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Gene: Prkn MGI:1355296

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
parkin RBR E3 ubiquitin protein ligase
Synonyms:
Park2,  Parkin,  PRKN

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prkn 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 Prkn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Gait disturbance, Cerebral atrophy OMIM:600116
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Ovarian Cancer
OMIM:167000
Lung Cancer
OMIM:211980

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Kyphosis, Gait disturbance, Scoliosis OMIM:611225
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Memory impairment, Disinhibition, Depression OMIM:608907
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... OMIM:619132
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability to walk, Kyphosis, Cereb... OMIM:616756
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Tip-toe gait, Gait disturban... OMIM:617404
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... OMIM:500013
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs, Abnormal mitochondr... ORPHA:99013
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Hypertrichosis ORPHA:85317
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Respiratory insufficiency due to muscle weakn... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Difficulty walking OMIM:617087
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Scoliosis, Brain atrophy, Short stepped... ORPHA:391411
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Ataxia, Kyphoscoliosis OMIM:136300
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Memory impairment, Dementia, Aggressive behavior OMIM:606688
Hypomelanosis Of Ito
Alopecia, Kyphosis, Cerebral atrophy, Gray matter heterotopia, Scoliosis OMIM:300337
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism OMIM:300861
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Abnormal respiratory system physiology, Gait disturbance, Scoliosis, Difficu... ORPHA:505652
Fibrodysplasia Ossificans Progressiva
Alopecia, Abnormal vertebral morphology, Respiratory insufficiency, Spinal rigidity ORPHA:337
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru... ORPHA:98764
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Candidiasis, Familial, 1
Alopecia OMIM:114580
L-Ferritin Deficiency
Alopecia OMIM:615604
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hairline, Absent toenail,... OMIM:618658
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Gait disturbance, Scoliosis, Thick eyebrow ORPHA:2429
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis, Abnormal posturing OMIM:128100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Broad-based gait, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Steppag... OMIM:615290
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... OMIM:607485
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Frontotemporal Dementia With Motor Neuron Disease
Gliosis, Abnormal mitochondrial morphology ORPHA:275872
Primary Erythromelalgia
Hypothermia ORPHA:90026
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Kyphoscoliosis, Respiratory insufficiency, Coronal cleft vertebrae, Cerebral cortical a... OMIM:215100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Ataxia ORPHA:3363
Kerion Celsi
Alopecia ORPHA:499
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Dementia DECIPHER:48
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Abnormal posturing ORPHA:216866
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:101075
Huntington Disease-Like 1
Cerebellar atrophy, Dysmetria, Gait ataxia, Gait disturbance, Abnormal posturing, Cerebral cortic... ORPHA:157941
Alzheimer Disease 2
Neurofibrillary tangles, Dementia OMIM:104310
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia, Memory... ORPHA:1020
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... ORPHA:100070
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Masa Syndrome
Kyphosis, Agenesis of corpus callosum, Shuffling gait, Hyperlordosis OMIM:303350
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Cerebral atrophy OMIM:618453
Riboflavin Deficiency
Hypothermia OMIM:615026
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Scoliosis, Nail dyspl... OMIM:615704
Alzheimer Disease, Familial, 1
Neurofibrillary tangles, Dementia OMIM:104300
Flynn-Aird Syndrome
Alopecia, Ataxia, Kyphosis, Scoliosis, Cerebral cortical atrophy ORPHA:2047
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:101078
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Hyperlordosis, Short... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Re... OMIM:606612
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria OMIM:615578
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Scoliosis OMIM:610743
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance, Brain atrophy OMIM:600142
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... OMIM:230650
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Baralle-Macken Syndrome
Global brain atrophy, Inability to walk, Kyphosis, Hirsutism OMIM:619255
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Ciliary dyskinesia, Dystrophic fingernail... ORPHA:1882
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypothermia, Pituitary hypothyroi... ORPHA:90674
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Scoliosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism ORPHA:85288
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Postencephalitic Parkinsonism
Camptocormia, Abnormal substantia nigra morphology, Akinesia, Kyphosis, Abnormal respiratory syst... ORPHA:97349
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Ataxia, Poliosis OMIM:141300
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia ORPHA:98773
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Kyphosis, Unsteady gait, Cerebral atrophy, Scoliosis, Cerebe... OMIM:617435
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Dysmetria, Long eyelashes, Scoliosis, Abnormality of the cervical spine, Cerebr... ORPHA:48431
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Scoliosis OMIM:300434
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Kyphosis, Dy... OMIM:617988
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Akinesia OMIM:616840
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia OMIM:300894
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Apnea, Kyphosis, Patent ductus arteriosus, Cerebral atrophy, Frontal upsweep ... OMIM:619797
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... ORPHA:263297
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Respiratory arrest... OMIM:168605
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Cerebral atrophy, Pulmonary arterial hypertension, Abnormal ... OMIM:614857
