Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ribosomal protein S9
Synonyms:
3010033P07Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rps9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rps9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Ectopia lentis, Abnormal fingernail morphology, Fingernail dysplasia... ORPHA:2325
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Alopecia, Failure to thrive, Anemia, Spinal rigidity ORPHA:337
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Gait disturbance, Joint contracture, Scoliosis, Kyphosis OMIM:611225
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Kyphosis, Tip-toe gait, Gait disturbance, Hyperlordosis, Scoliosis, Increased adipose t... OMIM:617404
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ataxia, Abnormality of the urinary system, Ureteral stenosis, Oc... ORPHA:2719
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Renal insufficiency, Throm... OMIM:619644
Rudiger Syndrome
Ureterovesical stenosis, Hypoplastic fingernail, Inguinal hernia, Micropenis, Flexion contracture OMIM:268650
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Flynn-Aird Syndrome
Cataract, Alopecia, Alopecia of scalp, Kyphoscoliosis, Ataxia OMIM:136300
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Long eyelashes, Long eyebrows, Hypoplasia of penis, Sparse hair,... OMIM:275400
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Small for gestational age, Hirsutism ORPHA:85288
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation ORPHA:499
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Long eyelashes, Ataxia, Micropenis, Sparse hair, Small for gestational age ORPHA:3363
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Chorea, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis, Inguinal hernia, Decreased body weight, Small for gestational age, Waddling gait OMIM:618392
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal... OMIM:615398
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret... OMIM:143400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopeni... OMIM:612541
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenom... ORPHA:2930
Parastremmatic Dwarfism
Flexion contracture, Scoliosis, Kyphosis, Short neck OMIM:168400
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Joint contracture, Scoliosis OMIM:615704
Candidiasis, Familial, 1
Alopecia OMIM:114580
Castleman Disease
Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Thrombocytopenia, Anemia, Decr... ORPHA:160
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia OMIM:612840
L-Ferritin Deficiency
Alopecia OMIM:615604
Zimmermann-Laband Syndrome 3
Facial hypertrichosis, Small nail, Hypertrichosis, Long eyelashes, Thick eyebrow, Absent toenail,... OMIM:618658
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Otopalatodigital Syndrome Type 2
Cataract, Hypospadias, Failure to thrive, Camptodactyly of finger, Ureteral obstruction, Hydronep... ORPHA:90652
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Low posterior hairline, Gait disturbance, Truncal obesity, Thick hair, Scoliosis, ... ORPHA:2429
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Obesity, Lumbar hyperlordosis, Ataxia, Scoliosis, Kyphosis, ... OMIM:616756
Hypomelanosis Of Ito
Cataract, Alopecia, Scoliosis, Iris coloboma, Kyphosis OMIM:300337
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Kyphoscoliosis, Severe failure to thrive, Developmental cataract, Flexion contracture, ... OMIM:215100
Flynn-Aird Syndrome
Cataract, Alopecia, Impaired pain sensation, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Corneal opacity... ORPHA:317
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen, Abnormality of the ureter, Short neck, Hypospadias, Sacral dimple ORPHA:2487
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Winchester Syndrome
Corneal opacity, Kyphosis, Hirsutism OMIM:277950
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Impaired vibration sensation in the lower li... OMIM:159550
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Keratoconjunctivitis, Lethargy, Weight loss, Thrombocytopenia, Ataxia ORPHA:79242
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Ataxia ORPHA:796
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, Scoliosis, Sp... ORPHA:2850
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... ORPHA:2890
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Fingernail dy... ORPHA:2251
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Baralle-Macken Syndrome
Cataract, Inability to walk, Obesity, Hirsutism, Urinary incontinence, Kyphosis OMIM:619255
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Developmental cataract OMIM:212360
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Alopecia, Band keratopathy, Broad-based gait, Microcytic anemia, Paresthesia, Multiple ... ORPHA:2959
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Knee flexion contracture, Hip contracture, Steppage gait, Hyperlo... OMIM:615290
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Cataract, Microcornea, Chorea, Paresthesia, Dysmetria, Abnormality of the cervical spine,... ORPHA:48431
Frontometaphyseal Dysplasia
Joint contracture of the hand, Keloids, Abnormal cornea morphology, Interphalangeal joint contrac... ORPHA:1826
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Enamel h... ORPHA:79402
Alpha-Heavy Chain Disease
Anemia, Alopecia, Splenomegaly ORPHA:100025
