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Gene: Fgf14 MGI:109189

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Gene Summary

Name:
fibroblast growth factor 14
Synonyms:
Fhf4

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating alkaline phosphatase level Fgf14em1(IMPC)Ccpcz HOM Early adult 7.38×10-05
abnormal spleen morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thyroid gland Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Fgf14em1(IMPC)Ccpcz HOM Early adult 3.75×10-05
decreased grip strength Fgf14em1(IMPC)Ccpcz HOM   Early adult 7.43×10-10
decreased body weight Fgf14em1(IMPC)Ccpcz HOM Early adult 5.54×10-08
kyphosis Fgf14em1(IMPC)Ccpcz HOM   Early adult 2.27×10-07
abnormal thyroid gland morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

36 Images

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X-ray

XRay Images Forepaw

18 Images

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XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Skull Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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Human diseases caused by Fgf14 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.

The table below shows human diseases associated to Fgf14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... ORPHA:98764
Spinocerebellar Ataxia 27
Abnormal vestibulo-ocular reflex OMIM:193003

The table below shows human diseases predicted to be associated to Fgf14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Motor deterioration, Impaired propriocept... ORPHA:98765
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circula... OMIM:188570
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Mental deterioration, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:614561
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased circulating thyroglobulin level OMIM:274600
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cognitive impairment, Slurred ... ORPHA:157941
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... ORPHA:85292
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:97290
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... ORPHA:79262
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Cognitive impairment, Opisthotonus, Gait disturbance, Frequent f... ORPHA:216866
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... ORPHA:98764
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Bangstad Syndrome
Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Pa... OMIM:210740
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Alternating Hemiplegia Of Childhood 2
Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Mental deterioration, Choreoatheto... OMIM:614820
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Weight loss, Goiter OMIM:613239
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hyperthyroidism, Glutaric aciduria OMIM:231690
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure, Dementia OMIM:208700
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkin... OMIM:619911
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia ORPHA:308
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Epilepsy, Progressive Myoclonic 7
Ataxia, Mental deterioration, Myoclonus, Tremor, Seizure OMIM:616187
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... OMIM:275000
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia, Dementia OMIM:125370
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter, Hypokalemia, Hyperthyroidism OMIM:188580
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Spastic dys... ORPHA:240094
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Scolios... ORPHA:163634
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Ataxia, Akinesia, Parkinsonism with favorable response to dopaminergic ... OMIM:606693
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... ORPHA:225147
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis, Euthyroid goiter ORPHA:3327
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... ORPHA:98773
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Myoclonus, Parkinsonism, Rigidity, Memory impairment, Chorea, Tremo... ORPHA:401901
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia, Nephritis OMIM:274240
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter, Lymphadenopathy ORPHA:97285
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Memory impairment, Myoclonic status epilep... OMIM:614018
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait distur... OMIM:618090
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Weight loss, Lymphadenopathy ORPHA:142
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Mental deteri... OMIM:607454
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Progressive neurologic deterioration, Truncal ataxia, F... OMIM:616230
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Small for gestational age OMIM:609152
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tr... OMIM:615924
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Torsion dystonia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (... ORPHA:98811