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Gait disturbance, Hypertrichosis OMIM:614898
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia OMIM:245400
Alzheimer Disease 3
Neurofibrillary tangles, Memory impairment, Dementia, Dysphagia OMIM:607822
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure,... OMIM:313420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrict... OMIM:607155
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Alopecia, Corpus callosum atrophy, Hypoplasia of the pons, Unsteady gait, Lim... ORPHA:412057
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Gerstmann-Straussler Disease
Aggressive behavior, Neurofibrillary tangles, Emotional lability, Depression, Dementia, Memory im... OMIM:137440
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... OMIM:616455
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Upper limb dysmetria, Limb dysmetria, ... OMIM:614409
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration OMIM:618138
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Thinning of the substantia nigra pars compacta, Akinesia OMIM:619911
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Gait disturbance ORPHA:1875
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Long eyelashes, Scoliosi... ORPHA:3051
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis OMIM:618392
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Inability to walk, Kyphosis, Gait ataxia, Gait disturb... ORPHA:3095
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia OMIM:620007
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Alopecia OMIM:203550
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Impaired propriocep... OMIM:229300
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Meningococcal Meningitis
Fever, Irritability, Hypothermia ORPHA:33475
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Kyphosis, Unsteady gait, Cerebral atrophy, Scoliosis, Difficulty walking ORPHA:464282
Alzheimer Disease 4
Neurofibrillary tangles, Memory impairment, Dementia, Cognitive impairment OMIM:606889
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation OMIM:618124
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism ORPHA:2786
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Ataxia, Gait disturbance ORPHA:99014
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion ORPHA:91130
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number ORPHA:352447
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Generalized hirsutism, Abnormality of the nail ORPHA:317
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Cerebral atrophy, Lateral ventricle dilatation, Small nail, Poly... OMIM:614219
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Alopecia, Agenesis of corpus callosum OMIM:164180
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Akinesia OMIM:225790
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Kyphosis, Low posterior hairline, Premature graying of hair, Vertebral se... ORPHA:2617
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Respirato... OMIM:135100
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Respiratory insufficiency, Choreoathetosis, Gait disturbance, Scoliosis, Cerebr... ORPHA:702
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy OMIM:602541
Rhizomelic Chondrodysplasia Punctata
Alopecia, Spina bifida occulta, Sparse body hair, Scoliosis ORPHA:177
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Dysmetria, Gait ataxia, Dysdiadoch... OMIM:610217
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Gait ataxia, Gait disturbance, Scoliosis ORPHA:88628
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Perisyl... OMIM:618291
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Dyspnea, Kyphosis, Respirato... OMIM:615084
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:616576
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Obesity, Hypothermia OMIM:618493
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Akinesia OMIM:619334
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Pachygyria, Polymicrogyria OMIM:300831
Timothy Syndrome
Hypothyroidism, Hypothermia OMIM:601005
Fetal Akinesia Deformation Sequence
Akinesia, Scoliosis, Respiratory insufficiency ORPHA:994
Myopathy, Centronuclear, 2
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis OMIM:255200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Corpus callosum atrophy, Kyphosis, Low anterior hairline, Hirsutism, Cereb... OMIM:619244
Adrenoleukodystrophy
Alopecia, Neurodegeneration, Limb ataxia, Truncal ataxia OMIM:300100
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Hyper... ORPHA:324737
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... OMIM:618250
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Rett Syndrome
Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ata... OMIM:312750
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Kyphosis, Cerebral atrophy, Gait ataxia ORPHA:500180
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:178148
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis OMIM:618237
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Tachypnea, Ataxia ORPHA:79242
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Gait disturbance, Gait ataxia ORPHA:225147
Congenital Enterovirus Infection
Fever, Irritability, Hypothermia ORPHA:292
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia, Progressive neurologic deterioration OMIM:618329
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Supranuclear Palsy, Progressive, 1
Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Falls, Gait im... OMIM:601104
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Kyphos... OMIM:211530
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha... ORPHA:2269
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... ORPHA:280195
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Scoliosis ORPHA:88630
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Cerebral atrophy, Respiratory failure, Scoliosis ORPHA:79327
Menkes Disease
Hypothermia OMIM:309400
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Depression, Emotional lability, Failure to th... ORPHA:58
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Cerebellar cortical atrophy ORPHA:247234
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Inability to walk, Kyphosis, ... OMIM:618443
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Ane Syndrome
Motor neuron atrophy, Alopecia, Kyphoscoliosis ORPHA:157954
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Abnormal vertebral morphology, Cerebral cortical atrophy, Supernumerary nipple ORPHA:3224
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Cerebellar cortical at... OMIM:248800
Supranuclear Palsy, Progressive, 2
Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration, Falls, Gait imbalance, Neuronal ... OMIM:609454
