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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 thyroid gland morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating alkaline phosphatase level Fgf14em1(IMPC)Ccpcz HOM Early adult 7.38×10-05
preweaning lethality, incomplete penetrance Fgf14em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged thyroid gland Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fgf14em1(IMPC)Ccpcz HOM Early adult 0.00
kyphosis Fgf14em1(IMPC)Ccpcz HOM   Early adult 2.11×10-07
abnormal kidney morphology 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 3.67×10-05
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

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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 Forepaw

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XRay Images Skull Lateral Orientation

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XRay Images Hind Leg and Hip

36 Images

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral 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, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... OMIM:188570
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Pendred Syndrome
Compensated hypothyroidism, Increased circulating thyroglobulin level, Thyroid carcinoma, Goiter OMIM:274600
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Dysphagia, Opisthotonus, Spasticity, Seizure, Weight los... ORPHA:216866
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Cognitive impa... ORPHA:401901
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... OMIM:606693
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tremor, Limb ataxia, G... OMIM:607454
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babins... ORPHA:225147
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... OMIM:614820
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:208700
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti... ORPHA:99832
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... ORPHA:95716
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... ORPHA:95715
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia OMIM:125370
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration OMIM:616187
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chore... OMIM:619150
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Glutaric Aciduria Iii
Glutaric aciduria, Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Hyperthyroidism, Goiter OMIM:188580
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... OMIM:605021
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... OMIM:609152
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... OMIM:615924
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... ORPHA:382
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic... OMIM:619191
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... OMIM:618090
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss, ... ORPHA:1332
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, D... OMIM:300894
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Aggressive behavior, Rigidity, Chore... OMIM:607136
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Manganese Poisoning
Dystonia, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rig... ORPHA:306682
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chorea, Babinsk... OMIM:618093
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Blepharochalasis And Double Lip
Goiter OMIM:109900
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Weight loss, Bradykinesia, Ina... OMIM:168605
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... ORPHA:90673
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Impulsivity, Tremor, Park... ORPHA:240071
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generali... OMIM:619028
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... ORPHA:226316
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... ORPHA:228360
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... ORPHA:562
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... ORPHA:284324
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... OMIM:618317
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity, Dysphagia, Mental deterioration, Abnormal posturing OMIM:304700
Pediatric-Onset Graves Disease
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... ORPHA:525731
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto... OMIM:612716
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Decreased cir... ORPHA:90674
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Increased serum serotonin ORPHA:85288
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
3-Methylglutaconic Aciduria, Type I
Short attention span, Ataxia, Spastic tetraplegia, Spasticity, Athetosis, Dementia, Cognitive imp... OMIM:250950
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypergonadotrop... OMIM:203800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheoch... OMIM:162300
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Blepharospasm, Dyssynergia, Impaired proprioception, Oromandibular... ORPHA:101
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... OMIM:614487
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Weight loss, Bradykinesi... ORPHA:411602
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... OMIM:616840
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,... OMIM:619725
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... ORPHA:94125
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Dementia, Gait disturbance, Myoclonus, Ab... OMIM:607822
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... OMIM:606159
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Confusion, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyram... OMIM:607483
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Micropenis, Scheuermann-like verte... OMIM:301900
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Gait ataxia, Seizure, ... ORPHA:98768
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, Obesity OMIM:618822
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatin... OMIM:618484
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Kyphosis, A... ORPHA:201
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Abnormali... ORPHA:254892
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Neonatal death, Short neck OMIM:618393