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Blepharochalasis And Double Lip
Goiter OMIM:109900
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Hypocalcemia, Graves disease, Euthyroid goiter, Sialadenitis,... ORPHA:64744
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... ORPHA:98762
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... ORPHA:424
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Jaundice, Hypothyroidism ORPHA:226292
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Myoclonus, Difficulty walking, Bilateral tonic-clonic se... OMIM:619191
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia, Goiter, Thrombocytopenia ORPHA:83601
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Abnormality of extrapyramidal mot... ORPHA:99
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... ORPHA:99819
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... OMIM:615108
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Pendred Syndrome
Thyroid carcinoma, Nephropathy, Hypothyroidism, Hyperparathyroidism, Goiter ORPHA:705
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... ORPHA:562
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... OMIM:615109
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Focal impaired awareness seizure, Dysmetria, Limb ataxia, I... OMIM:117360
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Mem... OMIM:618317
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, G... OMIM:618093
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:382
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibo... ORPHA:525731
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... OMIM:617145
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scolio... OMIM:300718
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis, Small for gestational age ORPHA:85288
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... OMIM:158350
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Social and occupational deterioration, Axial dystonia, Blepharospasm, P... ORPHA:240071
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Medullary thyroid carcinoma, Pheochromocytoma, Scoliosis, Hyperlordosis, Elevated calci... OMIM:162300
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Alstrom Syndrome
Kyphosis, Hyperinsulinemia, Hepatomegaly, Nephritis, Decreased response to growth hormone stimula... OMIM:203800
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... ORPHA:101
Sandhoff Disease
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Mohr-Tranebjaerg Syndrome
Mental deterioration, Tremor, Spasticity, Dystonia, Abnormal posturing OMIM:304700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Small for gestational age OMIM:618392
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis OMIM:618234
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Congenital Hypothyroidism
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dysgenesi... ORPHA:442
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysmetria, Cognitive impairment, Generalized myoclonic seizure, Spastic paraparesis, Dysd... OMIM:614487
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Cognitive impairment, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:280219
Perry Syndrome
Akinesia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Dystonia, Weight loss, Frontotemporal dem... OMIM:168605
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroidism, Ectopic... OMIM:218700
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Cognitive impairment, Parkinsonism, Ri... ORPHA:48818
Ataxia-Oculomotor Apraxia 4
Ataxia, Cognitive impairment, Oculomotor apraxia, Dystonia, Tetraplegia OMIM:616267
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si... ORPHA:97349
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Abnormality of extrapyramidal motor function, Memory impairme... ORPHA:306682
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Rigidity, ... OMIM:616840
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Micropenis, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, Obesity, Crypto... OMIM:301900
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Recessive Mitochondrial Ataxia Syndrome
Ataxia, Dysmetria, Impaired vibratory sensation, Cognitive impairment, Positive Romberg sign, Lim... ORPHA:94125
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait OMIM:619405
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Elevate... OMIM:171400
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Blepharospasm, Bradykinesia, Hyperactivity, Mental deterioration, Abnormality o... OMIM:234200
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... ORPHA:652
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:98759
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Elevated circulating parathyroid hormone level, Cervical lymphadenop... ORPHA:653
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... ORPHA:411602
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis, Abnormal circulating creatine kin... OMIM:618484
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia ORPHA:98771
Cowden Syndrome
Kyphosis, Failure to thrive, Abnormality of the thyroid gland, Abnormal penis morphology, Scolios... ORPHA:201