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Pleural effusion, Sparse body hair ORPHA:69735
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Ataxia, Kyphosis, Dysmetria, Gait disturbance, Scoliosis, Atrophy/Degeneratio... ORPHA:88644
Pontocerebellar Hypoplasia, Type 17
Hypoplasia of the pons, Kyphosis, Patent ductus arteriosus, Low anterior hairline, Respiratory in... OMIM:619909
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid proc... OMIM:253000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia OMIM:618775
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Biotinidase Deficiency
Alopecia, Diffuse cerebral atrophy, Apnea, Ataxia, Tachypnea, Diffuse cerebellar atrophy OMIM:253260
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Ataxia, Gait ataxia ORPHA:543470
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Difficulty walking, Th... OMIM:300280
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis OMIM:181405
Kury-Isidor Syndrome
Alopecia, Sacral dimple, Short neck, Scoliosis, Hypertrichosis OMIM:619762
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity, Hypothermia ORPHA:26793
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Kyphoscoliosis OMIM:612079
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis ORPHA:2598
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Typical Nemaline Myopathy
Waddling gait, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Respiratory insufficiency, G... ORPHA:171436
Sialidosis Type 2
Dyspnea, Ataxia, Kyphosis ORPHA:87876
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Parkinson Disease, Late-Onset
Lewy bodies, Neuronal loss in central nervous system, Substantia nigra gliosis, Short stepped shu... OMIM:168600
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia ORPHA:1867
Parkinson Disease 17
Akinesia OMIM:614203
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Hypothermia ORPHA:159
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Dystrophic toenail, Nail dystrophy, Sp... ORPHA:3253
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair ORPHA:1883
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Gait disturbance, Neurodegene... OMIM:614298
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Hypoplastic toenail... ORPHA:544488
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis ORPHA:75840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Periventricular heterotopia, Kyphosis, Platyspondyly, Long eyel... OMIM:618476
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Ataxia, Dyspnea, Nail pits, Hepatic necrosis, Premature graying of hair, I... OMIM:127550
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Cerebellar atrophy, Akinesia, Truncal ataxia OMIM:618249
Monosomy 18P
Alopecia, Low posterior hairline, Kyphoscoliosis, Short neck ORPHA:1598
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scol... OMIM:314580
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Simplified gyral pattern, Gait ataxia, Polymicrogyria, Cerebellar vermis atrophy OMIM:300354
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia ORPHA:411602
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Agenesis of corpus callosum, Generali... ORPHA:238750
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Akinesia OMIM:253290
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Ataxia, Nail dystrophy OMIM:616353
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Temperature instability, Intermittent hypothermia, Irritability OMIM:608643
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Congenital Myopathy 9A
Akinesia OMIM:618822
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Scoliosis, Gait disturbance, Abnormal form of the vertebral bodies ORPHA:93160
Spondylometaphyseal Dysplasia, Kozlowski Type
Waddling gait, Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypo... ORPHA:93314
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Short neck, Respiratory insufficiency due to muscle weakness, Hyperlord... ORPHA:98863
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Recurrent pneumonia, Spinal canal stenosis, Bronchiectasis, Recurrent sinusitis OMIM:618282
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnormal toenail morph... ORPHA:1005
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... ORPHA:464
Primary Progressive Freezing Gait
Shuffling gait, Gait imbalance, Difficulty walking, Lewy bodies, Cerebral cortical atrophy ORPHA:75567
Leigh Syndrome
Cerebellar atrophy, Alopecia, Ataxia, Abnormal brainstem MRI signal intensity, Focal T2 hyperinte... ORPHA:506
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitochondrial compl... ORPHA:17
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Gait disturbance, Cerebral atrophy OMIM:600116
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Kyphoscoliosis, Kyphosis, Scoliosis OMIM:618484
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy... OMIM:183900
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Interstitial emphy... OMIM:619708
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Bresek Syndrome
Alopecia, Hemivertebrae, Scoliosis ORPHA:85284
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Neuronal loss in central nervous system, Ataxia, Gait ataxia OMIM:257220
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Spinal canal stenosis, Ce... ORPHA:1320
Incontinentia Pigmenti
Ridged nail, Alopecia, Kyphoscoliosis, Supernumerary nipple, Hemivertebrae, Nail pits, Fine hair,... OMIM:308300
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Inferior cerebel... OMIM:620327
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Shuffling gait, Loss of ambulation, Lewy bodies, Global brain atrophy OMIM:168601
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis OMIM:615834
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Congenital Myopathy 12
Respiratory insufficiency due to muscle weakness, Akinesia OMIM:612540
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphos... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphos... ORPHA:98853
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... ORPHA:488632
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Dementia, Mental deterioration, Memory impairment, Failure to thrive, Delirium ORPHA:79282
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Chanarin-Dorfman Syndrome
Alopecia, Ataxia OMIM:275630
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypothermia OMIM:251880
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Gomez-Lopez-Hernandez Syndrome
Alopecia, Ataxia OMIM:601853
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis ORPHA:536516
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Respiratory insufficien... ORPHA:2655
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia, Weight loss ORPHA:20
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Progressive Supranuclear Palsy
Depression, Abnormal synaptic transmission, Dementia, Cognitive impairment, Memory impairment ORPHA:683
