)
Human diseases predicted to be associated with Pycr2 (878 diseases)

The table below shows human diseases associated to Pycr2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Ataxia, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Leukodystrophy, Hypomyelinating, 10	Reduced cerebral white matter volume, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the...	OMIM:616420

The table below shows human diseases predicted to be associated to Pycr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Pelizaeus-Merzbacher Disease	Generalized dystonia, Reduction of oligodendroglia, Ataxia, Cerebral dysmyelination, Microcephaly...	OMIM:312080
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia...	OMIM:619565
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p...	OMIM:208920
Huntington Disease-Like 2	Caudate atrophy, Chorea, Weight loss, Abnormal cerebral morphology, Dystonia, Cerebral cortical a...	ORPHA:98934
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul...	OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ...	OMIM:614436
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Dysplastic corpus callosum, Dystonia, Global brain atro...	OMIM:618276
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Scoliosis, Distal sensory impairment	OMIM:616155
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Cerebral atr...	OMIM:604168
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona...	ORPHA:90103
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Abnormal cerebral white matter morphology, Axonal degeneration, Kyphosis	OMIM:618138
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Ataxia, Dystonia, Microcephaly, Kyphosis, Obesity, Cerebral atrophy, Scolio...	OMIM:616756
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Axonal degeneration, Scoliosis	OMIM:618811
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo...	ORPHA:88628
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Diaminopentanuria	Hyperlysinuria, Neurodegeneration, Ataxia, Cystinuria	OMIM:222350
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Juvenile Huntington Disease	Cerebellar atrophy, Neuronal loss in basal ganglia, Ataxia, Chorea, Weight loss, Gait ataxia, Abn...	ORPHA:248111
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Peripheral demyelination, Chorea, Cerebral atrophy, Axonal ...	OMIM:617672
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal cerebral white matter morphology, S...	ORPHA:363717
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Microcephaly, Kyphosis, Cortical dysplasia, Impaired proprioception...	ORPHA:319199
Huntington Disease-Like 2	Chorea, Weight loss, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ...	ORPHA:217260
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Degeneration of a...	OMIM:604320
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610951
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia	OMIM:620011
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Leukoencephalopathy, Hand tremor, Lateral ventricle dilatation, Neuro...	OMIM:615889
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Leukoencephalopathy, Gliosis,...	OMIM:236792
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the l...	OMIM:614409
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Microcephaly, K...	OMIM:611890
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Dystonia	ORPHA:599373
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Hemimegalencephaly	Pachygyria, Optic atrophy, Hemimegalencephaly, Gray matter heterotopia, Gliosis, Hyperintensity o...	ORPHA:99802
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia, Increased susceptibility to fractures	OMIM:304700
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking ...	OMIM:230650
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610743
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis, Hypoplasia of the corpus callosum	OMIM:611225
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Dysmetria, Paresthesia, Scoliosis, Abnormality of the cervical spine, Cerebral ...	ORPHA:48431
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:607136
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Neurodegenera...	OMIM:612319
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Hypoesthesia...	OMIM:619737
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Neuronal loss in central nervous system	OMIM:143100
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g...	OMIM:615095
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebel...	ORPHA:79243
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia,...	OMIM:616811
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Microcephaly, Impaired pain sensation, Kyphosis, Chorea, Cerebral atrophy, Gait ataxia, Hypoplasi...	ORPHA:500180
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Corpus callosum atrophy, Leukoencephalopathy, Abnormal cerebral whit...	OMIM:221820
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Torsion d...	OMIM:128100
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, ...	ORPHA:85278
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum	OMIM:613162
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101075
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Ataxia, Progressive microcephaly	OMIM:620007
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Pulmonary Blastoma	Weight loss	ORPHA:64741
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral white matter atrophy, Dystonia, Ataxia, Delayed peripheral myelination, Microcephaly, Ky...	ORPHA:464282
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Ataxia, Impaired pain sensation, Kyphosis, Obesity, Distal sensory ...	OMIM:618124
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Optic atrophy, Dystonia, Failure to thrive	OMIM:618237
Developmental And Epileptic Encephalopathy 14	Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Neuronal loss in central nervous system...	OMIM:614959
Spinocerebellar Ataxia, Autosomal Recessive 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Cerebellar vermis atrophy	OMIM:213200
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Ataxia, Cachexia, Microcephaly, Kyphosis, Optic atrophy, Choreoathe...	ORPHA:702
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101078
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Huntington Disease-Like 1	Cerebellar atrophy, Chorea, Abnormal basal ganglia morphology, Weight loss, Dysmetria, Gait ataxi...	ORPHA:157941
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Masa Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Distal sensory impairment	OMIM:604218
Flynn-Aird Syndrome	Cerebral calcification, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral ...	ORPHA:2047
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Neurodegeneration, Primary microcephaly, Diffuse cerebella...	ORPHA:478029
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Cachexia, Microcephaly, Head tit...	ORPHA:300605
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Cerebral atrophy, Scoliosis, Dystonia, Cer...	OMIM:617435
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Optic atrophy, Scoliosis	ORPHA:99014