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Scoliosis, Kyphosis, Distal sensory impairment OMIM:617087
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Nail dystrophy, Increased connective tissue, Nail dysplasia, Punctate keratitis, Scarr... OMIM:226670
Pili Torti
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... ORPHA:2889
Teebi-Shaltout Syndrome
Highly arched eyebrow, Caudal appendage, Ureteral stenosis, Horseshoe kidney, Low anterior hairli... OMIM:272950
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Extramedullary hematopoiesis, Dark urine, Renal cyst, Steatorrhea ORPHA:79303
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Alopecia of scalp, Vertebral segmentation defect, Low posterior hairli... ORPHA:2617
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Distichiasis, Scoliosis, Kyphosis ORPHA:2598
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebro... ORPHA:202
Sialidosis Type 2
Ataxia, Nephropathy, Umbilical hernia, Splenomegaly, Inguinal hernia, Corneal opacity, Flexion co... ORPHA:87876
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Leukocytosis, Autoimmune hemolytic anemia, Splen... OMIM:620565
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair ORPHA:2574
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Flexion contracture, Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis OMIM:203550
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Gait disturbance, Scoliosis, Kyphosis, Synophrys ORPHA:505652
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Hypertrichosis, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys ORPHA:85317
Omenn Syndrome
Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinoph... ORPHA:39041
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... ORPHA:169154
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... ORPHA:2985
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Hernia, Abnormal hair pattern, ... ORPHA:3051
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positi... OMIM:304790
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Occipital Horn Syndrome
Platyspondyly, Coarse hair, Ureteral obstruction, Hiatus hernia, Hydronephrosis, Bladder divertic... OMIM:304150
Incontinentia Pigmenti
Supernumerary nipple, Sparse hair, Onychogryposis, Cataract, Alopecia, Breast aplasia, Breast hyp... OMIM:308300
Immunodeficiency 32B
Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocy... OMIM:226990
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Hyperlordosis, Scoliosis, A... OMIM:600175
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Bethlem Myopathy 2
Atrophic scars, Flexion contracture, Scoliosis, Kyphosis OMIM:616471
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613990
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Failure to thrive, Weight loss, Neutropenia, Thrombocytopenia, Anemia, Conj... ORPHA:47
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hirsutism OMIM:300434
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226600
Srd5A3-Cdg
Cataract, Hypertrichosis, Microcytic anemia, Ataxia, Abnormal sacrum morphology, Kyphosis ORPHA:324737
Porphyria Cutanea Tarda
Porphyrinuria, Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Impaired vibratory sensation, Urinary incontinence, Impaired vibration sensation in the... OMIM:614409
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp, Scarring ORPHA:346
Cerebellar-Facial-Dental Syndrome
Cataract, Sparse eyebrow, Foot joint contracture, Failure to thrive, Fine hair, Ureteropelvic jun... ORPHA:444072
Rhizomelic Chondrodysplasia Punctata
Cataract, Alopecia, Sparse body hair, Spina bifida occulta, Scoliosis ORPHA:177
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Melnick-Needles Syndrome
Coarse hair, Failure to thrive, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyph... OMIM:309350
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Camptodactyly, Flexion contracture, Scoliosis, Iris coloboma ORPHA:88630
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Alopecia, Paresthesia, Nail dystrophy, Nail dysplasia, Cachexia, Anemia OMIM:175500
Sialidosis Type 1
Ataxia, Cataract, Aminoaciduria, Abnormal form of the vertebral bodies, Urinary excretion of sial... ORPHA:812
Bresek Syndrome
Alopecia, Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Hemivertebrae, Scol... ORPHA:85284
Renpenning Syndrome
Cataract, Alopecia, Abnormal hairshaft morphology, Hypospadias, Thin eyebrow, Cachexia, Iris colo... ORPHA:3242
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair, Corneal dystrophy ORPHA:1839
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly... OMIM:618986
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Short Syndrome
Alopecia, Megalocornea, Abnormal dental enamel morphology, Hypoplasia of the iris, Abnormal pupil... ORPHA:3163
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Alopecia, Abnormality of the nail ORPHA:2584
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenome... OMIM:259720
Tarp Syndrome
Broad-based gait, Failure to thrive, Extramedullary hematopoiesis, Horseshoe kidney, Thick eyebro... ORPHA:2886
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Alopecia, Reduced subcutaneous adipose tissue, Kyphoscoliosis OMIM:612079
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Primary Pulmonary Hypoplasia
Failure to thrive, Ureteral stenosis ORPHA:2257
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope... OMIM:127550
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys OMIM:300861