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Arthrogryposis, Distal, Type 5
Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory defect, Scolios... OMIM:108145
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Cerebral atrophy, Alopecia, Fragile nails OMIM:242150
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Ataxia, Fine hair, Premature graying of hair, Nail dysplasia, Decreased DLCO OMIM:613990
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Arthrogryposis Multiplex Congenita 5
Neonatal respiratory distress, Akinesia, Short neck, Kyphoscoliosis, Restrictive ventilatory defe... OMIM:618947
Mcdonough Syndrome
Kyphosis, Synophrys, Scoliosis ORPHA:2471
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Kyphosis, Scoliosis ORPHA:352490
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbanc... ORPHA:98855
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Hypoplasia of the odonto... OMIM:253220
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Recurrent sinusitis OMIM:615559
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Hypothe... ORPHA:293987
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Pachyonychia Congenita
Respiratory distress, Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nai... ORPHA:2309
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Kyphosis, Hyperlordosis ORPHA:3085
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Alopecia, Apnea, Long eyelashes, Fair ... ORPHA:79330
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Inability to walk, Kyphosis, Brain atrophy, Scoliosis OMIM:301041
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Ataxia, Neurofibrillary tangles, Respiratory insufficiency, Respir... OMIM:607625
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Thanatophoric Dysplasia Type 2
Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration, Respiratory insufficiency,... ORPHA:93274
Adult-Onset Autosomal Dominant Leukodystrophy
Cognitive impairment, Temperature instability, Dementia, Hypothermia ORPHA:99027
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hai... OMIM:158310
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair, Aplasia/Hypop... ORPHA:3082
Gm1 Gangliosidosis
Ataxia, Hyperlordosis, Kyphosis, Patent ductus arteriosus, Unsteady gait, Abnormal form of the ve... ORPHA:354
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Agenesis of corpus callosum, Fine hair ORPHA:228390
Keutel Syndrome
Pulmonary arterial hypertension, Alopecia, Recurrent sinusitis ORPHA:85202
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration OMIM:223360
Ethylene Glycol Poisoning
Confusion, Hypothermia, Euphoria ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Schaaf-Yang Syndrome
Inability to walk, Thick eyebrow, Kyphosis, Scoliosis OMIM:615547
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Alstrom Syndrome
Alopecia, Kyphosis, Asthma, Recurrent pneumonia, Scoliosis OMIM:203800
Difference Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta ORPHA:2983
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Neutral Lipid Storage Disease With Ichthyosis
Central nervous system degeneration, Alopecia, Ataxia, Difficulty walking ORPHA:98907
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cerebral cortical atrophy ORPHA:166035
Sialidosis Type 1
Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis ORPHA:812
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Broad-based gait, Thoracic scoliosis, Low posterior hairline ORPHA:2959
Crisponi Syndrome
Kyphosis, Scoliosis, Respiratory insufficiency ORPHA:1545
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Congenital Myopathy 22A, Classic
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Respiratory insufficienc... OMIM:620351
Macs Syndrome
Alopecia, Sparse eyebrow, Bronchiectasis, Scoliosis, Sparse hair OMIM:613075
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy OMIM:117300
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Asthma, Recurrent pneumonia, Hypertrichosis, Neurodegeneration, Tracheobron... OMIM:309900
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ... ORPHA:35173
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Respiratory insufficiency ORPHA:2771
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Diastrophic Dysplasia
Kyphosis, Respiratory insufficiency, Abnormal form of the vertebral bodies, Scoliosis, Hypoplasti... ORPHA:628
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Desbuquois Dysplasia 1
Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly,... OMIM:251450
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Respiratory insufficiency, Short neck ORPHA:3191
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Kyphosis, Synophrys, Prominent protruding ... OMIM:300966
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cerebral degeneration, Beaking of ... OMIM:230500
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Kyphosis, Global brain atrophy, Short neck OMIM:608776
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia OMIM:608013
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis OMIM:617143
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Kyphosis, Scoliosis OMIM:609541
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, Long eyelashes, Scoliosis, ... OMIM:617190
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Dysmetria, Dysdiadochokinesis, Pontocerebe... ORPHA:171629
Trisomy 20P
Thick hair, Highly arched eyebrow, Short neck, Kyphosis, Low anterior hairline, Abnormal form of ... ORPHA:261318
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Failure to thrive, Hypothermia ORPHA:255210
X-Linked Agammaglobulinemia
Alopecia, Sinusitis, Recurrent pneumonia ORPHA:47
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ... ORPHA:2232
Dpagt1-Cdg
Ataxia, Akinesia, Inability to walk, Scoliosis, Cerebral cortical atrophy, Global brain atrophy, ... ORPHA:86309
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Frontotemporal dementia, Dysphagia, Depression ORPHA:199351
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis ORPHA:3130
Neuroleptic Malignant Syndrome
Fever, Delirium, Hypothermia ORPHA:94093
Vici Syndrome
Hypopigmentation of hair, Albinism, Gray matter heterotopia, Abnormal posturing, Agenesis of corp... OMIM:242840
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Kyphosis, Unsteady gait, ... OMIM:615512
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory insuffic... OMIM:254090
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Choreoathetosis, Gait disturbance, Neurodegeneration, Cerebral degeneration, Gl... OMIM:234200
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Cerebral cortical atrophy, Ridged... ORPHA:37
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Hemochromatosis, Type 1
Alopecia, Pleural effusion OMIM:235200