Autosomal Recessive Spastic Paraplegia Type 75
Dysmetria, Impaired vibratory sensation, Babinski sign, Abnormal pyramidal sign, Spastic parapleg... ORPHA:459056
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... OMIM:609813
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Hyperthyroidism, Elevated circulating creatine kinase concentration, Nocturia,... ORPHA:254892
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Anemia, Scoliosis, Delayed puberty ORPHA:2598
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Hypo... ORPHA:209905
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Kyphosis, Scoliosis ORPHA:276630
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Akinesia, Tongue fasciculations OMIM:618822
Cowden Syndrome 7
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin... ORPHA:90673
Fetal Akinesia Deformation Sequence 4
Kyphosis, Cryptorchidism, Short neck OMIM:618393
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Impaired distal vibrat... ORPHA:98768
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Abnormal form of the vertebral bodies, Type I diabetes melli... ORPHA:371428
Winchester Syndrome
Kyphosis OMIM:277950
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperlordo... ORPHA:3085
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice OMIM:618512
Ataxia With Vitamin E Deficiency
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... OMIM:277460
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Akinesia, Hypertonia, Generalized tonic seizure, Small for gestational age, Sp... OMIM:619147
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Pallister-Hall Syndrome
Distal urethral duplication, Precocious puberty, Decreased response to growth hormone stimulation... OMIM:146510
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Ataxia, Inability to walk, Titubation, Difficulty walking, Lower limb spastici... ORPHA:280210
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis, Truncal obesity ORPHA:2429
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Type II diabetes mellitus, Abnormal circulating lipid concentration, Short neck, Scolio... ORPHA:3191
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Epilepsy, Progressive Myoclonic, 10
Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Cognitive impairment, Myocl... OMIM:616640
Supranuclear Palsy, Progressive, 2
Frontolimbic dementia, Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parki... OMIM:609454
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Flynn-Aird Syndrome
Kyphosis, Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Scoliosis, Prima... ORPHA:2047
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Elevated circulating creatine kinase concentration, Spi... OMIM:615084
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Elevated circulating ... ORPHA:352447
Familial Adenomatous Polyposis
Thyroiditis, Pituitary adenoma, Abnormality of the thyroid gland, Cholangiocarcinoma, Neoplasm of... ORPHA:733
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Failure to thrive, Platyspondyly, Scoliosis OMIM:234250
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Euthyroid goiter OMIM:113650
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive OMIM:618237
Mcdonough Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Cachexia ORPHA:2471
Supranuclear Palsy, Progressive, 1
Frontolimbic dementia, Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parki... OMIM:601104
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Ck Syndrome
Slender build, Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Myopathy, Congenital, Compton-North
Akinesia, Small for gestational age OMIM:612540
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Seizure OMIM:225790
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Cryptorchidism, Short neck, Scoliosis OMIM:611890
Mucolipidosis Iii Gamma
Kyphosis, Increased serum beta-hexosaminidase, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis OMIM:618291
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... OMIM:606612
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scoliosis ORPHA:75840
Shashi-Pena Syndrome
Kyphosis, Scoliosis OMIM:617190
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Cryptorchidism, Short neck, Scoliosis ORPHA:178148
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Thrombocytopenia, Abnormality of the submandibular glands, Tu... ORPHA:79078
Unilateral Polymicrogyria
Status epilepticus, Pseudobulbar paralysis, Focal impaired awareness seizure, Poor fine motor coo... ORPHA:268943
Pten Hamartoma Tumor Syndrome
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma ORPHA:306498
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Kyphosis, Scoliosis OMIM:618124
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Kyphosis, Renal insufficiency OMIM:248760
Weismann-Netter Syndrome
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies, Anemia ORPHA:3344
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis, Obesity, Puberty and gonadal disorders, Urinary incontinence ORPHA:464282