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,...	OMIM:105550
Baralle-Macken Syndrome	Microcephaly, Kyphosis, Obesity, Dystonia, Global brain atrophy	OMIM:619255
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Cerebral cortical atrophy, Abnormal cr...	ORPHA:97229
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Gliosis, Cerebral cortical atrophy	OMIM:618369
Huntington Disease	Caudate atrophy, Chorea, Cerebral atrophy, Weight loss, Abnormal cerebral white matter morphology...	ORPHA:399
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Weight loss, Abnormal cerebral white matter morphology, Slender build	OMIM:613662
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Cerebral atro...	OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Kyphosis, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnormal cerebral wh...	OMIM:300354
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Failure to thrive	OMIM:612075
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Kyphosis, Atrophy/Degeneration affectin...	ORPHA:88644
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis	ORPHA:85317
Tuberculosis	Weight loss	ORPHA:3389
Lissencephaly Due To Tuba1A Mutation	Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,...	ORPHA:171680
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormality of the vertebral spinous processes, Somatic se...	ORPHA:909
Adrenomyeloneuropathy	Back pain, Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involvin...	ORPHA:139399
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha...	OMIM:614833
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
De Sanctis-Cacchione Syndrome	Ataxia, Microcephaly, Basal ganglia calcification, Axonal degeneration, Optic atrophy, Cerebral a...	OMIM:278800
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Cerebral atrophy, Astrocytosis, Cerebral cortex with spongiform changes, Gliosis, Hyperin...	ORPHA:204
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atro...	OMIM:252650
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Microcep...	OMIM:214150
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Jaberi-Elahi Syndrome	Dystonia, Microcephaly, Tremor, Kyphosis, Globus pallidus hypointensity on susceptibility-weighte...	OMIM:617988
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Patent ductus arteriosus, Cerebral atrophy, Scoliosis, Thin corpus ...	OMIM:619797
Hypomelanosis Of Ito	Microcephaly, Kyphosis, Cerebral atrophy, Gray matter heterotopia, Scoliosis	OMIM:300337
Ck Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Pachygyria, Slender build, Polymicrogyria	OMIM:300831
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Microcephaly, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Failure ...	OMIM:248800
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia	ORPHA:71272
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis	OMIM:300861
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Neuronal loss in the cerebral co...	ORPHA:168486
Pontocerebellar Hypoplasia, Type 2A	Microcephaly, Chorea, Optic atrophy, Opisthotonus, Abnormal cerebral white matter morphology, Gli...	OMIM:277470
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal...	OMIM:256600
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Head titubation, Optic...	OMIM:615491
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Rett Syndrome	Dystonia, Cachexia, Kyphosis, Gait ataxia, Secondary microcephaly, Scoliosis, Truncal ataxia, Cer...	OMIM:312750
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, White mater abnormalities in the posterior per...	OMIM:609242
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Isaacs Syndrome	Distal sensory impairment, Weight loss	ORPHA:84142
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Gliosis, Dystonia, Focal substantia nigra T2 hype...	OMIM:256000
Idiopathic Achalasia	Weight loss	ORPHA:930
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss	ORPHA:1164
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Generalized dystonia, Opisthotonus, Increased susceptibility to fractures	ORPHA:216866
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Short neck, Microcephaly, Cerebral atrophy, Scoliosis, Hy...	OMIM:616801
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal c...	OMIM:301900
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Cerebral calcification, Ataxia, Periventricular heterotopia, Kyphosis, ...	OMIM:618476
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Scoliosis	OMIM:617404
Neurodegeneration With Brain Iron Accumulation 3	Cavitation of the basal ganglia, Ataxia, Writer's cramp, Tremor, Chorea, Choreoathetosis, Blephar...	OMIM:606159
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Abnorm...	OMIM:606612
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia, Punctate per...	ORPHA:309246
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis, Microcephaly	OMIM:300434
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Scoliosis, Brain...	OMIM:616900
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Gerstmann-Straussler Disease	Cerebellar atrophy, Neurofibrillary tangles, Tremor, Limb ataxia, Gait ataxia, Weight loss, Trunc...	OMIM:137440
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis	ORPHA:276630
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Tremor,...	OMIM:614298
Fatal Familial Insomnia	Cerebral cortex with spongiform changes, Ataxia, Neuronal loss in central nervous system, Weight ...	OMIM:600072
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Hyperlordosis, Tremor, Kyphosis, Patent ductus arteriosus, Optic at...	ORPHA:354
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Optic atrophy, Scoliosis, Sensory axon...	OMIM:609541
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib...	ORPHA:298
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Dystonia	OMIM:614898
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis, Impaired pain sensation	ORPHA:505652
O'Donnell-Luria-Rodan Syndrome	Abnormal cerebral white matter morphology, Kyphosis, Abnormal corpus callosum morphology	OMIM:618512
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Ataxia, Microcephaly, Gliosis, Hypoplasia of the corpus ca...	OMIM:612936
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Microcephaly, Tremor, Abnormality of neuron...	OMIM:300957
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Short neck, Microcephaly, Dysplastic corpus callosum, Colpocephaly,...	OMIM:619955
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Hall-Riggs Syndrome	Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Microcephaly, Optic atrophy, Neurodegeneration, Gliosis, Hypoplasia of the co...	OMIM:616239
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Abnormal cortical gyration, Dysplastic corpus callosum, Choreoathetosis, Hyp...	ORPHA:2524
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Microcephaly, Hyperlordosis, Kyphosis, Peris...	OMIM:618443
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria	OMIM:618857
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of ...	OMIM:618291
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Microcephaly, Kyphosis, Failure to thrive, Global brain atrophy	OMIM:608776