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Kyphosis, Synophrys, Patent ductus arteriosus, Low anterior hairline, Frontal upsw... OMIM:617061
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis, Asthma, Recurrent pneumonia, Recurrent sinusitis OMIM:615577
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Agenesis of corpus callosum OMIM:615433
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Rest... OMIM:253010
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Apnea, Synophrys, Thoracic kyphosis, Aspiration pneumonia, Spar... OMIM:602535
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Ataxia ORPHA:453533
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Cerebral atrophy, Scoliosis, Sparse hair, Pulmonary arterial hyper... OMIM:616449
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Pulmonary arterial hypert... ORPHA:974
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Dyspnea, Nail dystrophy, Scoliosis... OMIM:614008
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Sparse eyebrow, Inability to walk, Kyphosis, Recurrent pneumonia, Cerebral atr... ORPHA:464738
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Ataxia, Hyperventilation ORPHA:79241
Oculocerebrocutaneous Syndrome
Alopecia, Polymicrogyria, Abnormal fingernail morphology ORPHA:1647
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Micro Syndrome
Kyphosis, Generalized hirsutism, Lissencephaly, Scoliosis, Pachygyria, Cerebral cortical atrophy ORPHA:2510
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Abnormal form of the vertebral bodies ORPHA:2067
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Aspiration, Alopecia, Sparse eyelashes OMIM:610768
Giant Cell Arteritis
Alopecia, Ataxia, Epistaxis, Cough ORPHA:397
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Fumarase Deficiency
Mitochondrial swelling, Decreased fumarate hydratase activity OMIM:606812
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Omenn Syndrome
Alopecia, Pneumonia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,... ORPHA:15
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... ORPHA:236
Slc35A2-Cdg
Failure to thrive in infancy, Abnormal midbrain morphology, Precocious puberty, Elevated circulat... ORPHA:356961
Coffin-Lowry Syndrome
Kyphosis, Abnormality of neuronal migration, Abnormal form of the vertebral bodies, Hyperconvex f... ORPHA:192
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... ORPHA:582
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cockayne Syndrome Type 2
Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis ORPHA:90322
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Kyphoscoliosis, Absent eyelashes, ... OMIM:268400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes OMIM:137940
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Rett Syndrome, Congenital Variant
Kyphosis, Simplified gyral pattern, Athetosis, Scoliosis, Aspiration, Pachygyria OMIM:613454
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Respiratory insufficien... ORPHA:1860
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Tremor, Hyp... OMIM:615574
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Cerebellar atrophy, Cerebral cortical atrophy OMIM:617763
Sézary Syndrome
Alopecia, Nail dystrophy ORPHA:3162
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis OMIM:609128
Holocarboxylase Synthetase Deficiency
Alopecia, Tachypnea, Hyperventilation OMIM:253270
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Kyphoscoliosis OMIM:163200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Abnormal cortical gyration, Kyphosis, Respiratory insufficiency, Cerebral cortical atrophy... OMIM:617527
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Low posterior h... ORPHA:2916
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Supernumerary nipple, Scoliosis ORPHA:64755
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Scoliosis, Nail dysplasia, Spars... OMIM:230740
Parkinsonian-Pyramidal Syndrome
Lewy bodies, Substantia nigra gliosis, Shuffling gait ORPHA:171695
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Pediatric Systemic Lupus Erythematosus
Alopecia, Dyspnea, Pleural effusion ORPHA:93552
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Plaa-Associated Neurodevelopmental Disorder
Apnea, Abnormal cortical gyration, Kyphosis, Respiratory insufficiency, Hirsutism, Cerebellar cor... ORPHA:521426
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Waisman Syndrome
Lewy bodies, Shuffling gait OMIM:311510
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Fountain Syndrome
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... ORPHA:3219
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Generalized hirsutism, Scoliosis ORPHA:3121
Emanuel Syndrome
Sacral dimple, Kyphosis, Patent ductus arteriosus, Cerebral atrophy, Scoliosis, Recurrent sinusitis OMIM:609029
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Scoliosis ORPHA:85293
Mgat2-Cdg
Respiratory distress, Kyphosis, Patent ductus arteriosus, Long eyelashes, Hypoplastic nipples, Sc... ORPHA:79329
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Kyphosis, Abnormal hair m... ORPHA:2273
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Respiratory insufficienc... ORPHA:2108
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcifications, ... OMIM:302960
Orofaciodigital Syndrome I
Alopecia, Dry hair, Abnormal cortical gyration, Cerebral atrophy, Gray matter heterotopia, Hypoth... OMIM:311200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Unilateral Polymicrogyria
Abnormal posturing, Perisylvian polymicrogyria, Apnea, Epistaxis ORPHA:268943
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... OMIM:106260
Mixed Connective Tissue Disease
Dyspnea, Alopecia, Pulmonary arterial hypertension ORPHA:809
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... ORPHA:1775
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Pachygyria, Polymicrogyria OMIM:603387
Marden-Walker Syndrome
Short neck, Kyphosis, Hypoplasia of the brainstem, Scoliosis, Agenesis of corpus callosum OMIM:248700
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Respiratory failure, Absent toenail, Absent fingernail, Congeni... ORPHA:158687
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Difficulty walking OMIM:277440
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Decreased pyruvate ... OMIM:601992
Noonan Syndrome 14
Curly hair, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Lateral ventricle dilat... OMIM:619745
Caribbean Parkinsonism
Progressive gait ataxia, Lewy bodies, Cerebral cortical atrophy ORPHA:97355
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Kyphosis, Hirsutism, Scoliosis OMIM:607015
15Q24 Microdeletion Syndrome
Kyphosis, Broad eyebrow, High anterior hairline, Scoliosis ORPHA:94065
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Periventricular heterotopia, Kyphosis, Colpocephaly... ORPHA:261250