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Scoliosis, Small for gestational age ORPHA:352490
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase... OMIM:248800
Baralle-Macken Syndrome
Kyphosis, Obesity, Urinary incontinence OMIM:619255
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Failure to thrive, Scoliosis, Hyperlordosis, Mildly elevated creatine k... ORPHA:536516
Urban-Rogers-Meyer Syndrome
Kyphosis, Hypoplasia of penis, Abnormality of the ureter, Short neck, Hypogonadism, Obesity, Cryp... ORPHA:3409
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter ORPHA:276399
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Hypospadias, Abnormality of the ureter, Short neck, H... ORPHA:2522
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Abnormal posturing OMIM:614857
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Scoliosis, Hypertriglyceridemia, Diabetes mellitus, Cryptorchidism, Hepat... OMIM:615381
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Short neck, Polycystic kidney dysp... OMIM:608776
Alpha-Mannosidosis
Kyphosis, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Short neck, Scoliosis ORPHA:61
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Cryptorchidism, Scoliosis, Hydronephrosis OMIM:619797
Clark-Baraitser syndrome
Obesity, Kyphosis, Scoliosis, Macroorchidism OMIM:300602
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Failure to thrive, Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyro... ORPHA:3047
Sialidosis Type 2
Kyphosis, Nephropathy, Hepatomegaly, Splenomegaly ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Myofibrillar Myopathy 10
Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Cryptorchidism, Scoliosis ORPHA:2617
Widow'S Peak Syndrome
Kyphosis, Cryptorchidism OMIM:314570
Fucosidosis
Kyphosis, Failure to thrive, Hepatomegaly, Anterior beaking of lumbar vertebrae, Hypothyroidism, ... ORPHA:349
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Kyphosis, Scoliosis OMIM:300676
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Srd5A3-Cdg
Kyphosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Microcytic anemi... ORPHA:324737
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis, Small for gestational age OMIM:615834
Metatropic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal intervertebral disk morpholo... ORPHA:2635
Alg1-Cdg
Kyphosis, Nephrotic syndrome, Scoliosis, Renal insufficiency, Hypoalbuminemia ORPHA:79327
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Thyroid Ectopia
Hypothyroidism, Abnormality of the thyroid gland, Jaundice, Ectopic thyroid ORPHA:95712
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Chronic kidney disease, Proteinuria, Hyperuricemia, Obesity, Vesicoureteral reflux ORPHA:261222
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Exercise-... OMIM:607155
Gaucher Disease, Perinatal Lethal
Akinesia, Decreased body weight, Opisthotonus, Progressive neurologic deterioration, Seizure OMIM:608013
Atkin-Flaitz Syndrome
Obesity, Kyphosis, Scoliosis, Macroorchidism OMIM:300431
Schaaf-Yang Syndrome
Kyphosis, Micropenis, Scoliosis, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy OMIM:615547
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Micropenis, Hypospadias, Decreased testicular size, Hypogonadism, De... OMIM:300354
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty OMIM:180870
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... OMIM:610475
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... OMIM:156530
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:98855
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... ORPHA:226307
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hyp... OMIM:219080
Ullrich Congenital Muscular Dystrophy 1
Slender build, Kyphosis, Failure to thrive, Spinal rigidity, Scoliosis, Mildly elevated creatine ... OMIM:254090
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Short neck, Elevat... ORPHA:98863
Harrod Syndrome
Kyphosis, Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Scoliosis, Cryptorchidism ORPHA:2115
Thyroid Hypoplasia
Hypothyroidism, Jaundice, Thyroid hypoplasia ORPHA:95720
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:300280
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Decreased response to growth hormone stimulation test, Small for ges... ORPHA:94065
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
19P13.12 Microdeletion Syndrome
Kyphosis, Precocious puberty, Hyperlipidemia, Hypospadias, Short neck, Scoliosis, Hypothyroidism,... ORPHA:254346
Mucopolysaccharidosis Type 6
Kyphosis, Failure to thrive, Splenomegaly, Short neck, Mucopolysacchariduria, Ovoid vertebral bodies ORPHA:583
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Gaucher Disease Type 1
Kyphosis, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tract obstruction... ORPHA:77259
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis, Urinary incontinence OMIM:614409
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Kyphosis, Pituitary adenoma, Hypokalemia, Abdominal obesity, Increased circulati... OMIM:219090
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Dpagt1-Cdg