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... ORPHA:49041
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Kabuki Syndrome
Highly arched eyebrow, Microcornea, Hypospadias, Abnormal localization of kidney, Sparse lateral ... ORPHA:2322
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady... OMIM:618124
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Short neck, Neutropenia, Nephrotic syndrome, Ovoid vertebral bodies, F... OMIM:242900
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia OMIM:620007
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Failure to thrive, Ureteral stenosis, Hypertrichosis, Hydronephrosis, Short neck, Hy... OMIM:269150
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
H Syndrome
Corneal arcus, Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosp... ORPHA:168569
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Splenomegaly, Ataxia, Anterior beaking of lumbar vertebrae, Opacification of the c... OMIM:230650
Ring Chromosome 8 Syndrome
Low posterior hairline, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulating free fatty acid le... ORPHA:2457
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Hemifacial Atrophy, Progressive
Patchy alopecia, Kyphosis, Poliosis, Ataxia OMIM:141300
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Splenomegaly... OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Renal insufficiency, Renal tubular dysfunction, Lethargy, Thrombocytopenia, Neutropenia, ... ORPHA:289916
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Atypical scarring of skin, Nail dystrophy, Cataract ORPHA:1366
Congenital Syphilis
Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia, ... ORPHA:499009
Zimmermann-Laband Syndrome 2
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Widow'... OMIM:616455
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Macrocytic anemia, Lethargy, Thrombocytopenia, Ataxia, Anemia, C... ORPHA:27
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Failure to thrive, Impaired proprioception ORPHA:319199
Aredyld Syndrome
Sparse body hair, Abnormal dental enamel morphology, Abnormality of the ureter, Splenomegaly, Cac... ORPHA:1133
Jaberi-Elahi Syndrome
Cataract, Sparse eyebrow, Broad-based gait, Failure to thrive, Fine hair, Inability to walk, Gait... OMIM:617988
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Micropenis, Scoliosi... OMIM:301900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of penis, H... ORPHA:1046
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Megalocornea, Extramedullary hematopoiesis, Hirsutism ORPHA:313855
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Gait disturbance, Kyphosis, Hypertrichosis OMIM:614898
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Kury-Isidor Syndrome
Alopecia, Hypertrichosis, Astigmatism, Hydronephrosis, Short neck, Scoliosis, Sacral dimple OMIM:619762
Leigh Syndrome
3-Methylglutaconic aciduria, Neutropenia, Ataxia, Nephrotic syndrome, Choreoathetosis, Cataract, ... ORPHA:506
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormal dental enam... ORPHA:3253
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent nipple, Abnormality of the vertebral spinous processes, Umbilical h... ORPHA:1299
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Difficulty walking, Inability to walk, Short neck, Scoliosis,... OMIM:611890
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Opacification of the corneal st... OMIM:158310
Porphyria, Congenital Erythropoietic
Alopecia, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosis, Corneal scarr... OMIM:263700
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Astigmatism, Low anterior hairline, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimpl... OMIM:615761
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Abnormal form of the vertebral bodies, Nephrolithiasis, Gait disturbance, Abnormal adip... ORPHA:93160
Pediatric Systemic Lupus Erythematosus
Nephritis, Alopecia, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lympho... ORPHA:93552
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Dysmetria, Low back pain, Gait disturbance, Gait apraxia, Ataxia, Urinary incontinence OMIM:600142
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hor... ORPHA:314585
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcut... OMIM:608612
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Platyspondyly, Kyphosis ORPHA:2786
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Omenn Syndrome
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thromb... OMIM:603554
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Failure to thri... ORPHA:536516
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Failure t... OMIM:606367
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Joint contracture of the hand, Broad-based gait, Urinary incontinence, Recurrent urinar... OMIM:609033
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Knee flexion contracture, Hip contracture, Thoracolumbar scoliosis, Abno... OMIM:313420
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Congenital abnormal hair pattern ORPHA:1867
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Short neck, Hyperlordosis, Hypospadi... ORPHA:2522
Centrifugal Lipodystrophy
Alopecia, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack of facial subcut... ORPHA:90156
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervi... ORPHA:98855
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, Kyphosis, Umbilical... ORPHA:352490