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Patent ductus arteriosus, Scoliosis ORPHA:3378
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis ORPHA:536532
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia,... OMIM:619482
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal eyelash morphology, Cerebral atrophy, Subcortical cerebral atrophy, Pulmonary ... ORPHA:2396
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Scoliosis, Generalized hirsutism ORPHA:254346
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Abnormality of neuronal migration, Scoliosis, Hypoplastic fi... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation, Kyphosis, Tip-toe gait, Scoliosis, Hypertrichosis OMIM:618050
Celiac Disease, Susceptibility To, 1
Alopecia, Ataxia OMIM:212750
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Respiratory failure, Platysp... OMIM:616482
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis OMIM:607060
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ... OMIM:607014
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Biconcave vertebral bodies, Kyphosis, Scoliosis OMIM:259420
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nail dystrophy, Alopecia universalis OMIM:240300
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the brainstem OMIM:253800
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Apnea, Hyperlordosis, Short neck, Kyp... ORPHA:800
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Pycnodysostosis
Ridged nail, Hyperlordosis, Kyphosis, Stridor, Spondylolysis, Scoliosis, Nail dysplasia, Abnormal... ORPHA:763
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Patent ductus arteriosus, Abnormal brainstem morphology, Abnormality of neuronal migrat... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Gait disturbance, Long eyelashes, Scol... ORPHA:261349
Multiple Pterygium-Malignant Hyperthermia Syndrome
Dyspnea, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis, Ridged fingernail, O... ORPHA:2215
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Precocious puberty, Tremor, Dystonia, Laryngeal... ORPHA:845
Harrod Syndrome
Kyphosis, Cerebral cortical atrophy, Scoliosis ORPHA:2115
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Inability to walk, Hypoplasi... ORPHA:508533
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
H Syndrome
Abnormal eyebrow morphology, Alopecia, Bronchiectasis, Chronic rhinitis, Hypertrichosis ORPHA:168569
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Juvenile Dermatomyositis
Dyspnea, Restrictive ventilatory defect, Alopecia, Cough ORPHA:93672
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick eyebrow ORPHA:2616
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Partial agenesis of the corpus callosum, Scoliosis ORPHA:420794
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia, Scoliosis, Cerebral cor... OMIM:617011
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Nail dystrophy, Recurrent sinusi... ORPHA:293978
Menkes Disease
Hypothermia ORPHA:565
Autosomal Recessive Robinow Syndrome
Sacral dimple, Alopecia, Short neck, Kyphosis, Vertebral segmentation defect, Long eyelashes, Fin... ORPHA:1507
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol... ORPHA:363958
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Abnormality of hair texture, Kyphosis, Patent ductus arteriosus,... OMIM:610443
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Agenesis of corpus callosum, Scoliosis ORPHA:261144
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:617281
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia OMIM:226600
Focal Dermal Hypoplasia
Patent ductus arteriosus, Alopecia, Abnormality of the nail, Scoliosis ORPHA:2092
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Dyspnea, Paronychia, Pneumothorax, Renal tubular epith... ORPHA:79404
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Alopecia, Respiratory insufficiency due to mu... ORPHA:273
Lafora Disease
Ataxia, Inability to walk, Lafora bodies, Gait disturbance, Brain atrophy, Recurrent aspiration p... ORPHA:501
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Patent ductus arteriosus, Coarse hair, Scoliosis, Biconca... OMIM:130720
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline ORPHA:261222
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Asthma, Gait disturbance, Scoliosis ORPHA:500055
Hereditary Sensory And Autonomic Neuropathy Type 4
Short attention span, Hypothermia, Abnormal emotion, Unexplained fevers, Recurrent fever ORPHA:642
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Abnormality of hair texture, Kyphosis, Vertebral segm... ORPHA:96169
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies OMIM:616640
Marburg Hemorrhagic Fever
Fever, Confusion, Hypothermia ORPHA:99826
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Weaver Syndrome
Deep-set nails, Thin nail, Kyphosis, Patent ductus arteriosus, Fine hair, Lateral ventricle dilat... OMIM:277590
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low posterior hairlin... ORPHA:2789
2Q31.1 Microdeletion Syndrome
Short neck, Hypoplastic toenails, Kyphosis, Synophrys, Abnormal hair morphology, Low anterior hai... ORPHA:251014
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Ataxia, Coarse hair, Sparse hair, Agenesis of corpus callosum ORPHA:2750
Encephalocraniocutaneous Lipomatosis
Alopecia, Agenesis of corpus callosum OMIM:613001
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormal pattern of respiration, Abnormality of the nail ORPHA:428
Autosomal Dominant Robinow Syndrome
Sacral dimple, Alopecia, Curly eyelashes, Short neck, Hemivertebrae, Abnormal form of the vertebr... ORPHA:3107
Sarcoidosis
Fever, Hyperthyroidism, Diabetes insipidus, Hypothermia, Weight loss, Abnormality of the adrenal ... ORPHA:797
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Patent ductus arteriosus, Hypoplasia of the brainstem, Gait disturbance, Cerebral corti... ORPHA:464306
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Alopecia, Pneumonia, Interstitial pneumonitis, Nail dystrophy ORPHA:37042
Colchicine Poisoning
Respiratory distress, Alopecia, Cardiorespiratory arrest ORPHA:31824
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Short neck, Absent eyelashes, Smal... OMIM:263650
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T... ORPHA:140
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vert... OMIM:265000
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Ataxia, Sparse eyelashes, Pterygium of nails, Premature grayin... OMIM:305000
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Dry hair, Kyphosis, Inability to walk, White ... ORPHA:576
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Ataxia, Olivopontocerebellar hypoplasia, Kyphosis, Dysmetria OMIM:212065
Systemic Sclerosis
Dyspnea, Alopecia, Pulmonary arterial hypertension, Nail bed telangiectasia ORPHA:90291