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Failure to thrive OMIM:618237
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Abnormal form of the vertebral bodies, Polycystic ovaries, Type I diabetes m... ORPHA:371428
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Abn... ORPHA:209905
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gai... OMIM:610217
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Failure to thrive,... OMIM:619147
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Winchester Syndrome
Kyphosis OMIM:277950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death OMIM:611890
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Dementia, My... OMIM:616640
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom... ORPHA:733
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Flynn-Aird Syndrome
Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Branchiootorenal Syndrome 1
Vesicoureteral reflux, Euthyroid goiter, Polycystic kidney dysplasia, Unilateral renal agenesis OMIM:113650
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Scoliosis, A... ORPHA:3191
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis ORPHA:75840
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis, Cryptorchidism ORPHA:2471
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Seizure, Myoclonus, Mental deterioration ORPHA:324290
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... ORPHA:79078
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia ORPHA:3344
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive OMIM:614857
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Baralle-Macken Syndrome
Kyphosis, Urinary incontinence, Obesity OMIM:619255
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Kyphosis, Sco... OMIM:248800
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive, Mildly elevated creatine k... ORPHA:536516
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Obesity, Scoliosis OMIM:618124
Gaucher Disease, Perinatal Lethal
Akinesia, Progressive neurologic deterioration, Opisthotonus, Seizure, Dysphagia, Decreased body ... OMIM:608013
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Small for gestational age, Scoliosis, Cryptorchidism ORPHA:352490
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Puberty and gonadal disorders, Kyphosis, Obesity, Scoliosis ORPHA:464282
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure to t... OMIM:608776
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... ORPHA:86309
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormality of the ureter, Obesity, Hy... ORPHA:3409
Alg1-Cdg
Renal insufficiency, Kyphosis, Nephrotic syndrome, Hypoalbuminemia, Scoliosis ORPHA:79327
Sialidosis Type 2
Splenomegaly, Kyphosis, Nephropathy, Hepatomegaly ORPHA:87876
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis ORPHA:61
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hydronephrosis, Scoliosis, Cryptorchidism OMIM:619797
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Failure to thrive, Hypothy... ORPHA:3047
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney, Large for gestational age OMIM:618272
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Myofibrillar Myopathy 10
Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Small for gestational age, Scoliosis OMIM:615834
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... OMIM:606612
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Anterior beaking o... ORPHA:349
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Kyphosis, Chronic kidney disease, Obesity, Hyperuricemia, Vesicoureteral reflux ORPHA:261222
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... OMIM:607155
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia OMIM:225790
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Kyphosis, Cryptorchidism, Scoliosis, Male ... OMIM:615381
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Ky... ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Micropen... OMIM:300354
Thyroid Ectopia
Abnormality of the thyroid gland, Jaundice, Hypothyroidism, Ectopic thyroid ORPHA:95712
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98855
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... ORPHA:324737
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Truncal obesity, Increas... OMIM:219080
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build, Mildly elevated creatine ... OMIM:254090
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Short neck, ... ORPHA:98863
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hypokale... OMIM:219090
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Micropenis, Decreased testicular size, Cryptorchidism OMIM:615433
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Cryptor... ORPHA:254346
Thyroid Hypoplasia
Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism OMIM:180870
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Scoliosis, Increase... OMIM:300280
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly,... ORPHA:77259
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98853
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive ORPHA:2115
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Urinary incontinence, Scoliosis OMIM:614409
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Mucopolysacchariduria, Failure to thrive ORPHA:583
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Ag... ORPHA:3385
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... OMIM:169400
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Kyphosis, Increased urinary O-lin... ORPHA:812
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... OMIM:308050
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis ORPHA:64755
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r... ORPHA:171436
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Kyphosis, Jaundice, Sp... OMIM:615512
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Abnormal mesentery morphology, Abnormality o... ORPHA:2075
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... OMIM:300942
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Hematuria, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis mor... ORPHA:3121
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Gm1-Gangliosidosis, Type I
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral b... OMIM:230500
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Kyphosis, Renal cys... OMIM:212065