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Joint contracture of the hand, Broad-based gait, Duplicated collecting sys... OMIM:280000
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Umbilical hernia, Thick eyebrow, Inguinal hernia, Scoliosis, Art... OMIM:615834
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Incontinentia Pigmenti
Cataract, Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnor... ORPHA:464
Masa Syndrome
Shuffling gait, Kyphosis, Hyperlordosis OMIM:303350
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervi... ORPHA:98863
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Failure to thrive, Abnormality of the nail, Corneal erosion ORPHA:79394
Juvenile Sialidosis Type 2
Ataxia, Cataract, Abnormal form of the vertebral bodies, Umbilical hernia, Hepatosplenomegaly, In... ORPHA:93399
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Kyphosis ORPHA:276630
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropel... ORPHA:2438
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Short neck, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Obesity, Ataxia, Urinary incontinence, Unsteady gait, Scoliosis, Kyphosis, Wa... ORPHA:464282
Adams-Oliver Syndrome
Cataract, Alopecia, Failure to thrive, Hypoplastic fingernail, Leukopenia, Aplastic/hypoplastic t... ORPHA:974
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Gait disturbance, Kyphosis ORPHA:1875
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Hydr... ORPHA:900
Alpha-Mannosidosis
Cataract, Splenomegaly, Inguinal hernia, Short neck, Corneal opacity, Scoliosis, Kyphosis ORPHA:61
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract, Micropenis, Sparse hai... OMIM:610756
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Kyphosis, Failure to thrive OMIM:618237
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Neut... OMIM:169400
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Microcornea, Sparse eyelas... ORPHA:35173
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Cutaneous abscess, Eosinophilia, Sterile abscess, Spinal canal stenosis OMIM:618282
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis OMIM:259730
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythro... OMIM:301310
Marinesco-Sjogren Syndrome
Failure to thrive, Limb ataxia, Gait ataxia, Developmental cataract, Ataxia, Flexion contracture,... OMIM:248800
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Hypertriglyceridemia, Decreased cervi... ORPHA:98853
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Metatropic Dysplasia
Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:2635
Celiac Disease, Susceptibility To, 1
Ataxia, Alopecia, Failure to thrive, Macrocytic anemia, Weight loss, Enamel hypoplasia, Iron defi... OMIM:212750
Dyskeratosis Congenita
Cataract, Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnorm... ORPHA:1775
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Broad-based gait, Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Inguinal he... OMIM:616541
Gabriele-De Vries Syndrome
Sparse eyebrow, Tip-toe gait, Frontal upsweep of hair, Ureteropelvic junction obstruction, Hydron... OMIM:617557
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Difficulty walking, Hypertriglyceridemia, Subcapsular cataract, Ataxia, Abnormal granul... ORPHA:98907
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Keloids, Obesity, Hyperlordosis, Kyphosis ORPHA:3085
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Multiple lipomas, Lipodystrophy, Kyphosis, Distal sensory impairment OMIM:151800
Spinocerebellar Ataxia, Autosomal Recessive 8
Limb ataxia, Gait ataxia, Dysmetria, Scoliosis, Kyphosis OMIM:610743
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia,... OMIM:615387
Johanson-Blizzard Syndrome
Alopecia, Failure to thrive, Hydronephrosis, Abnormal hair pattern, Anemia, Hypoplasia of penis, ... ORPHA:2315
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Frontal upsweep of hair, Astigmatism, Hydronephrosis, Scoliosis, Kyphosis OMIM:619797
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the sple... ORPHA:1834
Dyskeratosis Congenita, X-Linked
Cataract, Alopecia, Premature graying of hair, Pterygium, Pterygium of nails, Ridged nail, Pancyt... OMIM:305000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ataxia, Fl... ORPHA:88628
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Multicystic kidney dysplasia, Hypospadias, Abnormal form of the vertebra... ORPHA:818
Cartilage-Hair Hypoplasia
Sparse eyebrow, Hypoplasia of the odontoid process, Fair hair, Fine hair, Lymphopenia, Lumbar hyp... OMIM:250250
Focal Dermal Hypoplasia
Iris coloboma, Alopecia, Multicystic kidney dysplasia, Ectopia lentis, Camptodactyly of finger, U... ORPHA:2092
Hurler-Scheie Syndrome
Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the... OMIM:607015
Trisomy 20P
Abnormality of the ureter, Low posterior hairline, Hernia, Short neck, Abnormality of the kidney,... ORPHA:261318
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma, Hypoplasia of the iris, Hydronephrosis, Multiple central nervous s... OMIM:613001
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253000
Chanarin-Dorfman Syndrome
Ataxia, Alopecia, Subcapsular cataract OMIM:275630
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Alopecia, Renal insufficiency, Reduced subcutaneous adipose tissue, Abnor... OMIM:137940