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Short neck, Absent eyel... OMIM:264090
Occipital Horn Syndrome
Hypothermia ORPHA:198
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Synophrys, Scoliosis, Gait ataxia ORPHA:476126
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Alopecia, Short neck, Dys... ORPHA:2636
Early-Onset Lafora Body Disease
Ataxia, Lafora bodies ORPHA:324290
Mandibuloacral Dysplasia With Type A Lipodystrophy
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia ORPHA:90153
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Vertebral compression fracture, Hypertrichosis OMIM:263700
Omenn Syndrome
Alopecia, Pneumonia OMIM:603554
Atelis Syndrome 2
Sacral dimple, Dyspnea, Patent ductus arteriosus, Kyphosis, Dysmetria OMIM:620185
Holt-Oram Syndrome
Kyphosis, Patent ductus arteriosus, Scoliosis ORPHA:392
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Xeroderma Pigmentosum
Alopecia, Ataxia, Cerebral cortical atrophy ORPHA:910
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail, Scoliosis, Vertebral hypoplasia OMIM:308050
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Hirsutism, Biconcave vertebral bodies OMIM:219090
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Alopecia universalis OMIM:606367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Steppage gait, Sparse body hair ORPHA:548
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Difficulty walking, ... ORPHA:457359
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Kyphosis, Supernumerary nipple, Scoliosis OMIM:619951
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema, Alopecia uni... ORPHA:363618
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis ORPHA:364028
Cohen Syndrome
Thick hair, Abnormal eyelash morphology, Kyphosis, Low anterior hairline, Long eyelashes, Scolios... ORPHA:193
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior... ORPHA:438213
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism ORPHA:189427
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia... OMIM:308205
Mucopolysaccharidosis Type 6
Kyphosis, Sinusitis, Ovoid vertebral bodies, Short neck ORPHA:583
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Kyphosis, Repeated pneumothoraces, Scoliosis OMIM:617602
Dementia, Lewy Body
Lewy bodies OMIM:127750
Pelger-Huet Anomaly
Kyphosis OMIM:169400
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis,... OMIM:143095
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hirsutism ORPHA:90795
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Duplication Of The Pituitary Gland
Abnormal pituitary gland morphology, Abnormal midbrain morphology, Decreased body weight ORPHA:314621
Trichotillomania
Alopecia OMIM:613229
Linear Nevus Sebaceus Syndrome
Alopecia, Vertebral segmentation defect ORPHA:2612
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis OMIM:301040
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin... ORPHA:79474
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Onychogryposis OMIM:248370
Woodhouse-Sakati Syndrome
Choreoathetosis, Alopecia, Sparse hair, Fine hair OMIM:241080
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Poster... ORPHA:3042
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysplasia, Sparse hair, Abno... ORPHA:2909
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Highly arched eyebrow, Kyphosis, Abnormal form of the vertebral bodies, Lo... ORPHA:280
Chronic Graft Versus Host Disease
Alopecia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Onycholysis, Nail dystrophy, Cough, Pl... ORPHA:99921
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys... ORPHA:955
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail, Pulmonary arterial hypertension, Pachygyria, Polymicr... OMIM:100300
Cdags Syndrome
Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair OMIM:603116
Cockayne Syndrome Type 3
Dry hair, Kyphosis, Unsteady gait, Premature graying of hair, Scoliosis, Difficulty walking, Brai... ORPHA:90324
Fucosidosis
Kyphosis, Abnormality of the nail, Anterior beaking of lumbar vertebrae ORPHA:349
Insulin-Resistance Syndrome Type B
Alopecia, Pneumonia, Hirsutism ORPHA:2298
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Nail dystrophy, Difficulty walking, Sparse hair, Alopecia universalis ORPHA:158668
Sandhoff Disease
Exaggerated startle response OMIM:268800
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Patent ductus arteriosus, Chylothorax, Distichiasis OMIM:153400
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Abnormal lateral ventricle morphology, Pneumonia ORPHA:1855
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Low anterior hairline, Scoliosis OMIM:618223
Relapsing Polychondritis
Dyspnea, Alopecia, Abnormal pattern of respiration, Cough ORPHA:728
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Failure to thrive, Abnormal midbrain morphology ORPHA:444072
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology ORPHA:217260
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Distal Triplication 15Q
Kyphosis, Patent ductus arteriosus, Scoliosis ORPHA:314588
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
African Trypanosomiasis
Alopecia, Akinesia, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Prader-Willi Syndrome
Hypoventilation, Hypopigmentation of hair, Kyphosis, Frontal upsweep of hair, Scoliosis OMIM:176270
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79396
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis OMIM:619005
Cockayne Syndrome A
Cerebellar atrophy, Dry hair, Ataxia, Kyphosis, Cerebral atrophy, Gait disturbance, Sparse hair OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Broad eyebrow, Broad-based gait, Ataxia, Head titubation, Kyphosis, Synophrys, Abnorma... OMIM:619475
Myoclonic Epilepsy Of Lafora
Gait disturbance, Lafora bodies OMIM:254780
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Sparse eyebrow, Inability to walk, Synophrys, Unsteady gait, Kyphosis ORPHA:3063
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Parkinson Disease 21
Lewy bodies OMIM:616361
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail OMIM:258850
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Sacral dimple, Ataxia, Kyphosis, Hypoplasia of the brainstem, Gait disturbance,... ORPHA:268261
Coffin-Siris Syndrome 1
Sparse scalp hair, Sacral dimple, Dry hair, Kyphosis, Hypoplastic fifth fingernail, Patent ductus... OMIM:135900
Cockayne Syndrome
Cerebellar atrophy, Dry hair, Ataxia, Inability to walk, Kyphosis, Cerebral atrophy, Fine hair, P... ORPHA:191
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Long eyelashes, Scoliosis OMIM:616894
Cockayne Syndrome B
Dry hair, Ataxia, Abnormal hair morphology, Kyphosis, Cerebral atrophy, Sparse hair OMIM:133540
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Synophrys, Scoliosis OMIM:619557