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Micropenis, Scoliosis,... OMIM:619951
Trisomy 13
Kyphosis, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Scoliosis, Displacemen... ORPHA:3378
Arthrogryposis Multiplex Congenita 5
Dystonia, Hypertonia, Akinesia, Hand tremor OMIM:618947
Emanuel Syndrome
Sacral dimple, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Renal hypoplasia, Scoliosis, ... OMIM:609029
Koolen-De Vries Syndrome
Vertebral fusion, Ureteral duplication, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segmenta... ORPHA:96169
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Short neck, Kyphosis, Obesity, Hypogonadism, Scoliosis, Decreased ... ORPHA:85293
Hurler-Scheie Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret... OMIM:607015
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal death, Mildly elevated creatin... OMIM:620351
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Kyphosis, Cryptorchidism, Increased body weight, Absence ... ORPHA:398069
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion... OMIM:253220
Stüve-Wiedemann Syndrome
Ectopic thyroid, Sacral dimple, Hypothyroidism, Scoliosis ORPHA:3206
Vici Syndrome
Seizure, Abnormal posturing, Failure to thrive, Dysphagia OMIM:242840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Cachexia, Scoliosis ORPHA:1969
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Hydroxyprolinemia, Hypercalciuria, Hyperphosph... OMIM:239000
3C Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short neck, Kyphosis, Hemivertebrae, Scolio... ORPHA:7
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Renal hypoplasia, Scoliosis, Micropenis OMIM:248700
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis OMIM:618443
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... ORPHA:1855
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Kyphosis, Hypothyroidism, Scoliosis ORPHA:2479
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Distal Triplication 15Q
Large for gestational age, Kyphosis, Horseshoe kidney, Hydrocele testis, Scoliosis, Polycystic ki... ORPHA:314588
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormality of the ureter, Abnormal form of th... ORPHA:261318
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis, Failure to thrive ORPHA:500055
Hurler Syndrome
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,... OMIM:607014
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Treacher-Collins Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the vertebral column, Hypoplasia of the thymu... ORPHA:861
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Urinary incontinence, Scoliosis, Short neck OMIM:301041
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,... ORPHA:582
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Micro Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Hydronephrosis ORPHA:2510
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... OMIM:620186
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorchidism, Scoliosis, ... OMIM:610443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Hypospadias, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Rena... ORPHA:464311
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis, Hydronephrosis ORPHA:568
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Kyphosis, Hydronephrosis, Hypogonadism, Scoli... ORPHA:261349
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Kyphosis, Cryptorchidism, Abs... ORPHA:2232
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Kyphosis, Splenomegaly, Dermatan su... OMIM:309900
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Unilateral renal agenesis OMIM:617190
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hemive... OMIM:301040
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the ver... ORPHA:1328
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Jaberi-Elahi Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:617988
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus, Cryptorchidism OMIM:619123
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Alexander Disease
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Scoliosis, Failure to... ORPHA:58
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,... ORPHA:464306
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive OMIM:617602
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Kyphosis, Cryptorchidism, Scoliosis, Decreased ... OMIM:619005
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:404440
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Kyphosis, Scoliosis, Failure to thrive ORPHA:476126
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Neutropenia, Delayed ... ORPHA:193
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Cachexia, Hype... ORPHA:800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Abnormal circulating creatine kinase concentration, Scoliosis, Cryptorchidism ORPHA:2215
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly, Neonatal death OMIM:616482
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave ... OMIM:130720
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothal... ORPHA:2166
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocrine system, ... ORPHA:79329
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Urinary incontinence, Scoliosis ORPHA:88644
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Hypospadias, Hydronephrosis, Scoliosis OMIM:616449
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia OMIM:618476
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
16Q24.3 Microdeletion Syndrome
Kyphosis, Cryptorchidism, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia ORPHA:261250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Sacral dimple, Thoracolumbar scoliosis, Decreased response to growth hormone st... OMIM:619503
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Congenital hypothyroidism OMIM:617527
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Horseshoe kidney, Fused cervic... ORPHA:1724
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Obesity, Scoliosis OMIM:618493
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypospadias, Adrenal hypoplasia, Large for gestational age, Precocious pubert... ORPHA:672
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Lymphopenia, Short neck OMIM:619745
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis ORPHA:140
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, ... ORPHA:955
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Cholelithiasis, Hydronephrosis ORPHA:464738