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Scoliosis	ORPHA:2429
Atypical Rett Syndrome	Impaired pain sensation, Tremor, Kyphosis, Gait ataxia, Pill-rolling tremor, Secondary microcepha...	ORPHA:3095
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis	ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Neuronal loss in basal ganglia, Cerebral atrophy, Gliosis, Neuronal loss in c...	OMIM:604377
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Cachexia, Hyperlordosis	ORPHA:157973
Winchester Syndrome	Kyphosis	OMIM:277950
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Progressive microcephaly	ORPHA:79327
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Microcephaly, ...	OMIM:615084
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Ataxia, Cachexia, Microcephaly, Aminoaciduria	ORPHA:1933
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus	OMIM:618658
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Abnormal cerebral white matt...	OMIM:618321
Chronic Hiccup	Weight loss	ORPHA:396
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Corpus callosum atrophy, Kyphosis, Atrophy/Degeneration...	ORPHA:171629
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Primary Non-Essential Cutis Verticis Gyrata	Periventricular leukomalacia, Gliosis, Scoliosis, Microcephaly	ORPHA:357225
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired dist...	OMIM:607459
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Dystonia, Titubation	ORPHA:225147
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern, Cerebral atrophy, Leuk...	OMIM:619244
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:156530
Mcdonough Syndrome	Kyphosis, Cachexia, Scoliosis	ORPHA:2471
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Small for gestational age, Scoliosis, Microcephaly	OMIM:615834
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Diffuse leukoencephalopathy,...	OMIM:169500
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Dystonia, Hyperi...	OMIM:619708
Acute Myelomonocytic Leukemia	Eosinophilia, Weight loss	ORPHA:517
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Scoliosis	OMIM:618234
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Microcephaly, Facial diplegia, Hypoplasia of the corpus callosum, D...	OMIM:618186
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Optic atrophy, Cerebral atrophy, Dysmetria, ...	OMIM:610217
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Titubation, Gliosis...	ORPHA:280210
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Small for gestational age, Scoliosis, Microcephaly	ORPHA:352490
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Emanuel Syndrome	Sacral dimple, Torticollis, Microcephaly, Kyphosis, Patent ductus arteriosus, Hydrocephalus, Cere...	OMIM:609029
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Weight loss, Paraganglioma	ORPHA:94080
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Wieacker-Wolff Syndrome	Facial palsy, Hyperlordosis, Short neck, Microcephaly, Kyphosis, Cerebral atrophy, Scoliosis, Dys...	OMIM:314580
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Limb ataxia, Progressive cere...	OMIM:109150
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Aminoaciduria, Glio...	OMIM:614946
Moynahan Syndrome	Cachexia, Microcephaly	ORPHA:2574
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Microcephaly, Optic atrophy, Gliosis, Neuronal loss in central nervous system, Thin corpus callos...	OMIM:614498
Sialidosis Type 2	Tremor, Kyphosis, Ataxia	ORPHA:87876
Even-Plus Syndrome	Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft vertebrae, Agenesis of ...	OMIM:616854
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss	ORPHA:3165
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis, Microcephaly	ORPHA:2598
Erythrokeratodermia Variabilis	Weight loss, Microcephaly	ORPHA:317
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Optic atrophy, Diffuse leukoen...	OMIM:619487
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Microcephaly, Atrophy/Degeneration affectin...	OMIM:617193
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Small for gestational age, Microcephaly, Cerebral atrophy, Opisthotonus, Lateral v...	OMIM:619847
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Scoliosis, Agenesis of corpus callosum	ORPHA:238750
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Weight loss, Abnormal glossopharyngeal nerve ...	ORPHA:221098
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Patent ductus arteriosus, Failure to thrive, Short neck	ORPHA:1842
Kapur-Toriello Syndrome	Failure to thrive, Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, ...	ORPHA:2328
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Microcephaly	OMIM:620001
Alexander Disease	Cerebral calcification, Ataxia, Facial palsy, Hyperlordosis, Short neck, Megalencephaly, Kyphosis...	ORPHA:58
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus callosum, Hypoplasia of...	OMIM:603387
Plaa-Associated Neurodevelopmental Disorder	Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep...	ORPHA:521426
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Hereditary Late-Onset Parkinson Disease	Resting tremor, Weight loss, Gliosis, Dystonia, Lewy bodies, Cerebral cortical atrophy	ORPHA:411602
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dystonia, Ataxia, Dysplastic corpus callosum, Athetosis, Secondary microce...	ORPHA:357058
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis	OMIM:618484
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ...	ORPHA:2635
Diamond-Blackfan Anemia 6	Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume	OMIM:612561
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis	ORPHA:75840
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Short neck, Microcephaly, Scoliosis, Hypoplasia of the corpus callosum, Severe failure ...	ORPHA:371364
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Sialidosis Type 1	Ataxia, Tremor, Kyphosis, Abnormal form of the vertebral bodies, Aminoaciduria, Scoliosis	ORPHA:812
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L...	ORPHA:93958
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Microcephaly, Kyphosis	ORPHA:352447
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Kleefstra Syndrome 2	Kyphosis, Scoliosis, Microcephaly	OMIM:617768
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Mulibrey Nanism	Cachexia	ORPHA:2576
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Microcephaly, Chorea, Athetosis, Dystonia	ORPHA:52503
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Aminoaciduria, Failure to thrive, Microcephaly	OMIM:604273
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:181405
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Abnormal cortical gyration, Kyphosis, Cessation of head growth, Opt...	OMIM:617527
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migrati...	ORPHA:93274
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Progressive Supranuclear Palsy	Tremor, Blepharospasm, Gliosis, Dystonia, Neuronal loss in central nervous system, Cerebral corti...	ORPHA:683
Harrod Syndrome	Microcephaly, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:2115