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal vertebral morphology, Alopecia, Supernumerary nipple, Truncal obesity, Hypospadias ORPHA:3224
Bleeding Disorder, Platelet-Type, 21
Alopecia, Thrombocytopenia, Increased mean platelet volume OMIM:617443
Mevalonic Aciduria
Progressive cerebellar ataxia, Cataract, Nuclear cataract, Failure to thrive, Fluctuating splenom... OMIM:610377
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Kyphosis, Sacral di... OMIM:618272
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Sparse h... ORPHA:1883
Gm1-Gangliosidosis, Type I
Abnormality of the urinary system, Hypertrichosis, Inguinal hernia, Splenomegaly, Hypoplastic ver... OMIM:230500
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Difficulty walking, Thick eyebrow, Kyphoscoliosis, Camptodactyly o... OMIM:300280
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Low anterior hairline, Pr... ORPHA:261222
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Premature graying of hair, Elbow flexion contracture, D... OMIM:616200
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Flex... OMIM:618484
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Cataract, Nephrocalcinosis, Nail dystrophy, Keratoconjunctivitis,... OMIM:240300
Monosomy 9P
Highly arched eyebrow, Hypospadias, Abnormality of the vertebral column, Thick eyebrow, Ureterope... ORPHA:261112
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Displacement of the urethral... ORPHA:3378
Holocarboxylase Synthetase Deficiency
Alopecia, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lethargy, 3-hydroxyis... OMIM:253270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Elbow contracture, Difficulty walking, Hyperlordosis, Achilles tendon contracture, ... OMIM:606612
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Alopecia, Nail dystrophy ORPHA:3162
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Obesity, Thick eyebrow, Micropenis, Camptodactyl... OMIM:615547
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Enamel hypoplasia, Scoliosis, Kyphosis, Irregular vertebral end... OMIM:234250
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria, Hyperlordosis, Achilles tendon ... OMIM:607155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Difficulty walking, Limb ataxia, Gait disturbance, Truncal ataxia, Unsteady gait, Impai... ORPHA:412057
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Scoliosis, Kyphosis, Bradykinesia OMIM:617435
Bathing Suit Ichthyosis
Alopecia, Impaired temperature sensation, Nail dystrophy, Multiple joint contractures, Sparse hair ORPHA:100976
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Adams-Oliver Syndrome 2
Alopecia, Small nail, Developmental cataract, Low anterior hairline OMIM:614219
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Scoliosis, Kyphosis, Corneal erosion ORPHA:816
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Vertebral segmentation defect, Abnormal toenail morp... ORPHA:1005
Adrenoleukodystrophy
Alopecia, Urinary bladder sphincter dysfunction, Limb ataxia, Urinary incontinence, Truncal ataxi... OMIM:300100
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Scarring OMIM:247100
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Hernia of the abdominal wall, Short neck, Uncombable hair, Slow-growing... ORPHA:3082
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Failure to thrive, Nail dystrophy, Ataxia, Sparse hair OMIM:616353
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteron... ORPHA:189427
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Nail dystrophy, Patchy alopecia, Enamel hypoplasia, Fragile nails OMIM:226650
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Nail dystroph... ORPHA:3322
Ullrich Congenital Muscular Dystrophy
Elbow flexion contracture, Knee flexion contracture, Short neck, Flexion contracture, Scoliosis, ... ORPHA:75840
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Splenomegaly, Short neck, Lipodystrophy, Polycystic kidne... OMIM:608776
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Opacification of the corneal stroma, Nail dystrop... OMIM:614594
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis, Enamel ... OMIM:614564
Wolfram Syndrome 1
Cataract, Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic an... OMIM:222300
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Flexion contracture, Sparse hair OMIM:242300
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Failure to thrive, Brittle hair ORPHA:50812
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Increased circulating cortisol level, Abnormal fingernail morphology, Opacifi... ORPHA:3453
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, Anemia, Panniculitis OMIM:618398
Monosomy 18P
Low posterior hairline, Alopecia, Kyphoscoliosis, Short neck ORPHA:1598
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Abnormal renal ... ORPHA:2720
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Alopecia, Widened atrophic scar, Umbilical hernia, Impaired temperature sensation, In... ORPHA:536532
Gomez-Lopez-Hernandez Syndrome
Alopecia, Opacification of the corneal stroma, Ataxia OMIM:601853
Myopathy, Centronuclear, 2
Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Waddling gait OMIM:255200
Ane Syndrome
Alopecia, Lipoatrophy, Multiple joint contractures, Kyphoscoliosis ORPHA:157954
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Synophrys ORPHA:2471
Transcobalamin Ii Deficiency
Failure to thrive, Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia,... OMIM:275350