Focal motor seizure, Ataxia, Inability to walk, Akinesia, Failure to thrive, Generalized myocloni... ORPHA:86309
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Hypoplasia of penis, Short neck, Spina bifida occulta, Hypogonadism ORPHA:2983
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Scol... ORPHA:2311
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... ORPHA:98853
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Kyphosis, Hepatomegaly, Anterior beaking of lumbar verteb... OMIM:253000
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Sialidosis Type 1
Kyphosis, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Scoliosi... ORPHA:812
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, G... OMIM:169400
Becker Nevus Syndrome
Kyphosis, Scoliosis, Supernumerary nipple, Spina bifida occulta ORPHA:64755
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Genitopalatocardiac Syndrome
Kyphosis, Hypospadias, Multicystic kidney dysplasia, Scoliosis, Abnormality of the gallbladder, A... ORPHA:2075
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Hypospadias, Scoliosis, Hydronephrosis OMIM:616449
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Diastrophic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cryptorchidism, Hypoplastic cervical ... ORPHA:628
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Bruck Syndrome 1
Vertebral wedging, Kyphosis, Platyspondyly, Scoliosis OMIM:259450
Triosephosphate Isomerase Deficiency
Cholelithiasis, Kyphosis, Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, ... OMIM:615512
Mucopolysaccharidosis, Type Vii
Kyphosis, Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Dermatan ... OMIM:253220
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Vacuolated lym... OMIM:230500
Mucopolysaccharidosis, Type Ivb
Kyphosis, Hepatomegaly, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical... OMIM:253010
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scolio... ORPHA:171436
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Hematuria, Abnormality of vertebral epiphysis morphology, Delayed puberty, C... ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Cryptorchidism, Short neck, Hypoplasia of penis ORPHA:3082
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Failure to thrive in infancy, Cachexia ORPHA:702
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Scoliosis, Elevated 8(9)-cholestenol, Adrenal hypoplasia, Vertebral hy... OMIM:308050
Vici Syndrome
Failure to thrive, Abnormal posturing, Seizure OMIM:242840
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... ORPHA:93314
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circula... OMIM:300942
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Kyphosis, Micropenis, Scoliosis, Hydronephrosis, Cryptorchidism ORPHA:364028
Mend Syndrome
Kyphosis, Cryptorchidism OMIM:300960
African Trypanosomiasis
Akinesia, Fasciculations, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Difficulty ... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Hypergonadotropic hypogonadism, Hy... OMIM:212065
Trisomy 13
Kyphosis, Abnormality of the ureter, Scoliosis, Multiple renal cysts, Hydronephrosis, Displacemen... ORPHA:3378
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Atlantoaxial instability, Platyspondyly, Scoliosis, Hypopl... OMIM:607326
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
4Q21 Microdeletion Syndrome
Kyphosis, Short neck, Scoliosis ORPHA:238750
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Hypospadias, Ureteral duplication, Scoliosis, Hypothyroi... ORPHA:96169
Frank-Ter Haar Syndrome
Kyphosis, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Kyphosis, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Sm... ORPHA:398069
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Hypoplasia of penis, Cachexia, Short neck, Scoliosis, Decreased testicular size, Hypogo... ORPHA:85293
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Kyphosis, Decreased response to growth hormone stimulation test, Hemivertebra... OMIM:618223
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies ORPHA:3098
Hurler-Scheie Syndrome
Kyphosis, Hepatomegaly, Splenomegaly, Dermatan sulfate excretion in urine, Heparan sulfate excret... OMIM:607015
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Kyphosis, Kyphoscoliosis, Small for gestational age, Platyspondyly, Scoliosis, Abnormality of the... ORPHA:93360
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Cachexia ORPHA:1969
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Dystonia, Hand tremor OMIM:618947
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Supernumerary nipple, Micropenis, Unilateral renal agenesis, Scoliosis, Cryptorchidism,... OMIM:619951
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Achondroplasia
Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... ORPHA:15
Gm1 Gangliosidosis
Kyphosis, Failure to thrive, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal... ORPHA:354
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:2655
Stüve-Wiedemann Syndrome
Hypothyroidism, Scoliosis, Ectopic thyroid, Sacral dimple ORPHA:3206
Desbuquois Dysplasia 1
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Obesity OMIM:251450