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ...	ORPHA:506
Infantile Krabbe Disease	Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Optic atrophy,...	ORPHA:206436
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build	OMIM:254090
Perry Syndrome	Tremor, Weight loss	ORPHA:178509
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hydrocephalus, Gray mat...	ORPHA:2655
Oculoskeletodental Syndrome	Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal white matter lesions	ORPHA:557003
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Gliosis, Dystonia, Subcortical w...	ORPHA:3240
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Hyperlordosis, Megalencephaly, Kyphosis, Large f...	OMIM:617011
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Limb ataxia, Gait ataxia...	OMIM:248500
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Weight loss	ORPHA:3208
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Short neck, Microcephaly, Kyphosis, Scoliosis, Brain atrophy	OMIM:301041
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Microcephaly	ORPHA:816
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive	ORPHA:536516
Myopathy, Centronuclear, 2	Kyphosis, Facial palsy, Scoliosis, Hyperlordosis	OMIM:255200
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Opisthotonus, Increased urinary taurine...	OMIM:252160
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Microcephaly	ORPHA:2617
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Simplified gyral pattern, Athetosis, Scoliosis, Hypoplasia of the cor...	OMIM:613454
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Neuronal loss in basal ganglia, Neurofibrillary tangles, Tremor, C...	OMIM:601104
Micro Syndrome	Microcephaly, Kyphosis, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, ...	ORPHA:2510
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Abnormal substantia nigra morphology, Oculogyric crisis, Kyphosis, ...	ORPHA:97349
15Q24 Microdeletion Syndrome	Small for gestational age, Microcephaly, Kyphosis, Myelomeningocele, Obesity, Scoliosis, Failure ...	ORPHA:94065
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Ganglioneuroma, Weight loss	OMIM:256700
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red...	OMIM:617052
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os...	OMIM:260400
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Tremor, Weight loss, Abnormal cerebral white matter morphology, Brain atrophy	OMIM:164310
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Ataxia, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperin...	ORPHA:481152
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lewy bodies, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal loss in cen...	OMIM:607485
Pleural Mesothelioma	Weight loss	ORPHA:50251
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Microcephaly, Neuronal loss in the cerebral cortex, ...	OMIM:301072
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Small for gestational age, Chorea, Optic atrophy, Generali...	ORPHA:404454
Follicular Lymphoma	Weight loss	ORPHA:545
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Microcephaly, Tremor, Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:617061
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Insulin-resistant diabetes mellitus...	ORPHA:2298
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Dystonia, Ataxia, Short neck, Microcephaly, Kyphosis, Tremor, ...	OMIM:300966
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Kyphosis, Scoliosis, Hypoplasia of the corpus callosum, Slender build	ORPHA:364028
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Scoliosis, Cavum sep...	OMIM:616449
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Hypointensity of cerebral white matter on MRI, Cachexia, Hypoesthesia, Leukoencephalopathy, Weigh...	OMIM:603041
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Elevated urinary S-sulfocysteine level, Cerebral atrophy, Opisthotonus, Increased u...	OMIM:252150
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Microcephaly, Basal ganglia calcification, ...	OMIM:617281
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Clark-Baraitser syndrome	Kyphosis, Obesity, Scoliosis	OMIM:300602
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Hypointensity of cerebral white matter on MRI, ...	ORPHA:845
Schaaf-Yang Syndrome	Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis	OMIM:615547
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Holocarboxylase Synthetase Deficiency	Ataxia, Weight loss	ORPHA:79242
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, Scoliosis	ORPHA:2181
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Somatic sensory dysfunction, Torticollis, Weight loss	ORPHA:370348
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Gliosis, Dystonia, Lewy bodies, Global brain atrophy	OMIM:168601
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Microcephaly	ORPHA:77300
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Megalencephaly, Large for gest...	ORPHA:457359
Diastrophic Dysplasia	Cerebral calcification, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic c...	ORPHA:628
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cerebral degeneration, Beaking of ...	OMIM:230500
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Kyphosis, Scoliosis, Truncal ataxia, Cranial nerve motor loss	OMIM:211530
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Fai...	OMIM:614924
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Short neck, Microcephaly, Kyphosis, Tremor, Obesity, Scoliosis	ORPHA:85293
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Vici Syndrome	Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:242840
Pfapa Syndrome	Weight loss	ORPHA:42642
Renpenning Syndrome	Cachexia, Microcephaly	ORPHA:3242
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Kyphosis, Dysmetria, Failure to thrive, Intenti...	OMIM:212065
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Cerebrofacioarticular Syndrome	Ataxia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the corp...	ORPHA:314679
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Partial agenesis of the corpus callosum, Scoliosis, Failure to thrive	ORPHA:420794
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Microcephaly, Fused cervical vertebrae	ORPHA:2522
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Obesity, Thoracolumbar kyph...	ORPHA:15
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Failure to thrive, Microcephaly, Overweight, Kyphosis, Hydrocephal...	ORPHA:500055
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Kyphosis, Cerebral atrophy, Dystonia, Failure to thrive	OMIM:615512
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss	ORPHA:324964
Rhizomelic Syndrome, Urbach Type	Kyphosis, Short neck, Abnormal form of the vertebral bodies, Microcephaly	ORPHA:3098
Perry Syndrome	Tremor, Dystonia, Weight loss	OMIM:168605
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Marshall-Smith Syndrome	Thoracic scoliosis, Decreased body weight, Failure to thrive, Absent septum pellucidum, Kyphoscol...	OMIM:602535
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Microcephaly, Kyphosis, Meningocele, Abnorma...	ORPHA:2311