Hand-Foot-Genital Syndrome
Small nail, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obstruction, Vesicoureter... OMIM:140000
Gm1 Gangliosidosis
Platyspondyly, Ataxia, Failure to thrive, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:354
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Coarse hair, Hypoplasia of the odontoid process, Anterior ... OMIM:253220
Smith-Magenis Syndrome
Microcornea, Abnormal form of the vertebral bodies, Impaired pain sensation, Failure to thrive in... ORPHA:819
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal dental enamel morphology, Grayish enamel, Hernia, ... ORPHA:582
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Short neck, Flexion contracture, Scoliosis, Kyphosis ORPHA:178148
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Biotinidase Deficiency
Alopecia, Organic aciduria, Splenomegaly, Lethargy, Ataxia, Conjunctivitis OMIM:253260
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis OMIM:617768
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Keratoconjunctivitis, Iron deficiency anemia, Steatorrhea, ... OMIM:269200
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Failure to thrive, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Scoliosis, Kyphosis, Umbilical hernia ORPHA:2181
Mixed Connective Tissue Disease
Nephropathy, Alopecia, Leukopenia, Splenomegaly, Keratoconjunctivitis sicca, Hemolytic anemia ORPHA:809
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Distal arthrogryposis, Congenital finger flexion contractures, Scoliosi... OMIM:108145
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Scoliosis, Lo... OMIM:156530
Okamoto Syndrome
Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Ur... ORPHA:2729
Macs Syndrome
Alopecia, Sparse eyebrow, Umbilical hernia, Decreased body weight, Sparse hair, Scoliosis, Urethr... OMIM:613075
Rothmund-Thomson Syndrome, Type 2
Cataract, Alopecia, Sparse eyebrow, Microcornea, Premature graying of hair, Nail dystrophy, Spars... OMIM:268400
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Failure to thrive in infancy, Nail dystrophy, Autoimmune hemolytic anemia, Splenomegaly... ORPHA:37042
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Renal hypoplasia, Peters anomaly, Failure to thrive, Lymphopen... OMIM:618460
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Alopecia, Hypospadias OMIM:618840
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Ataxia, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine... OMIM:253010
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyebrow, Umbilical hernia, Megalocornea, Breast hypoplasia, Sparse ... OMIM:230740
Cockayne Syndrome Type 2
Difficulty walking, Scarring, Gait disturbance, Enamel hypoplasia, Developmental cataract, Ataxia... ORPHA:90322
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, Ab... ORPHA:2311
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, Contracture ... OMIM:130060
Congenital Myopathy 17
Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Hydronephrosi... OMIM:618975
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyebrow, Abnormal form of the vertebral bodies, Umbilical hernia, S... ORPHA:2067
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Ataxia, Hemophagocytosis, Ocular albinism, Leukopenia, G... OMIM:214500
Alstrom Syndrome
Nephritis, Alopecia, Obesity, Renal insufficiency, Subcapsular cataract, Truncal obesity, Hypertr... OMIM:203800
Mucopolysaccharidosis Type 6
Failure to thrive, Splenomegaly, Hernia, Short neck, Mucopolysacchariduria, Opacification of the ... ORPHA:583
15Q24 Microdeletion Syndrome
Hypospadias, High anterior hairline, Kyphosis, Failure to thrive, Microphallus, Obesity, Congenit... ORPHA:94065
Koolen-De Vries Syndrome
Cataract, Hypospadias, Abnormal dental enamel morphology, Vesicoureteral reflux, Renal duplicatio... ORPHA:96169
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Long eyelashes, Leukopenia, Proteinuria, Neutropenia, Schist... OMIM:301110
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Kyphosis ORPHA:1548
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the ureter, Obesity, Short neck, Hypoplasia of penis, Kyp... ORPHA:3409
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Failure to thrive, Alopecia totalis, Abnormal lymphocyte morphology, Nail dystrophy, De... ORPHA:293978
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormal hair morphology, Absent eyebrow, Abnormality of the kidne... ORPHA:2273
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Sacral dimple, Large for gestational age, Inguinal hernia, ... ORPHA:544488
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes OMIM:616367
Fucosidosis
Kyphosis, Failure to thrive, Mucopolysacchariduria, Corneal opacity, Anterior beaking of lumbar v... ORPHA:349
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Failure to thrive, Atrophic scars, Nail dystrophy, Scarring, Enamel hypoplasia, Corneal... ORPHA:79396
Kabuki Syndrome 1
Abnormal vertebral morphology, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Hemoly... OMIM:147920
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Horseshoe kidney, Hyperphosphaturia, Kyphoscoliosis, Corneal opacity OMIM:163200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Horseshoe kidney, Inguinal hernia, Absent eyelashes, Renal cyst, Absent eye... ORPHA:166035
Sotos Syndrome
Abnormal vertebral morphology, Small nail, Hip contracture, Abnormality of the kidney, Acute lymp... ORPHA:821