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Sparse eyebrow, Kyphosis, Trichiasis, Thin eyebrow OMIM:609944
Gaucher Disease Type 1
Pulmonary arterial hypertension, Vertebral compression fracture, Kyphosis ORPHA:77259
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221008
Osteogenesis Imperfecta
Neonatal respiratory distress, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fractur... ORPHA:666
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Abnormal pons morphology, Abnormal substantia nigra... ORPHA:79139
Classic Homocystinuria
Kyphosis, Sparse scalp hair, Scoliosis, Pulmonary embolism ORPHA:394
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Viss Syndrome
Sparse scalp hair, Alopecia, Dyspnea, Asthma, Pneumothorax, Kyphosis, Hirsutism, Patent ductus ar... OMIM:619472
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Loss of eyelashes, Upper airway obstruction, Patchy alopecia, S... ORPHA:740
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of ... ORPHA:221016
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... ORPHA:99413
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... ORPHA:99226
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Low posteri... ORPHA:881
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Hypopigmentation of hair, Scoliosis ORPHA:398069
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Kyphosis, Patent ductus arteriosus, Spinal canal stenosis, Gait dist... ORPHA:1606
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Dysplastic corpus callosum, Scoliosis OMIM:300967
Kikuchi-Fujimoto Disease
Alopecia, Pleural effusion, Ataxia ORPHA:50918
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Kyphosis, Scoliosis, High anterior hairline, Agenesis of corpus... OMIM:619194
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response OMIM:618367
Zttk Syndrome
Curly hair, Sparse eyebrow, Kyphosis, Patent ductus arteriosus, Dysplastic corpus callosum, Hemiv... OMIM:617140
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Ring Chromosome 13 Syndrome
Alopecia, Agenesis of corpus callosum, Short neck ORPHA:96176
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis OMIM:162300
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Lateral ventricle dilatation, Patchy alopecia... OMIM:181270
Woodhouse-Sakati Syndrome
Choreoathetosis, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Camurati-Engelmann Disease
Waddling gait, Ataxia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis ORPHA:1328
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo... OMIM:119600
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Shprintzen Omphalocele Syndrome
Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis OMIM:182210
Autoimmune Polyendocrinopathy Type 4
Alopecia ORPHA:227990
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cerebellar cortical atrophy OMIM:619321
Autoimmune Polyendocrinopathy Type 3
Alopecia ORPHA:227982
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Aplasia/Hypoplasia of the nails OMIM:619123
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Pallister-Killian Syndrome
Sparse scalp hair, Sacral dimple, Alopecia, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse ... OMIM:601803
Primrose Syndrome
Sparse scalp hair, Ataxia, Absent facial hair, Kyphosis, Synophrys, Irregular vertebral endplates... OMIM:259050
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Short neck, Abnormal eyelash morphology, Kyphosis, Patent ductus arteri... ORPHA:818
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Kyphosis, Absent eyebrow, Thin fingernail ORPHA:85199
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Kyphosis, Respiratory insufficiency, Fine hair, Platyspondyly, Scoliosis ORPHA:534
Marden-Walker Syndrome
Kyphosis, Agenesis of corpus callosum, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis, Neonatal respiratory distress ORPHA:1393
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Hyperconvex fingernails, Scoliosis, Agenesis of corpus callosum, Hypoplastic fingernail ORPHA:2658
Ramon Syndrome
Kyphosis, Scoliosis, Hypertrichosis OMIM:266270
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck ORPHA:77301
Williams Syndrome
Sacral dimple, Ataxia, Abnormal fingernail morphology, Hyperlordosis, Hypoplastic toenails, Kypho... ORPHA:904
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Coarse hair, Pili torti OMIM:304150
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Low posterior hairline, Vertebral segmentation defect, Scoli... ORPHA:2911
Aspartylglucosaminuria
Kyphosis, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies,... OMIM:208400
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Hypoplastic nipples, Scoliosis,... OMIM:305600
Neurofibromatosis Type 1
Abnormal hair quantity, Kyphosis, Ataxia, Scoliosis ORPHA:636
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Highly arched eyebrow, Kyphosis, Abnormal form of the vertebral ... OMIM:194190
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Coffin-Lowry Syndrome
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... OMIM:303600
Marfan Syndrome
Spontaneous pneumothorax, Kyphosis, Scoliosis, Emphysema, Spondylolisthesis ORPHA:558
Cowden Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:201
Acromegaly
Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Abnormal toenail morp... ORPHA:963
Somatomammotropinoma
Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal stenosis, Abnormal toenail morp... ORPHA:314769
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Proteus Syndrome
Pulmonary embolism, Kyphosis, Abnormal form of the vertebral bodies, Generalized hirsutism, Gray ... ORPHA:744
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Pneumothorax, Respiratory ins... ORPHA:286
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Mend Syndrome
Kyphosis, Sacral dimple ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Wrinkly Skin Syndrome
Short nail, Kyphosis, Scoliosis, Sparse hair, Fragile nails OMIM:278250
Branchiooculofacial Syndrome
Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Low posterior hairline, Premature gray... OMIM:113620
Sotos Syndrome
Sacrococcygeal teratoma, Kyphosis, Sparse anterior scalp hair, Patent ductus arteriosus, Cerebral... ORPHA:821
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Sparse eyelashes, Anterior concavity of thoracic vertebrae, Spa... OMIM:216340
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis, Pul... ORPHA:97685
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Ataxia, Frontal balding, Kyphosis, Chronic pulmonary ob... ORPHA:64
Lung Cancer
OMIM:211980
Ovarian Cancer
OMIM:167000

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 Prkn

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 Prkn.

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

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