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Caudate atr...	ORPHA:2388
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegia, Scoliosis	ORPHA:171436
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss	OMIM:613239
Coffin-Lowry Syndrome	Microcephaly, Kyphosis, Optic atrophy, Abnormality of neuronal migration, Abnormal form of the ve...	ORPHA:192
Rhabdoid Tumor	Weight loss	ORPHA:69077
Wilson Disease	Back pain, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Gait ataxia, Secondary microcephaly, Scoliosis, Primary microcephaly, Failure t...	ORPHA:476126
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Microcephaly	OMIM:180870
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Focal Myositis	Weight loss	ORPHA:48918
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Agenesis of corpus callosum, Scoliosis, Microcephaly	ORPHA:261144
3C Syndrome	Short neck, Kyphosis, Hydrocephalus, Optic atrophy, Hemivertebrae, Abnormality of neuronal migrat...	ORPHA:7
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis	ORPHA:98863
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Small for gestational age, Microcephaly, Kyphosis, Patent ductus arteriosus, A...	ORPHA:464311
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Cerebral cortical neurodegeneration, Cerebral atro...	OMIM:203700
8P23.1 Microdeletion Syndrome	Short neck, Microcephaly, Patent ductus arteriosus, Obesity, Weight loss	ORPHA:251071
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Weight loss	ORPHA:449400
Trisomy 13	Kyphosis, Patent ductus arteriosus, Optic atrophy, Scoliosis	ORPHA:3378
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Takayasu Arteritis	Weight loss	ORPHA:3287
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis	ORPHA:98855
Supranuclear Palsy, Progressive, 2	Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Neurofibrillary tangles, Granulo...	OMIM:609454
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Microcephaly, Kyphosis, Patent ductus...	OMIM:610443
Cockayne Syndrome	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Cerebral calcification, Atax...	ORPHA:191
Ring Chromosome 10 Syndrome	Cachexia, Short neck	ORPHA:1438
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le...	ORPHA:99867
Poems Syndrome	Papilledema, Weight loss, Paresthesia, Hyperesthesia, Sclerotic vertebral endplates	ORPHA:2905
Mgat2-Cdg	Kyphosis, Patent ductus arteriosus, Scoliosis, Brain atrophy, Failure to thrive, Progressive micr...	ORPHA:79329
Immunodeficiency 27A	Weight loss	OMIM:209950
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Hydrocephalus, Neurodegeneration	OMIM:309900
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hydrocephalus, Gray mat...	ORPHA:1860
19P13.12 Microdeletion Syndrome	Short neck, Microcephaly, Kyphosis, Obesity, Scoliosis, Hypoplasia of the corpus callosum	ORPHA:254346
Urban-Rogers-Meyer Syndrome	Kyphosis, Obesity, Short neck	ORPHA:3409
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Kyphosis, Colpocephaly, Scoliosis, Hypoplasi...	ORPHA:261250
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Tetrasomy 12P	Cachexia, Short neck	ORPHA:884
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:300280
Shashi-Pena Syndrome	Reduced cerebral white matter volume, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/...	OMIM:617190
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Peripheral axonal neuropathy	OMIM:618810
Cockayne Syndrome B	Small for gestational age, Abnormal peripheral myelination, Ataxia, Microcephaly, Tremor, Basal g...	OMIM:133540
Thymic Neuroendocrine Tumor	Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm	ORPHA:97289
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Eosinophilia, Weight loss	ORPHA:183
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis	OMIM:251450
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly	OMIM:619423
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Kyphosis, Patent ductus arteriosus, T...	OMIM:300967
Cockayne Syndrome Type 2	Kyphosis, Ataxia, Subcortical white matter calcifications, Scoliosis	ORPHA:90322
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Neurodegeneration, Bicon...	OMIM:607014
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis	ORPHA:98853
Smith-Mccort Dysplasia 1	Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability,...	OMIM:607326
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Kyphosis, Patent ductus arteriosus	OMIM:619909
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thic...	ORPHA:544488
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Microcephaly, Hydrocephalus, Optic atrophy	ORPHA:220295
Lead Poisoning	Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Giant Cell Arteritis	Optic atrophy, Paresthesia, Ataxia, Weight loss	ORPHA:397
Marden-Walker Syndrome	Short neck, Microcephaly, Kyphosis, Scoliosis, Agenesis of corpus callosum	OMIM:248700
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Celiac Disease, Susceptibility To, 1	Failure to thrive, Cerebral calcification, Ataxia, Weight loss	OMIM:212750
Aredyld Syndrome	Cachexia, Scoliosis	ORPHA:1133
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Thymic Carcinoma	Weight loss	ORPHA:99868
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Small for gestational age, Microcephaly, Kyphosis, Patent ductus arteriosus, H...	ORPHA:464306
Kaposi Sarcoma	Weight loss	ORPHA:33276
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus ...	ORPHA:464738
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Leishmaniasis	Weight loss	ORPHA:507
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Osteosarcoma	Weight loss	ORPHA:668
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Microcephaly, Kyphosis, Optic atrophy, Obesity, Scoliosis	OMIM:618493
Trisomy 9P	Sacral dimple, Short neck, Microcephaly, Kyphosis, Scoliosis	ORPHA:236
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Pelger-Huet Anomaly	Kyphosis, Failure to thrive	OMIM:169400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Microcephaly, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Chronic Beryllium Disease	Weight loss	ORPHA:133
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Weight loss	ORPHA:2902
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Microcephaly, Tremor, Basal ganglia ...	OMIM:216400
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Fryns-Smeets-Thiry Syndrome	Cachexia, Scoliosis, Microcephaly	ORPHA:2058
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Parkinson Disease 4, Autosomal Dominant	Lewy bodies, Weight loss	OMIM:605543
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Xfe Progeroid Syndrome	Cachexia, Microcephaly, Optic atrophy, Scoliosis, Failure to thrive	OMIM:610965
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity, Secondary microcephaly, Scoliosis	ORPHA:813
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Microcephaly	ORPHA:3121
Distal Triplication 15Q	Large for gestational age, Kyphosis, Patent ductus arteriosus, Hydrocephalus, Scoliosis	ORPHA:314588
Eosinophilic Gastroenteritis	Eosinophilia, Weight loss	ORPHA:2070
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Obesity	ORPHA:261222