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Myopic astigmatism, Inability to walk, Obesity, Thick eyebrow, Thoracolumbar scoliosis, Hyperlord... OMIM:618443
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Failure to thrive OMIM:618234
Dyskeratosis Congenita, Digenic
Alopecia, Failure to thrive, Nail dystrophy, Sparse eyelashes, Anemia OMIM:620040
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Absence of the sacrum, Ureteral stenosis, Ureteral duplication, Asplenia OMIM:270100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Unilateral renal agenesis, Camptodactyly of finger, Supernumerary nipple, ... OMIM:619951
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Thrombocytopenia, Hypertriglyceridem... OMIM:617591
Bartsocas-Papas Syndrome
Popliteal pterygium, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Renal hy... ORPHA:1234
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Becker Nevus Syndrome
Supernumerary nipple, Spina bifida occulta, Scoliosis, Kyphosis, Lipoatrophy ORPHA:64755
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Gait disturbance, Atax... ORPHA:702
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Hypertriglyceride... OMIM:615381
Hurler Syndrome
Hypoplasia of the odontoid process, Umbilical hernia, Heparan sulfate excretion in urine, Hepatos... OMIM:607014
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Enamel hypoplasia, Thick hair, Sparse hair OMIM:607626
Johnson Neuroectodermal Syndrome
Alopecia, Failure to thrive, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2316
Rothmund-Thomson Syndrome
Sparse eyebrow, Small for gestational age, Aplastic anemia, Small nail, Abnormal dental enamel mo... ORPHA:2909
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures ORPHA:3454
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Failure to thrive, Punctate vertebral calcifications, Sparse eyelashes,... OMIM:302960
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Fibrodysplasia Ossificans Progressiva
Progressive cervical vertebral spine fusion, Alopecia, Scoliosis, Small cervical vertebral bodies OMIM:135100
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Pterygium... OMIM:259450
Atypical Rett Syndrome
Impaired pain sensation, Inability to walk, Gait ataxia, Loss of ambulation, Gait disturbance, Sc... ORPHA:3095
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Leukop... ORPHA:227990
Smith-Lemli-Opitz Syndrome
Cataract, Renal hypoplasia, Unilateral renal agenesis, Renal agenesis, Failure to thrive, Hypocho... OMIM:270400
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Corneal opacity, Iris ... ORPHA:1647
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat OMIM:176670
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Weismann-Netter Syndrome
Kyphosis, Anemia, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis, Pterygium ORPHA:525
Difference Of Sex Development-Intellectual Disability Syndrome
Low posterior hairline, Short neck, Abnormal hair pattern, Spina bifida occulta, Hypoplasia of pe... ORPHA:2983
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Failure to thrive, Abnormal eyebrow morphology, Ridged nail, Weight ... ORPHA:37
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Inguinal hernia, Generalized hirsutism, Hematuria, Abnor... ORPHA:3121
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elbow flexion contracture, Kyphosis, Waddling gait OMIM:618138
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Abnormal form of the vertebral bodies, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Mucolipidosis Iii Gamma
Claw hand deformity, Short neck, Mucopolysacchariduria, Hyperlordosis, Finger joint contracture, ... OMIM:252605
Copper Deficiency, Familial Benign
Anemia, Early balding, Failure to thrive, Curly hair OMIM:121270
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hepatosplenomegaly, Thoracic scoliosis, Hirsutism, Thrombocy... ORPHA:79330
4Q21 Microdeletion Syndrome
Long eyelashes, Generalized hirsutism, Short neck, Scoliosis, Kyphosis, Synophrys ORPHA:238750
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Kyphosis ORPHA:500180
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Nail dystrophy, Sparse eyelashes, Flexion contractur... OMIM:614008
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Low posterior hairline,... ORPHA:2916
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Hydroureter, Camptodactyly of finger, Renal hypoplasia/aplasi... ORPHA:568
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Corneal dystrophy, N... ORPHA:314588
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes,... ORPHA:221008
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Thrombocytopenia, Small for gestational age, Normochromic anemia OMIM:618775
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
19P13.12 Microdeletion Syndrome
Hypospadias, Obesity, Hyperlipidemia, Generalized hirsutism, Short neck, Scoliosis, Arthrogryposi... ORPHA:254346
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Triosephosphate Isomerase Deficiency
Normocytic anemia, Failure to thrive, Splenomegaly, Macrocytic anemia, Unsteady gait, Hemolytic a... OMIM:615512
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent eyelashes... ORPHA:90153
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia OMIM:154230
Frank-Ter Haar Syndrome
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Beaking of vertebral bodies, Scoliosi... ORPHA:137834
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Dysmetria, Abnormal subcuta... OMIM:212065