Marden-Walker Syndrome
Kyphosis, Micropenis, Hypospadias, Short neck, Scoliosis, Renal hypoplasia, Cryptorchidism OMIM:248700
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Kyphosis, Failure to thrive, Hydroxyprolinemia, Hypercalciuria, Hyperphosphate... OMIM:239000
Emanuel Syndrome
Kyphosis, Micropenis, Scoliosis, Renal hypoplasia, Cryptorchidism OMIM:609029
3C Syndrome
Kyphosis, Hypoplasia of penis, Hypospadias, Hemivertebrae, Short neck, Scoliosis, Adrenal hypopla... ORPHA:7
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Progressive Non-Infectious Anterior Vertebral Fusion
Kyphosis, Spinal rigidity, Hemivertebrae, Abnormality of the vertebral column, Scoliosis, Abdomin... ORPHA:2062
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Kyphosis, Scoliosis, Hypercholesterolemia ORPHA:2479
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Plat... ORPHA:261318
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... OMIM:183900
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Hepatomegaly, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis, Obesity OMIM:618443
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... ORPHA:94068
Pycnodysostosis
Kyphosis, Spondylolisthesis, Decreased response to growth hormone stimulation test, Spondylolysis... ORPHA:763
Spondyloenchondrodysplasia
Kyphosis, Chronic kidney disease, Decreased response to growth hormone stimulation test, Platyspo... ORPHA:1855
Cockayne Syndrome Type 2
Kyphosis, Hepatomegaly, Scoliosis, Male hypogonadism, Cryptorchidism ORPHA:90322
Trisomy 9P
Kyphosis, Short neck, Scoliosis, Sacral dimple ORPHA:236
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Mucopolysac... ORPHA:582
Distal Tetrasomy 15Q
Hydrocele testis, Kyphosis, Scoliosis, Large for gestational age, Polycystic kidney dysplasia, Ho... ORPHA:314588
16P13.2 Microdeletion Syndrome
Kyphosis, Failure to thrive, Micropenis, Scoliosis, Hypogonadism, Cryptorchidism, Overweight ORPHA:500055
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly OMIM:616482
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Hurler Syndrome
Kyphosis, Hepatomegaly, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Short neck, Dermatan ... OMIM:607014
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Scoliosis, Delayed puberty, Cry... OMIM:619718
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Platyspondyly, Scoliosis, Morbus Scheue... OMIM:108300
Rett Syndrome
Kyphosis, Scoliosis, Cachexia OMIM:312750
Treacher-Collins Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the adrenal glands, Hypoplasia of the thym... ORPHA:861
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Short neck, Scoliosis, Urinary incontinence OMIM:301041
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Short neck, Scoliosis ORPHA:420794
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cryptorchidism, Asplenia, Abdominal situs inversus OMIM:619123
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Phace Association
Congenital hypothyroidism, Lingual thyroid OMIM:606519
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Kyphosis, Scoliosis OMIM:609128
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Micro Syndrome
Kyphosis, Hypoplasia of penis, Scoliosis, Delayed puberty, Hydronephrosis, Cryptorchidism ORPHA:2510
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Pseudoachondroplasia
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... OMIM:177170
Microphthalmia, Lenz Type
Kyphosis, Hypospadias, Hydroureter, Scoliosis, Hyperlordosis, Hydronephrosis, Cryptorchidism ORPHA:568
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Hypocalcemia OMIM:618476
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hemiverteb... OMIM:301040
3M Syndrome
Kyphosis, Increased vertebral height, Hypospadias, Short neck, Scoliosis, Hyperlordosis ORPHA:2616
2P15P16.1 Microdeletion Syndrome
Kyphosis, Failure to thrive, Supernumerary nipple, Multicystic kidney dysplasia, Scoliosis, Decre... ORPHA:261349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis, Decreased serum testosterone concentration, Cryptorchidism, Small... ORPHA:2232
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestat... ORPHA:464311
Fountain Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:3219
Mucopolysaccharidosis, Type Ii
Kyphosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Short neck, Dermatan sulfate excretion ... OMIM:309900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Lumbar hyperlordosis, Hepatomegaly, Lymphopenia, Increased intervertebral space, Cervic... ORPHA:508533
Camurati-Engelmann Disease
Slender build, Kyphosis, Hepatomegaly, Splenomegaly, Cachexia, Leukopenia, Abnormality of the ver... ORPHA:1328
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Decreased body weight, Hepatomegaly, Micropenis, Decreased hemoglobin concentration, Sc... OMIM:619005
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Cryptorchi... ORPHA:2789
Koolen-De Vries Syndrome
Kyphosis, Failure to thrive, Spondylolisthesis, Small for gestational age, Scoliosis, Hydronephro... OMIM:610443
Jaberi-Elahi Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:617988