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Patent ductus arteriosus, Hydrocephalus, Meningocele, Sco...	OMIM:130720
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis	OMIM:620351
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Facial palsy, Microcephaly, Kyphosis, Optic atrophy, Scoliosis, Failure t...	ORPHA:261349
Bullous Pemphigoid	Weight loss	ORPHA:703
Cap Polyposis	Weight loss	ORPHA:160148
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness	ORPHA:847
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Cockayne Syndrome Type 3	Optic disc pallor, Cerebral white matter atrophy, Peripheral axonal neuropathy, Basal ganglia cal...	ORPHA:90324
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Kyphosis, Chorea, Platyspondyly, A...	ORPHA:1855
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis, Microcephaly	ORPHA:2479
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Alveolar Echinococcosis	Low back pain, Ataxia, Eosinophilia, Weight loss, Abnormal vertebral morphology	ORPHA:284
Microphthalmia, Lenz Type	Hyperlordosis, Microcephaly, Kyphosis, Optic disc coloboma, Aplasia/Hypoplasia of the corpus call...	ORPHA:568
Camurati-Engelmann Disease	Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the verteb...	ORPHA:1328
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Pycnodysostosis	Cerebral dysmyelination, Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Spondylol...	ORPHA:763
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Megalencephaly, Kyphosis, Hydrocephalus, Platyspondyly, Hypoplasia of the c...	OMIM:616482
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Facial palsy, Scoliosis	OMIM:617143
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Multiple Myeloma	Vertebral compression fracture, Elevated circulating creatinine concentration, Paresthesia, Weigh...	ORPHA:29073
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Intracerebral periventricular calcifications, Dystonia, Microcephaly, Basal g...	OMIM:615846
Lynch Syndrome	Glioblastoma multiforme, Paresthesia, Weight loss	ORPHA:144
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Failure to thrive, Ataxia, Weight loss	ORPHA:99885
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Hemivertebrae, Spina bifida occulta,...	OMIM:151050
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Zttk Syndrome	Failure to thrive, Dysplastic corpus callosum, Kyphosis, Patent ductus arteriosus, Hemivertebrae,...	OMIM:617140
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
3-Hydroxy-3-Methylglutaric Aciduria	Weight loss, Ataxia, Leukoencephalopathy, Microcephaly	ORPHA:20
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Mucopolysaccharidosis Type 6	Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck	ORPHA:583
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Microcephaly, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis	OMIM:301040
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Microcephaly, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodi...	ORPHA:280
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Paresthesia, Weight loss	ORPHA:440437
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Dysostosis, Stanescu Type	Cerebral calcification, Hyperlordosis, Short neck, Microcephaly, Kyphosis, Scoliosis	ORPHA:1798
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Beta-Ketothiolase Deficiency	Ataxia, Weight loss	ORPHA:134
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Torticollis, Isometric tremor, Ataxia, Dystonia, Microcephaly, Overweight, Kyphosis, H...	OMIM:619475
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Cystic Echinococcosis	Abnormality of the vertebral column, Eosinophilia, Weight loss	ORPHA:400
Koolen-De Vries Syndrome	Vertebral fusion, Microcephaly, Kyphosis, Aplasia/Hypoplasia of the corpus callosum, Vertebral se...	ORPHA:96169
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Cohen Syndrome	Failure to thrive in infancy, Microcephaly, Kyphosis, Optic atrophy, Obesity, Scoliosis	ORPHA:193
Whipple Disease	Hydrocephalus, Ataxia, Cachexia	ORPHA:3452
Yao Syndrome	Weight loss	OMIM:617321
Malignant Atrophic Papulosis	Pain insensitivity, Ischemic stroke, Weight loss	ORPHA:679
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia, Microcephaly	ORPHA:217346
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis, Microcephaly	ORPHA:261190
2Q31.1 Microdeletion Syndrome	Short neck, Microcephaly, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis...	ORPHA:251014
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Ganglioneuroma	OMIM:162300
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100085
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Elevated circulating creatinine concentration, Renal tubular epithelial necrosis, ...	ORPHA:49041
Bronchial Neuroendocrine Tumor	Weight loss, Pulmonary carcinoid tumor	ORPHA:97287
Trisomy 20P	Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation...	ORPHA:261318
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Microcephaly, Kyphosis, Short neck, Spina...	ORPHA:800
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Pla...	OMIM:223800
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Gray matter heterotopia, Co...	OMIM:618820
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Small for gestational age, Failure to thrive in infancy, Ataxia, Microcephaly, Kyp...	ORPHA:268261
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscoliosis, Dyspl...	ORPHA:500150
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Nephroblastoma	Weight loss	ORPHA:654
Genitopalatocardiac Syndrome	Kyphosis, Hydrocephalus, Scoliosis, Microcephaly	ORPHA:2075
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Patent ductus arteriosus	ORPHA:363444
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Hypertyrosinemia, Ataxia, Cerebral atrophy, Aminoaciduria, Gliosis, Failure t...	OMIM:124000
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Felty Syndrome	Weight loss	ORPHA:47612
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Fa...	ORPHA:398069
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Microcephaly	ORPHA:1005
Riddle Syndrome	Abnormal cerebral white matter morphology, Weight loss, Ataxia, Microcephaly	ORPHA:420741
Fucosidosis	Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae	ORPHA:349
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Kyphoscoliosis, Dysplastic corpus callosum, Patent ductus arteriosus, Hypoplasia of the c...	ORPHA:466791
Atelis Syndrome 2	Sacral dimple, Microcephaly, Kyphosis, Patent ductus arteriosus, Dysmetria	OMIM:620185
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly, Hydrocephalus	OMIM:616294
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Small for gestational age, Ataxia, Microcephaly, Tremor, Partial agenesis of the corpus...	OMIM:220111
Polymyositis	Weight loss	ORPHA:732
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Weight loss	ORPHA:85450
Short Syndrome	Weight loss	ORPHA:3163
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Pemphigus Vulgaris	Weight loss	ORPHA:704
Ménétrier Disease	Weight loss	ORPHA:2494
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Rheumatoid Arthritis	Weight loss	OMIM:180300