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Slender build, Decreased response to growth hormone stimulation test, Testicular n... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Slender build, Decreased response to growth hormone stimulation test, Testicular n... ORPHA:363958
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Small for gestational age, Decreased response to growth hormone stimulation test, ... ORPHA:268261
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Kypho... ORPHA:536532
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Poland Syndrome
Diabetes mellitus, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Renal hypopl... ORPHA:2911
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical verteb... OMIM:265000
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Kyphosis, Epis... ORPHA:2461
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conce... OMIM:620185
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,... OMIM:602535
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Kyphosis, Cryptorchidism, Abnormality of the... ORPHA:1606
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Abnormality of th... ORPHA:251014
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Kyphosis, Cryptorchidism, Abnormality of the gallbladder, Abnormal fo... ORPHA:280
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Vesicoureteral reflux, Micropenis OMIM:616894
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Mend Syndrome
Sacral dimple, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cryptorchidism... ORPHA:401973
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria, Kyphosis, Splenomegaly... OMIM:133540
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, C... ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Monosomy 9Q22.3
Ovarian fibroma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral co... ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Scoliosis OMIM:618050
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Kyphosis, Cryptorchidism, Splenomegaly, Thymic ho... OMIM:216400
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Cryptorchidism, Kyphosi... OMIM:619194
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Cdags Syndrome
Rectourethral fistula, Kyphosis, Hypospadias OMIM:603116
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Crossed fused renal ectopia, Failure to thrive OMIM:300960
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive ORPHA:521426
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Kyphosis, Cryptorch... ORPHA:1507
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ky... OMIM:304150
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... ORPHA:99226
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondyloly... OMIM:208400
Zttk Syndrome
Absent gallbladder, Polyuria, Unilateral renal agenesis, Kyphosis, Hemivertebrae, Horseshoe kidne... OMIM:617140
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Micropenis, Slender build ORPHA:457359
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Ectopic kidney, Kyphosis, Cryptorchidism, Abnormality of the Leydig ... ORPHA:3063
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short neck, Kyphosis, Cryptorchid... ORPHA:818
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Failure to thrive, Hypospadias, Overweight, Kyphosis, Jaundice, Obesity, Abnormal curv... OMIM:619475
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal form of the ver... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis, Delayed puberty, Slender build OMIM:300967
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Hypospadias, Precoc... OMIM:194190
Mucolipidosis Type Ii
Splenomegaly, Kyphosis, Weight loss, Hepatosplenomegaly ORPHA:576
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Kyphosis, Enlarged pol... ORPHA:744
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Kyphosis, Epispadias, Cryptorchidism, Hypogonadism, Scoli... ORPHA:2658
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia OMIM:619708
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Classic Homocystinuria
Kyphosis, Scoliosis, Hepatomegaly ORPHA:394
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Osteogenesis Imperfecta
Small for gestational age, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Nephrolit... ORPHA:666
Autosomal Recessive Spastic Paraplegia Type 35
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna ORPHA:171629
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... ORPHA:64
Neurofibromatosis Type 1
Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chronic myelog... ORPHA:636
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Platyspondyly, Scoliosis ORPHA:198
Stickler Syndrome
Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, ... ORPHA:828
Marfan Syndrome
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Urinary incontinence, Scoliosis OMIM:619482
Cerebrocostomandibular Syndrome
Kyphosis, Multicystic kidney dysplasia ORPHA:1393
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Failur... ORPHA:2273
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Sotos Syndrome
Sacrococcygeal teratoma, Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, P... ORPHA:821
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Renovascular hypertension, Glomus jugular tumor, Abnormality of the... ORPHA:97685
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050
Coffin-Siris Syndrome 1
Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Cryptorchidism, Renal hypoplas... OMIM:135900
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Wrinkly Skin Syndrome
Kyphosis, Failure to thrive, Scoliosis, Cryptorchidism OMIM:278250
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Renal cys... OMIM:113620
Viss Syndrome
Kyphosis, Hypereosinophilia, Scoliosis, Failure to thrive, Hypothyroidism, Hydronephrosis, Butter... OMIM:619472
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Yunis-Varon Syndrome
Absent nipple, Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to th... OMIM:216340

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 Fgf14

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 Fgf14.

No publications found that use IMPC mice or data for Fgf14.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fgf14em1(IMPC)Ccpcz Exon Deletion Mice
Fgf14tm40450(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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