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Prader-Willi Syndrome
Adrenal insufficiency, Kyphosis, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, ... OMIM:176270
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestat... ORPHA:464306
Alkaptonuria
Nephrolithiasis, Kyphosis, Decreased glomerular filtration rate, Intervertebral disc degeneration... OMIM:203500
Lateral Meningocele Syndrome
Kyphosis, Short neck, Biconcave vertebral bodies, Scoliosis, Cryptorchidism, Vertebral fusion OMIM:130720
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Cryptorchidism, Scoliosis ORPHA:404440
Lowe Oculocerebrorenal Syndrome
Kyphosis, Failure to thrive, Aminoaciduria, Cryptorchidism, Proximal renal tubular acidosis, Plat... OMIM:309000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Alexander Disease
Kyphosis, Failure to thrive, Precocious puberty, Short neck, Scoliosis, Hyperlordosis, Hypothyroi... ORPHA:58
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Scoliosis, Hypercalcemia, Urinary incontinence ORPHA:476126
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Mgat2-Cdg
Kyphosis, Abnormality of the endocrine system, Failure to thrive, Scoliosis, Hypoplastic nipples,... ORPHA:79329
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal circulating creatine kinase concentration, Kyphosis, Cryptorchidism, Scoliosis ORPHA:2215
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Schwartz-Jampel Syndrome
Nephrolithiasis, Kyphosis, Decreased body weight, Spinal rigidity, Abnormally straight spine, Abn... ORPHA:800
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis, Urinary incontinence ORPHA:88644
Cohen Syndrome
Kyphosis, Scoliosis, Delayed puberty, Neutropenia, Obesity, Cryptorchidism, Failure to thrive in ... ORPHA:193
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Kyphosis, Scoliosis, Cryptorchidism, Thrombocytopenia ORPHA:261250
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Scoliosis, Fused cervical vertebr... ORPHA:1724
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Dyggve-Melchior-Clausen Disease
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... OMIM:223800
Noonan Syndrome 14
Kyphosis, Cryptorchidism, Short neck, Lymphopenia OMIM:619745
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... ORPHA:2166
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:1005
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis ORPHA:958
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Kyphosis, Scoliosis OMIM:618493
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Thanatophoric Dysplasia Type 1
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:1860
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Short neck, Scoliosis, Hydronephrosis ORPHA:140
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... ORPHA:672
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis OMIM:166220
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Hematuria, Pro... ORPHA:534
Hajdu-Cheney Syndrome
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly, Hypospadias, Short neck, Biconcave verte... ORPHA:955
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Congenital hypothyroidism OMIM:617527
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Ureterocele, Hypospadias, Hemivertebrae, Short neck, Sco... ORPHA:2911
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Hypertriglyceridemia, Diabetes mellitus, Cryptorchi... ORPHA:536532
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Kyphosis, Male urethral meatus stenosis, Hypospadias, Scoliosis, Hydronephrosis ORPHA:464738
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Hypocalcemia, Decreased response to growth hormone stimulation... OMIM:619503
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Abnormality of the endocrine system, Kyphosis, Decreased response to growth hormone stim... ORPHA:268261
Multiple Pterygium Syndrome, Escobar Variant
Kyphosis, Anterior clefting of vertebral bodies, Hypospadias, Short neck, Scoliosis, Hypoplastic ... OMIM:265000
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Kyphosis, Precocious puberty, Spondylolisthesis, Decreased response to growth horm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Kyphosis, Precocious puberty, Spondylolisthesis, Decreased response to growth horm... ORPHA:363958
Marden-Walker Syndrome
Kyphosis, Failure to thrive, Abnormal penis morphology, Hypospadias, Hydroureter, Multicystic kid... ORPHA:2461
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Kyphosis, Platyspondyly, Hyposegmentation of neutrophil nuclei, Hyperlordosis, Thoracolumbar scol... OMIM:618019
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
1P36 Deletion Syndrome
Annular pancreas, Kyphosis, Spinal canal stenosis, Failure to thrive, Hypoplasia of penis, Hyposp... ORPHA:1606
Wolf-Hirschhorn Syndrome
Kyphosis, Failure to thrive, Hypospadias, Abnormality of the vertebral column, Scoliosis, Abnorma... ORPHA:280
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Back pain, Sacroiliac arthritis OMIM:106300
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Micropenis, Short neck, Scoliosis, Cryptorchidism, Vesicoureteral reflux, Sacral dimple OMIM:616894