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Kyphosis, Hydrocephalus, Abnormal form of the vertebral b...	ORPHA:2461
Cole-Carpenter Syndrome	Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Weaver Syndrome	Absent septum pellucidum, Kyphosis, Patent ductus arteriosus, Lateral ventricle dilatation, Scoli...	OMIM:277590
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Slender build, Small for gestational age, Spina bifida, Hyperlordosis, Microcephal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Slender build, Small for gestational age, Spina bifida, Hyperlordosis, Microcephal...	ORPHA:363958
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Kyphosis, Failure to thrive	OMIM:239000
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Wolman Disease	Cachexia	ORPHA:75233
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss	ORPHA:139402
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Hydrocephalus, Scoliosis	OMIM:619951
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Refractory Celiac Disease	Weight loss	ORPHA:398063
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Prader-Willi Syndrome	Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Obesity, Abdominal obesity, Scol...	OMIM:176270
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Noonan Syndrome 14	Kyphosis, Lateral ventricle dilatation, Short neck	OMIM:619745
Cowden Syndrome 1	Kyphosis, Scoliosis, Hemimegalencephaly, Intention tremor	OMIM:158350
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Failure to thrive, Scoliosis	OMIM:617602
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Pneumocystosis	Weight loss	ORPHA:723
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Weight loss	ORPHA:199299
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Hydrocephalus, Limb ataxia, Scoliosis, Hypoplasia of the corpus callosum, ...	ORPHA:2072
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity	OMIM:219080
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Impaired pain sensation, Scoliosis, Decreased body weight	OMIM:619005
Alstrom Syndrome	Kyphosis, Truncal obesity, Scoliosis	OMIM:203800
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Cystinosis, Nephropathic	Cerebral calcification, Failure to thrive in infancy, Generalized aminoaciduria, Cerebral atrophy...	OMIM:219800
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Monosomy 9Q22.3	Large for gestational age, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral colu...	ORPHA:77301
Primary Myelofibrosis	Cachexia	ORPHA:824
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Familial Glucocorticoid Deficiency	Failure to thrive, Weight loss	ORPHA:361
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Weight loss, Scoliosis, Failure to thrive	ORPHA:2020
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Papilledema, Somatic sensory dysfunction, Tremor, My...	ORPHA:3385
Seckel Syndrome	Cachexia, Scoliosis, Microcephaly	ORPHA:808
Trisomy 18	Cachexia, Microcephaly, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Hol...	ORPHA:3380
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis	ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Failure to thrive, Scoliosis, Microcephaly	OMIM:618050
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Aspartylglucosaminuria	Aspartylglucosaminuria, Microcephaly, Kyphosis, Cerebral atrophy, Platyspondyly, Spondylolysis, S...	OMIM:208400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis, Calcification of falx cerebri	OMIM:177850
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Weight loss	ORPHA:98849
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis	ORPHA:2215
Nijmegen Breakage Syndrome	Glioma, Cachexia, Short neck, Microcephaly, Abnormality of neuronal migration	ORPHA:647
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus arteriosus, Hydrocephalus, ...	ORPHA:955
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
1P36 Deletion Syndrome	Microcephaly, Kyphosis, Patent ductus arteriosus, Optic atrophy, Spinal canal stenosis, Obesity, ...	ORPHA:1606
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Cerebrocostomandibular Syndrome	Cerebral calcification, Spina bifida, Microcephaly, Kyphosis, Myelomeningocele, Porencephalic cys...	ORPHA:1393
Fanconi Anemia	Spina bifida, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Weight loss, Scoliosis	ORPHA:84
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis	ORPHA:536532
Erdheim-Chester Disease	Ataxia, Weight loss	ORPHA:35687
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Absent septum pellucidum, Microcephaly, Kyphosis, Subcortical cere...	ORPHA:2273
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Absent septum pellucidum, Kyphosis, Hydrocephalus, Scoliosis, Agenesis of corpus ca...	ORPHA:2658
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Kyphosis, Hydrocephalus, Pheochromocytoma, Paresthesia, Plexiform neurofibro...	ORPHA:636
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Absent septum pellucidum, Microcephal...	OMIM:194190
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Scoliosis	OMIM:618223
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
Al Amyloidosis	Weight loss	ORPHA:85443
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Ependymoma, Pulmonary carcinoi...	ORPHA:652
Mend Syndrome	Sacral dimple, Kyphosis, Hydrocephalus, Hypoplasia of the corpus callosum, Failure to thrive	ORPHA:401973
Smith-Lemli-Opitz Syndrome	Microcephaly, Short neck, Kyphosis, Patent ductus arteriosus, Optic atrophy, Abnormal form of the...	ORPHA:818
Osteogenesis Imperfecta	Somatic sensory dysfunction, Small for gestational age, Cervical kyphosis, Ataxia, Kyphosis, Hydr...	ORPHA:666
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:616894
Mucolipidosis Type Ii	Kyphosis, Weight loss	ORPHA:576
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Kyphosis, Scoliosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum	OMIM:619194
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Scoliosis	ORPHA:109
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Thyrotoxic Periodic Paralysis	Tremor, Obesity, Weight loss	ORPHA:79102
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hydrocephalus	OMIM:616914
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Familial Pancreatic Carcinoma	Back pain, Weight loss	ORPHA:1333
Ramon Syndrome	Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight	OMIM:266270
Polycythemia Vera	Weight loss	ORPHA:729
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Glioma, Cerebellar glioma, Kyphosis, Schwannoma, Brainstem glioma, Glo...	ORPHA:97685
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef...	OMIM:265000
Brucellosis	Small for gestational age, Chorea, Weight loss, Sacroiliac arthritis, Failure to thrive	ORPHA:1304
Klatskin Tumor	Weight loss	ORPHA:99978
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ver...	OMIM:259770
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Hypoplasia ...	OMIM:249420
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Marfan Syndrome	Cachexia, Kyphosis, Meningocele, Scoliosis, Slender build, Spondylolisthesis	ORPHA:558
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Williams Syndrome	Sacral dimple, Failure to thrive in infancy, Ataxia, Microcephaly, Atrophy/Degeneration involving...	ORPHA:904
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Q Fever	Weight loss	ORPHA:781
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Weight loss	ORPHA:85408
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Increased body weight, Pulmonary carcinoid tumor, Weight loss, Trunca...	ORPHA:99889
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Rat-Bite Fever	Back pain, Weight loss	ORPHA:31205
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Caroli Disease	Weight loss	ORPHA:53035
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Behçet Disease	Ataxia, Paresthesia, Weight loss	ORPHA:117
Mend Syndrome	Kyphosis, Sacral dimple, Failure to thrive, Hydrocephalus	OMIM:300960
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Coffin-Siris Syndrome 1	Sacral dimple, Microcephaly, Kyphosis, Partial agenesis of the corpus callosum, Patent ductus art...	OMIM:135900
Cowden Syndrome	Kyphosis, Failure to thrive, Ataxia, Scoliosis	ORPHA:201
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Elevated circulating creatinine concentration, Renal tubular epithelial necrosis, We...	ORPHA:91500
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity	OMIM:619426
Primrose Syndrome	Cerebral calcification, Ataxia, Kyphosis, Irregular vertebral endplates, Truncal obesity, Posteri...	OMIM:259050
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Stickler Syndrome	Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, ...	ORPHA:828
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Microcephaly	OMIM:619123
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Kyphoscoliosis, Cerebral edema, Megalencephaly	ORPHA:3063
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona...	OMIM:143095
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss	ORPHA:91347
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Castleman Disease	Weight loss	ORPHA:160
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Weight loss	ORPHA:171
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Lowe Oculocerebrorenal Syndrome	Kyphosis, Periventricular cysts, Platyspondyly, Aminoaciduria, Scoliosis, Failure to thrive	OMIM:309000
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Poland Syndrome	Encephalocele, Short neck, Microcephaly, Kyphosis, Hemivertebrae, Vertebral segmentation defect, ...	ORPHA:2911
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Platyspondyly, Aminoaciduria, Scoliosis, Failure to thrive	ORPHA:534
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Cachexia	ORPHA:79076
Immunodeficiency 31C	Weight loss	OMIM:614162
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Norrie Disease	Cachexia, Microcephaly, Optic atrophy, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:649
Addison Disease	Failure to thrive, Weight loss	ORPHA:85138
Witteveen-Kolk Syndrome	Small for gestational age, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Obesity,...	OMIM:613406
Cdags Syndrome	Kyphosis	OMIM:603116
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Postinfectious Vasculitis	Ischemic stroke, Weight loss	ORPHA:48435
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Tremor, Kyphosis, Patent ductus arteriosus, Cerebral atroph...	ORPHA:821
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Eosinophilia, Weight loss	ORPHA:449395
Pyomyositis	Weight loss	ORPHA:764
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po...	ORPHA:3042
Pancreatoblastoma	Weight loss	ORPHA:677
Granulomatosis With Polyangiitis	Weight loss	ORPHA:900
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Weight loss	ORPHA:3337
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Tropical Pancreatitis	Weight loss	ORPHA:103918
Reactive Arthritis	Weight loss	ORPHA:29207
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis, Microcephaly	ORPHA:2232
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss	ORPHA:79078
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Weight loss	OMIM:181000
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Somatostatinoma	Weight loss	ORPHA:97283
Malt Lymphoma	Weight loss	ORPHA:52417
Coffin-Lowry Syndrome	Microcephaly, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight	OMIM:303600
Parathyroid Carcinoma	Weight loss	ORPHA:143
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Cerebral calcification, Scoliosis	ORPHA:198
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Leukodystrophy, Hypomyelinating, 10	Reduced cerebral white matter volume, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the...	OMIM:616420
Proteus Syndrome	Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Gray matter heterotopia, Scoliosis	ORPHA:744
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Sarcoidosis	Eosinophilia, Facial palsy, Weight loss	ORPHA:797
Nocardiosis	Weight loss	ORPHA:31204
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Wrinkly Skin Syndrome	Microcephaly, Kyphosis, Scoliosis, Failure to thrive, Progressive microcephaly	OMIM:278250
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:881
Acromegaly	Kyphosis, Paresthesia, Spinal canal stenosis	ORPHA:963
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Somatomammotropinoma	Kyphosis, Paresthesia, Spinal canal stenosis	ORPHA:314769
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Yunis-Varon Syndrome	Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy...	OMIM:216340
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Viss Syndrome	Microcephaly, Kyphosis, Patent ductus arteriosus, Hypereosinophilia, Scoliosis, Failure to thrive...	OMIM:619472
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Microcephaly	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia	ORPHA:75565
Goodpasture Syndrome	Weight loss	OMIM:233450
Alström Syndrome	Optic disc pallor, Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Kyphosis, Obesity, Tr...	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 Pycr2

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 Pycr2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genetic analysis of Pycr1 and Pycr2 in mice.	Genetics (May 2021)	Pycr2^{tm1a(EUCOMM)Wtsi}	33734376
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pycr2^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pycr2^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pycr2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pycr2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pycr2^{tm1a(EUCOMM)Wtsi}	PMC5827107

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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
Pycr2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pycr2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pycr2 MGI:1277956

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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X-ray

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X-ray

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X-ray

Eye Morphology

Eye Morphology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pycr2 mutations

Histopathology

IMPC related publications

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