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Flexion contractu... OMIM:619040
Typical Nemaline Myopathy
Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Flexion contracture, Scoliosis, Arthr... ORPHA:171436
Gabriele-De Vries Syndrome
Sparse eyebrow, Breast hypoplasia, Frontal upsweep of hair, Astigmatism, Ureteropelvic junction o... ORPHA:506358
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Scoliosis, Kyphosis ORPHA:79327
Systemic Lupus Erythematosus
Alopecia, Leukopenia, Chorea, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Thrombocytope... ORPHA:536
Schwartz-Jampel Syndrome
Abnormality of the ureter, Hip contracture, Decreased body weight, Generalized hirsutism, Cachexi... ORPHA:800
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Abdominal obesity, Micropenis, Hypospadias, Kyphosis OMIM:300354
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Hypospadias, Inguinal hernia, Hydronephrosis, Sparse hair, Scoliosis, Kyph... OMIM:616449
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Failure to thrive, Lethargy OMIM:210210
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Leukop... ORPHA:227982
Bartsocas-Papas Syndrome 1
Axillary pterygium, Alopecia, Popliteal pterygium, Small nail, Pterygium, Alopecia totalis, Ingui... OMIM:263650
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Obesity, Inguinal hernia, Abnormal hair pattern, Cache... ORPHA:85293
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Recurrent urinary tract infection... OMIM:609029
Alopecia Universalis
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail ORPHA:701
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Low anterior hairline, Low posterior hairline, Lumbar scoliosis... OMIM:609128
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Inability to walk, Ureteropelvic junction obstruction, Hydronephrosis, Neuroge... OMIM:616973
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Failure to thrive, Onychogryposis of toenails, Fingernail... ORPHA:2309
Cockayne Syndrome Type 3
Lentiglobus, Dry hair, Premature graying of hair, Difficulty walking, Unsteady gait, Corneal ulce... ORPHA:90324
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Failure to thrive, Sideroblastic anemia, Pancytopenia, Punctate kerati... OMIM:557000
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Hip contracture, Short neck, Achilles tendon contracture, Urinary incontinence... OMIM:301041
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Scoliosis, Kyphosis OMIM:259440
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Elbow... ORPHA:508533
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Subaortic Stenosis-Short Stature Syndrome
Obesity, Inguinal hernia, Short neck, Scoliosis, Kyphosis ORPHA:3191
Hemochromatosis, Type 1
Alopecia, Splenomegaly OMIM:235200
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity, Umbilical hernia ORPHA:1035
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal hair quantity ORPHA:3098
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Hypertrichosis, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary... OMIM:309900
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes,... ORPHA:221016
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Harrod Syndrome
Cataract, Multicystic kidney dysplasia, Hypospadias, Failure to thrive, Scoliosis, Kyphosis ORPHA:2115
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Lumb... ORPHA:2232
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Vater/Vacterl Association
Abnormal vertebral morphology, Failure to thrive, Renal agenesis, Vesicoureteral reflux, Ureterop... OMIM:192350
Micro Syndrome
Cataract, Microcornea, Abnormal localization of kidney, Generalized hirsutism, Hydronephrosis, Hy... ORPHA:2510
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Kyphosis, Fair hair, Failure to thrive, Recurrent urinary tract ... OMIM:610443
Wieacker-Wolff Syndrome
High anterior hairline, Kyphosis, Short neck, Hyperlordosis, Camptodactyly, Scoliosis, Arthrogryp... OMIM:314580
Insulin-Resistance Syndrome Type B
Nephritis, Alopecia, Glycosuria, Leukopenia, Decreased body weight, Increased body weight, Hirsut... ORPHA:2298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia, Nail dystrophy ORPHA:90154
Wiedemann-Rautenstrauch Syndrome
Small nail, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, Short neck, ... OMIM:264090
Camurati-Engelmann Disease
Abnormality of the vertebral column, Urinary retention, Slender build, Leukopenia, Splenomegaly, ... ORPHA:1328
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... ORPHA:508542
Giant Cell Arteritis
Alopecia, Paresthesia, Renal insufficiency, Hematuria, Weight loss, Ataxia ORPHA:397
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Failure to thrive, Sparse ... OMIM:610768
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnormality of the ureter, Renal insufficiency,... ORPHA:3027
Cockayne Syndrome
Lentiglobus, Dry hair, Difficulty walking, Reduced subcutaneous adipose tissue, Cachexia, Ataxia,... ORPHA:191
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Scoliosis OMIM:620651
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, HbH hemoglobin, Renal agenesis, Umbilical hernia, Kyphoscoliosis, Hydronephrosis, He... OMIM:301040
Leprosy
Corneal perforation, Alopecia, Sparse body hair, Dissociated sensory loss, Abnormality of the spl... ORPHA:548
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma