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Gene: Trpm6 MGI:2675603

Gene Summary

Name:

transient receptor potential cation channel, subfamily M, member 6

Synonyms:

CHAK2

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased body length	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	3.62×10^-07
increased grip strength	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	6.65×10^-06
decreased circulating phosphate level	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	4.71×10^-05
decreased mean corpuscular volume	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	9.67×10^-06
abnormal eye anterior chamber depth	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	2.89×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Trpm6 mutations

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

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

Human diseases associated with Trpm6 (1 diseases)
Human diseases predicted to be associated with Trpm6 (658 diseases)

The table below shows human diseases associated to Trpm6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypomagnesemia 1, Intestinal		Hypocalcemia, Hypomagnesemia	OMIM:602014

The table below shows human diseases predicted to be associated to Trpm6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Short neck, Hyperlordosis, Abnormal sacrum morphology, Wide nasal bridge, Verte...	ORPHA:1797
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Acrofacial Dysostosis, Catania Type	Intrauterine growth retardation, Spina bifida occulta, Cryptorchidism	OMIM:101805
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Spina bifida occulta	ORPHA:1514
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Sacrococcygeal pilonidal abnormality, Depressed nasal bridge	ORPHA:2840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis	OMIM:184400
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Nevus Comedonicus Syndrome	Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida	ORPHA:64754
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1	OMIM:102510
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Depressed nasal bridge, Anteverted nares, Short neck, Ky...	ORPHA:2311
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Hypogonadism, Short nose, Spina bifida occulta	ORPHA:2983
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Depressed nasal bridge	ORPHA:2305
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Three M Syndrome 1	Depressed nasal bridge, Anteverted nares, Short neck, Hyperlordosis, Increased vertebral height, ...	OMIM:273750
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Spina bifida occulta, Tethered cord	OMIM:615281
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Hypophosphatemia	ORPHA:2611
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Spina bifida occulta, Anteverted nares	ORPHA:1185
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Abnormal vertebral morphology, Short neck	ORPHA:2015
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo...	OMIM:613686
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Scoliosis	ORPHA:177
Acrofacial Dysostosis, Palagonia Type	Short neck, Bulbous nose, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:1787
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Spina bifida occulta, Anteverted nares, Spondylolisthesis	OMIM:617877
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Scoliosis	OMIM:618736
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta	OMIM:618060
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Myelomeningocele, Hydrocep...	ORPHA:1914
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Acrofacial Dysostosis, Catania Type	Intrauterine growth retardation, Short nose, Spina bifida occulta, Cryptorchidism	ORPHA:1786
White Forelock With Malformations	Spina bifida occulta	ORPHA:2475
Arthrogryposis, Distal, Type 2A	Kyphoscoliosis, Short neck, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Scolios...	OMIM:193700
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Acrocraniofacial Dysostosis	Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies,...	ORPHA:949
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Scoliosis, Intrauterine growth retardati...	OMIM:617360
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Craniosynostosis 6	Spina bifida occulta, Scoliosis	OMIM:616602
Alagille Syndrome	Long nose, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ...	ORPHA:52
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta	ORPHA:230839
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta	ORPHA:2437
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver...	OMIM:155050
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae	OMIM:619227
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc...	ORPHA:1578
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Carpenter Syndrome 1	Sacral dimple, Depressed nasal bridge, Short neck, Persistence of primary teeth, Cryptorchidism, ...	OMIM:201000
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Hyperlordosis, Wide nasal bridge, Scoliosis, Spina bifida occulta	ORPHA:2780
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta	OMIM:268850
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Short neck, Depressed nasal ridge, Intrauterine growth retardation, Short nose	ORPHA:1832
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Distal Deletion 10Q	Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Short nose, Spin...	ORPHA:96148
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
3Mc Syndrome	Hyperlordosis, Abnormal nasal morphology, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, ...	ORPHA:293843
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
17Q21.31 Microduplication Syndrome	Short nose, Anteverted nares	ORPHA:217340
Rhiny	Short nose, Anteverted nares	OMIM:180360
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Short nose, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2370
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Non-Distal Duplication 10Q	Depressed nasal bridge, Cryptorchidism, Scoliosis, Short nose, Convex nasal ridge	ORPHA:1695
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Joubert Syndrome 15	Exencephaly	OMIM:614464
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Cystinosis	Hypokalemia, Corneal opacity, Hypophosphatemia	ORPHA:213
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Wide nasal bridge, Decreased fertility, Scoliosis, Intrauterine growth retardatio...	ORPHA:500
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Scoliosis, Short nose	OMIM:618577
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph...	ORPHA:2369
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Autosomal Recessive Multiple Pterygium Syndrome	Cryptorchidism, Vertebral segmentation defect, Hypogonadism, Scoliosis, Umbilical hernia, Spina b...	ORPHA:2990
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Scoliosis, ...	OMIM:235510
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Scoliosis, Intrauterine gro...	OMIM:301030
Larsen Syndrome	Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Spinal cord compression, Cryptorchid...	OMIM:150250
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Maxillonasal Dysplasia	Depressed nasal bridge, Vertebral clefting, Depressed nasal ridge, Short columella, Scoliosis, Ab...	ORPHA:1248
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Cleidocranial Dysplasia	Delayed eruption of teeth, Depressed nasal bridge, Abnormal sacrum morphology, Scoliosis, Spina b...	ORPHA:1452
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Hypophosphatemia	OMIM:616026
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Scoliosis	OMIM:618379
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Wide anterior fontanel, Hydroce...	ORPHA:235
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Depressed nasal bridge, Anteverted nares, Spina bifida, Abnormality of dental erup...	ORPHA:1327
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Wide nose, Depressed nasal bridge, Broad nasal tip, Intrauterine growth retardation, Spina bifida...	OMIM:300707
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares	ORPHA:1450
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Pseudohypoparathyroidism, Type Ic	Cataract, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany	OMIM:612462
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Broad nasal tip, Depressed nasal tip, Wide nasal base, Spina bifida occulta, Broad co...	ORPHA:488434
Verheij Syndrome	Branchial cyst, Vertebral fusion, Anteverted nares, Broad nasal tip, Short neck, Hemivertebrae, W...	OMIM:615583
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Depressed nasal ridge, Short nose	OMIM:613885
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Choanal atresia, Fused cervical vertebrae, Choanal stenosis, Sco...	OMIM:607323
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypomagnesemia	OMIM:248190
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Short columella, Umbilic...	ORPHA:171839
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Depressed nasal ridge, Platyspondyly, Intrauterine growth retardation, Short nose	OMIM:300863
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Duane Retraction Syndrome	Anteverted nares, Short neck, Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:233
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Prominent nasal bridge, Short neck, Broad nasal tip, Bilateral cryptorchidism, Umb...	OMIM:613544
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Cryptorchidism, Hemivertebrae, Chordee, Choanal stenosis, Intrauterine growth re...	OMIM:151050
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Cryptorchidism, Hydrocephalus, Short nose	ORPHA:2701
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Hypogonadism, Short nose, S...	OMIM:302950
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Bilateral cryptorchidism, ...	OMIM:619859
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short nose, Depressed nasal bridge, Hydrocephalus	OMIM:241800
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Short neck	ORPHA:221054
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Cryptorchidism, Scoliosis, Intrauterine growth retardation, Short nose	OMIM:615419
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Short nose, Depressed nasal bridge, Cryptorchidism	OMIM:616910
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Hydrocephalus, Wide nasal bridge, Scoliosis, Thoracolumbar kyphosis, Spina bifida oc...	OMIM:300373
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Pierpont Syndrome	Wide nose, Short neck, Broad nasal tip, Cryptorchidism, Scoliosis, Short nose	OMIM:602342
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Scoliosis	OMIM:618218
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Ovoid vertebral bodies, Short nose	ORPHA:969
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Short nose, Scoliosis	ORPHA:2429
Hypomagnesemia 3, Renal	Hyperuricemia, Hypomagnesemia	OMIM:248250
Leopard Syndrome 1	Kyphoscoliosis, Short neck, Cryptorchidism, Depressed nasal ridge, Hypoplasia of the ovary, Hypos...	OMIM:151100
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Cataract, Hyperphosphatemia, Obesity	OMIM:103580
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Edinburgh Malformation Syndrome	Hydrocephalus, Short nose, Anteverted nares, Choanal atresia	ORPHA:1895
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Abnormal cornea morphology, Hypokalemia, Hypo...	ORPHA:411629
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Neutropenia, Hypophospha...	ORPHA:699
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
17P13.3 Microduplication Syndrome	Wide nose, Short nose, Short neck	ORPHA:217385
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Depressed nasal ridge, Platyspondyly, Intrauterine growth retardation, Short nose	ORPHA:163966
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Increased intervertebral s...	OMIM:618961
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
14Q11.2 Microdeletion Syndrome	Short nose, Depressed nasal bridge	ORPHA:261120
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Scoliosis	ORPHA:2598
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D...	ORPHA:1791
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Broad nasal tip, Wide nasal bridge, Scoliosis, Umbilical hernia, Spina...	OMIM:135500
Potocki-Shaffer Syndrome	Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Peho-Like Syndrome	Short nose	OMIM:617507
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Intrauterine growth retardation, Short nose	ORPHA:1495
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Delayed eruption of permanent teeth, Anteverted nares	OMIM:618506
Incontinentia Pigmenti	Delayed eruption of teeth, Umbilical hernia, Spina bifida occulta, Scoliosis	ORPHA:464
Miller-Dieker Syndrome	Sacral dimple, Short nose, Anteverted nares	ORPHA:531
Cystinosis, Nephropathic	Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho...	OMIM:219800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Hydrocephalus	ORPHA:163961
Diamond-Blackfan Anemia 1	Short neck, Depressed nasal ridge, Hypoplastic sacral vertebrae, Bifid thoracic vertebrae, Hypopl...	OMIM:105650
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Waardenburg Syndrome Type 1	Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Scoliosis, Short nose	ORPHA:894
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Neonatal death, Short nose	OMIM:610015
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose	ORPHA:1529
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Spinal canal stenosis, Intrauterine gro...	OMIM:614613
Rubinstein-Taybi Syndrome 1	Spina bifida, Prominent nose, Bilateral cryptorchidism, Wide anterior fontanel, Cryptorchidism, R...	OMIM:180849
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Bulbous nose, Wide nasal bridge, Intrauterine growth retardation, Short nose	OMIM:613604
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella	OMIM:617752
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progressive intervertebral...	ORPHA:1716
Knobloch Syndrome 1	Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Occipital meningocele, Spina bifid...	OMIM:267750
Fryns Microphthalmia Syndrome	Neural tube defect, Abnormality of the vertebral column	OMIM:600776
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Even-Plus Syndrome	Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, ...	OMIM:616854
3Mc Syndrome 1	Wide anterior fontanel, Sacral dimple, Spina bifida occulta, Caudal appendage	OMIM:257920
Frontometaphyseal Dysplasia	Fused cervical vertebrae, Spina bifida occulta, Wide nasal bridge, Scoliosis	ORPHA:1826
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short...	OMIM:619736
Acrodysostosis	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Depressed na...	ORPHA:950
Achondrogenesis	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:932
Chung-Jansen Syndrome	Cryptorchidism, Short nose, Anteverted nares	OMIM:617991
Perlman Syndrome	Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge	ORPHA:2849
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vertebral bodies, Short nose	ORPHA:2831
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Abnormal form of the vertebr...	ORPHA:1458
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Sacral dimple, Depressed nasal ridge, Exencephaly, Wide nasal bridge	ORPHA:2211
Lowry-Maclean Syndrome	Choanal atresia, Delayed eruption of primary teeth, Bilateral cryptorchidism, Hydrocephalus, Intr...	ORPHA:2409
Poland Syndrome	Encephalocele, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Vertebral segmentation defect...	ORPHA:2911
Baller-Gerold Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Wide anterior fontanel, Hydrocephalus, Concave...	OMIM:218600
Peters Plus Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Hydrocephalu...	ORPHA:709
Dent Disease 1	Hypophosphatemia	OMIM:300009
Achondrogenesis Type 1B	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:93298
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Holoprosencephaly, Sco...	ORPHA:280200
Trigonocephaly 1	Short nose, Lumbar hemivertebrae, Wide nasal bridge	OMIM:190440
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Fetal Trimethadione Syndrome	Intrauterine growth retardation, Short nose, Depressed nasal bridge, Scoliosis	ORPHA:1913
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Platyspondyly, Scoliosis, Short nose	ORPHA:166272
Achondrogenesis Type 1A	Umbilical hernia, Short nose, Anteverted nares, Short neck	ORPHA:93299
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine growth retardation, Short nose, Depressed nasal bridge, Cryptorchidism	OMIM:614732
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short neck, Wide anterior fonta...	ORPHA:163649
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Short neck, Underdeveloped nasal alae, Cryptorchidism, Intrauterine growt...	ORPHA:2083
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Anemia, Hypoka...	ORPHA:534
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Broad nasal tip, Atlantoaxial instability, Depressed nasal ridge, Spinal canal...	ORPHA:79345
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Anteverted nares, Broad nasal tip, Short neck, Wide nasal bri...	ORPHA:508488
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Meningocele, Anteverted nares, Underdeveloped nasal alae	ORPHA:2031
Focal Dermal Hypoplasia	Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Broad nasal tip, Cryptorchidism, ...	OMIM:305600
Camptodactyly Syndrome, Guadalajara, Type Iii	Spina bifida occulta, Short neck	OMIM:611929
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Choanal atresia, Broad nasal ti...	OMIM:135900
Popliteal Pterygium Syndrome	Cryptorchidism, Spina bifida occulta	OMIM:119500
Blepharocheilodontic Syndrome 1	Neural tube defect, Choanal atresia	OMIM:119580
Doors Syndrome	Anteverted nares, Broad nasal tip, Bulbous nose, Hemivertebrae, Wide nasal bridge, Sirenomelia, D...	ORPHA:79500
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Platyspondyly, Stillbirth, Umbilical hernia, Short nose, Narr...	OMIM:269250
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Hydrocephalus, Scoliosis, Intrauterine growth retardation, Short nose	OMIM:619833
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Conjunctival whitish salt-like deposits	OMIM:211900
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Abnormal vertebral epiphysis morphology, Short nose, Convex ...	ORPHA:3121
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Short nose, Platyspondyly	ORPHA:90653
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide nasal bridge, Umbilical he...	ORPHA:369891
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Short nose, Convex nasal ridge	ORPHA:2145
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Abnormal vertebral morphology	ORPHA:99688
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Umbilical hernia, Depressed nasal bridge	ORPHA:2143
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Pterygium Colli, Isolated	Short nose	OMIM:177990
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose	OMIM:618828
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Depressed nasal bridge, Anteverted nares, Prominent nose, Cryptorchidism, Wide nasal bridge, Scol...	OMIM:618316
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Kyphoscoliosis, Short neck, Scoliosis, Intrauterine growth retardati...	ORPHA:391408
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Congenital Disorder Of Glycosylation, Type Iu	Short nose, Scoliosis	OMIM:615042
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Short nose, Dysplastic sacrum, S...	OMIM:613320
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Short neck, Thoracic platyspondyly, Cryptorchidism, Fused ...	OMIM:108720
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Prominent nose, Cryptorchidism, Irregular vertebral endplates, Prominent ...	ORPHA:439822
Pseudohypoparathyroidism Type 1C	Calcinosis, Cataract, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic teta...	ORPHA:79444
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose	OMIM:101600
Desbuquois Dysplasia 1	Depressed nasal bridge, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Concave nasal ridge, ...	OMIM:251450
Harel-Yoon Syndrome	Short nose, Scoliosis	OMIM:617183
3C Syndrome	Depressed nasal bridge, Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Wide nasal bridge, Sc...	ORPHA:7
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Periventricular Nodular Heterotopia 7	Cryptorchidism, Short nose, Anteverted nares	OMIM:617201
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Scoliosis, Short nose, Broad columella,...	OMIM:619383
Raine Syndrome	Hypophosphatemia	OMIM:259775
Trisomy 20P	Anteverted nares, Spina bifida, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb...	ORPHA:261318
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:615716
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Prominent nasolabial fold, Recurrent upper respiratory tract infections, Short nose, Broad nasal tip	ORPHA:391372
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Intervertebral space narrowing, Wide nasal bridge	OMIM:614078
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Delayed eruption of permanent teeth, Anteverted nares	OMIM:619356
Tetrasomy 12P	Delayed eruption of teeth, Short nose, Anteverted nares, Short neck	ORPHA:884
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Short neck, Wide nasal bridge, Platyspondyly, Intrauterine growth retardation, ...	OMIM:616897
Holoprosencephaly 7	Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas...	OMIM:610828
14Q24.1Q24.3 Microdeletion Syndrome	Cryptorchidism, Short nose, Prominent nasal bridge, Wide nasal bridge	ORPHA:401935
Oculoauricular Syndrome	Spina bifida occulta	OMIM:612109
Autosomal Dominant Kenny-Caffey Syndrome	Developmental cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Anemia	ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Smith-Kingsmore Syndrome	Depressed nasal bridge, Wide anterior fontanel, Cryptorchidism, Umbilical hernia, Short nose	OMIM:616638
Williams Syndrome	Sacral dimple, Hypogonadotropic hypogonadism, Hyperlordosis, Kyphosis, Cryptorchidism, Wide nasal...	ORPHA:904
Dent Disease	Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Femoral-Facial Syndrome	Cryptorchidism, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, Short nose	ORPHA:1988
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Anteverted nares, Vertebral clefting, Hemivertebrae, Wide nasal bridge, Lobar holoprosencephaly, ...	OMIM:614701
Pallister-Hall Syndrome	Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, Hemiverte...	OMIM:146510
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short nose, Depressed nasal bridge, Short neck	OMIM:608776
Isolated Posterior Meningocele	Occipital meningocele, Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tu...	ORPHA:268810
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Tetrasomy 5P	Anteverted nares, Short neck, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge, Short nose	ORPHA:3309
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Wide nasal bridge, Scoliosis	OMIM:218000
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Tetrasomy 18P	Short nose, Scoliosis	ORPHA:3307
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose	OMIM:249620
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Short nose	OMIM:300143
Fibrochondrogenesis 2	Short nose, Anteverted nares, Platyspondyly	OMIM:614524
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Spina bifida occulta	ORPHA:500095
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares	OMIM:619854
Pseudohypoparathyroidism Type 1A	Calcinosis, Cataract, Band keratopathy, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia,...	ORPHA:79443
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614105
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Short neck, Prominent nose, Cryptorchidism, Intrauter...	ORPHA:363528
Baraitser-Winter Syndrome 1	Anteverted nares, Short neck, Cryptorchidism, Wide nasal bridge, Short nose	OMIM:243310
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Bulbous nose, Wide nasal b...	OMIM:615803
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Bulbous nose, Depressed nasal bridge, Short nose, Scoliosis	OMIM:618430
Fetal Hydantoin Syndrome	Intrauterine growth retardation, Short nose, Depressed nasal ridge, Cryptorchidism	ORPHA:1912
Smith-Magenis Syndrome	Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teeth, Wide nasal bridge, A...	ORPHA:819
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, Intrauterine growth retardation, Bulbous nose, Short nose	ORPHA:485405
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Hyperlordosis, Underdeveloped nasal alae, Hypoplasia of the odontoid proc...	OMIM:616007
Aarskog-Scott Syndrome	Anteverted nares, Short neck, Bilateral cryptorchidism, Hypoplasia of the odontoid process, Cervi...	OMIM:305400
Micro Syndrome	Anteverted nares, Kyphosis, Cryptorchidism, Wide nasal bridge, Scoliosis, Intrauterine growth ret...	ORPHA:2510
20Q11.2 Microduplication Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Sever...	ORPHA:363659
Bainbridge-Ropers Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa...	OMIM:615485
Alg3-Cdg	Neural tube defect, Abnormality of the nose	ORPHA:79321
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr...	OMIM:600145
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Hydrocephalus, Scoliosis, Short nose	OMIM:618590
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Short neck, Wide anterior fontanel, Platyspondyly, Stil...	OMIM:228520
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Developme...	ORPHA:124
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose	OMIM:300887
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Depressed nasal bridge	ORPHA:210548
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose	ORPHA:93259
Lathosterolosis	Abnormal thoracic spine morphology, Anteverted nares, Bulbous nose, Meningocele, Intrauterine gro...	ORPHA:46059
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Kyphosis, Bulbous nose, Wide nasal bridge, Scoliosis, Short nose	OMIM:617061
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Short nose, Depressed nasal bridge	ORPHA:93258
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose	ORPHA:261144
Fetal Alcohol Syndrome	Intrauterine growth retardation, Short nose, Anteverted nares, Vertebral segmentation defect	ORPHA:1915
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Hydrocephalus, I...	OMIM:257300
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short nose	OMIM:617822
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Holoprosencephaly, Short nose	ORPHA:261236
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Scoliosis	ORPHA:544503
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Short nose, Scoliosis	ORPHA:496790
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Wide nasal bridge, Thoracic kyphosis, Scoliosis, Short nose	OMIM:620250
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
16P11.2P12.2 Microdeletion Syndrome	Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Intrauterine growth retardation, ...	ORPHA:261211
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Autosomal Dominant Omodysplasia	Cryptorchidism, Short nose, Depressed nasal bridge	ORPHA:93328
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short nose	OMIM:613603
Rhombencephalosynapsis	Short nose, Anteverted nares, Hydrocephalus	ORPHA:59315
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Gomez-Lopez-Hernandez Syndrome	Wide anterior fontanel, Short nose, Anteverted nares	OMIM:601853
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Short nose, Wide nasal bridge, Broad nasal tip	OMIM:239300
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia, Hypogonadotropic hypogonadism	ORPHA:1295
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Intrauterine grow...	OMIM:613026
Trisomy 18	Choanal atresia, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Intrauterine growt...	ORPHA:3380
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec...	OMIM:200600
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Teebi Hypertelorism Syndrome 1	Natal tooth, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hydrocele testis, Short...	OMIM:145420
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Wide anterior fontanel, Scoliosis, Intrauterine growth retardation, Short nose	OMIM:219200
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Kyphosis, Cryptorchidism, Scoliosis, Intrauterine growth retardation, Short nose, Narr...	OMIM:617602
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Short nose, Depressed nasal bridge, Hydrocephalus	ORPHA:1812
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Non-Distal Duplication 13Q	Cryptorchidism, Short nose	ORPHA:1702
Down Syndrome	Depressed nasal bridge, Short neck, Depressed nasal ridge, Decreased fertility, Umbilical hernia,...	ORPHA:870
Autosomal Recessive Omodysplasia	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Peho Syndrome	Short nose, Anteverted nares, Hydrocephalus	ORPHA:2836
Desmosterolosis	Depressed nasal bridge, Abnormality of the nose, Hydrocephalus, Intrauterine growth retardation, ...	ORPHA:35107
Jacobsen Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Hydrocephalus, Holoprosence...	OMIM:147791
16Q24.3 Microdeletion Syndrome	Astigmatism, Thrombocytopenia, Increased mean corpuscular volume	ORPHA:261250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Depressed nasal bridge	OMIM:617802
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella	OMIM:617865
Al-Raqad Syndrome	Short nose	OMIM:616459
Au-Kline Syndrome	Sacral dimple, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal t...	OMIM:616580
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Scoliosis, Short nose, Ab...	ORPHA:90652
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Short neck, Cryptorchidism, Wide nasal bridge, Intrauterine growth retard...	ORPHA:251071
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Kyphosis, Cryptorchidism, Lo...	OMIM:619005
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Malan Syndrome	Advanced eruption of teeth, Short nose, Scoliosis	OMIM:614753
Trisomy 12P	Short nose, Wide nasal bridge, Short neck	ORPHA:1699
Phocomelia, Schinzel Type	Short neck, Cryptorchidism, Meningocele, Aplasia/Hypoplasia of the sacrum, Intrauterine growth re...	ORPHA:2879
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal nostril morphology, Short nose, In...	ORPHA:2315
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Neonatal death, Intrauterine growth retardation, Short ...	OMIM:608013
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Long nose, Hypopla...	ORPHA:508533
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Blue irides	OMIM:101800
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose	ORPHA:2547
Marshall-Smith Syndrome	Short nose, Anteverted nares, Choanal atresia, Scoliosis	ORPHA:561
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Peho Syndrome	Short nose	OMIM:260565
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge, Scoliosis	OMIM:619179
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Hydrocephalus, Short nose	OMIM:605627
Microphthalmia With Limb Anomalies	Sacral dimple, Unilateral cryptorchidism, Depressed nasal bridge, Flared nostrils, Short nose	OMIM:206920
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Short columella, Scoliosis, S...	OMIM:156200
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Platyspondyly, Scoliosis, Intrauterine growth retardation, Short nose	OMIM:612394
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short neck, Bulbous nose, Wide nasal bridge, Scoliosis, Short nose	OMIM:618571
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Umbilical hernia, Short nose	OMIM:222448
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93260
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short nose	OMIM:614261
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Umbilica...	OMIM:616331
Jaberi-Elahi Syndrome	Kyphosis, Short nose, Depressed nasal bridge, Scoliosis	OMIM:617988
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Congenital kyphoscoliosis, Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Kyph...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Short nose	OMIM:616723
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Short nose, Scoliosis	OMIM:615398
Opsismodysplasia	Hypoplastic vertebral bodies, Short nose, Depressed nasal bridge, Abnormally ossified vertebrae	ORPHA:2746
Developmental Delay With Or Without Dysmorphic Facies And Autism	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Bulbous nose, W...	OMIM:618454
Cenani-Lenz Syndrome	Short nose, Scoliosis, Convex nasal ridge, Abnormal form of the vertebral bodies	ORPHA:3258
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae...	OMIM:301040
Marshall-Smith Syndrome	Thoracic scoliosis, Depressed nasal bridge, Anteverted nares, Choanal atresia, Kyphoscoliosis, Bi...	OMIM:602535
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Syringomyelia, Anteverted nares	OMIM:613735
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Scoliosis, Short nose	OMIM:615851
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Wide nose, Lumbar hyperlordosis, Prominent nasal bridge, Short neck, C...	ORPHA:251028
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Bulbous nose, Hydrocephalus, Cry...	ORPHA:95699
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Bulbous nose, Pla...	OMIM:271510
Jacobsen Syndrome	Anteverted nares, Spina bifida, Short neck, Cryptorchidism, Wide nasal bridge, Abnormal form of t...	ORPHA:2308
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Short neck, Bulbous nose, Hydrocephalus, Scoliosis, Sho...	OMIM:115150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Short neck, Wide anterior fontanel, Cryptorchidism, Sho...	OMIM:217980
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Hydrocephalus, Scoliosis, S...	ORPHA:1340
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral colu...	ORPHA:77301
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Short nose	OMIM:602398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Sacral dimple, Anteverted nares, Cryptorchidism, Wide nasal bridge, In...	OMIM:247200
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Anteverted nares, Decreased fertility	OMIM:234050
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Short nose	ORPHA:1394
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis, Narrow naris, Holo...	ORPHA:1449
Warburg Micro Syndrome 3	Short nose, Decreased testicular size, Kyphoscoliosis	OMIM:614222
Cadds	Intrauterine growth retardation, Short nose	ORPHA:369942
Otopalatodigital Syndrome, Type I	Short nose, Multiple impacted teeth, Wide nasal bridge, Scoliosis	OMIM:311300
Prolidase Deficiency	Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:170100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Short nose, Wide nasal bridge, Kyphoscoliosis	OMIM:618005
C Syndrome	Anteverted nares, Cryptorchidism, Wide nasal bridge, Scoliosis, Short nose	OMIM:211750
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections	ORPHA:3078
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose	OMIM:613038
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Broad nasal tip, Prominent ...	ORPHA:177907
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchid...	ORPHA:1465
Weiss-Kruszka Syndrome	Short nose, Anteverted nares	OMIM:618619
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Depressed nasal bridge, Anteverted nares, Thoracolumbar sco...	OMIM:268310
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, Prominent nasolabial fold, Scoliosis, Short no...	ORPHA:2953
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Beaking of vertebral bodies, Depressed nasal bridge, Thoracolumbar scoliosis, Kyphoscoliosis, Sho...	ORPHA:457395
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:616430
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Scoliosis, Short nose	OMIM:300749
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Scoliosis	ORPHA:329178
Lathosterolosis	Anteverted nares, Lumbosacral meningocele, Myelomeningocele, Wide nasal bridge, Short nose, Butte...	OMIM:607330
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Anteverted nares, Block vertebrae, Short neck, Broad nasal tip, Hyperlordosis, ...	OMIM:272460
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Abnorm...	ORPHA:2710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Scoliosis, Broad nasal tip	OMIM:614207
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Intrauterine gr...	ORPHA:364577
Macrocephaly/Autism Syndrome	Hydrocele testis, Short nose, Depressed nasal bridge	OMIM:605309
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor...	OMIM:229400
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae	ORPHA:1234
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Severe intrauterine growth retardation, Intrauterine growth...	OMIM:614114
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Syringomyelia, Anteverted nares, Short nose	ORPHA:357001
Meier-Gorlin Syndrome 6	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Depressed na...	OMIM:616835
Distal Deletion 9P	Short nose, Wide nasal bridge, Short neck	ORPHA:1642
Kleefstra Syndrome	Delayed eruption of teeth, Anteverted nares, Cryptorchidism, Scoliosis, Advanced eruption of teet...	ORPHA:261494
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Prominent nasolabial fold, Intrauterine growth retardation, Sh...	ORPHA:357074
Toluene Embryopathy	Cryptorchidism, Short nose	ORPHA:1920
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Scoliosis, Intrauterine growth retardation, Short nose	ORPHA:1225
Robinow Syndrome, Autosomal Recessive 2	Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip	OMIM:618529
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Scoliosis, Short no...	OMIM:601812
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Kyphosis, Cryptorchidism, Wi...	OMIM:616894
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Eruption failure, Scoliosis, Um...	OMIM:230740
Congenital Disorder Of Glycosylation, Type Iie	Intrauterine growth retardation, Wide nose, Short nose, Short neck	OMIM:608779
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardatio...	OMIM:619321
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Osteoglophonic Dysplasia	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck,...	OMIM:166250
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Short neck, Cryptorchidism, Wide nasal bridge, Intrauterine growth retardation,...	ORPHA:2282
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose	ORPHA:79113
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Wide nose, Sacral dimple, Anteverted nares, Short ...	OMIM:213980
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Intrauterine growth retardat...	OMIM:601358
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	ORPHA:560
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cryptorchidism, Short nose, Abnormal testis morphology, Anteverted nares	ORPHA:96147
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose	OMIM:266810
Robinow Syndrome	Fused thoracic vertebrae, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal t...	ORPHA:97360
Poikiloderma With Neutropenia	Short nose, Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae	OMIM:604173
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Wide nasal bridge, Broad nasal tip	OMIM:614749
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Kyphosis, Short nose, Scoliosis	ORPHA:476126
Microlissencephaly-Micromelia Syndrome	Short nose, Short neck	ORPHA:50810
Trisomy 8P	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Hydrocephalu...	ORPHA:264450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Short nose, Scoliosis	ORPHA:457279
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Hydrocephalus, Lumbar kyphosis, Thoracic kyphosis, Short nose	ORPHA:505248
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Anteverted nares, Choanal atresia	OMIM:610536
Warburg Micro Syndrome 2	Cryptorchidism, Short nose, Prominent nasal bridge	OMIM:614225
Autosomal Recessive Robinow Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Kyphosis, Cryptorchidism, Wi...	ORPHA:1507
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Wide...	OMIM:613457
Aymé-Gripp Syndrome	Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Scoliosis, Short nose	ORPHA:1272
Fontaine Progeroid Syndrome	Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Cryptorchidism, Platyspondyly, Sco...	OMIM:612289
Distal Duplication 5Q	Cryptorchidism, Short nose, Prominent nasal bridge	ORPHA:96097
Stuve-Wiedemann Syndrome 1	Anteverted nares, Ovoid vertebral bodies, Short neck, Scoliosis, Wide nasal base, Short nose, Low...	OMIM:601559
Ogden Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Bifid nasal tip, Wide anterior fontanel, Short...	OMIM:300855
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, Scoliosis	ORPHA:1358
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Congenital kyphoscoliosis, Depressed nasal bridge, Anteverted nares,...	ORPHA:536471
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Scoliosis, Intrauterine growth retardation, Short nose, Narrow...	OMIM:301044
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Vertebral hyperosto...	OMIM:164200
Nablus Mask-Like Facial Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Wide nasal bridge, Short nose	OMIM:608156
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Short neck, Spinal rigidity, Wide nasal bridge, Scoliosis, Short nose	OMIM:620369
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Streak ovary, Kyphoscoliosis, Cryptorchidism, Chordee, Holoprosencepha...	OMIM:618820
Deeah Syndrome	Cervical hemivertebrae, Short neck, Cryptorchidism, Scoliosis, Prominent nasal tip, Short nose, C...	OMIM:619004
Autosomal Dominant Robinow Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, H...	ORPHA:3107
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Platyspondyly, Short nose	OMIM:154780
3Q29 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Six lumbar vertebrae	ORPHA:65286
Craniofacial-Deafness-Hand Syndrome	Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Chops Syndrome	Cervical C2/C3 vertebral fusion, Short nose, Anteverted nares, Cryptorchidism	OMIM:616368
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Sacrococcygeal teratoma, Streak ovary, Kyphoscoliosis, Broad nasal tip...	ORPHA:798
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, B...	OMIM:613458
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cryptorchidism, Short nose, Depressed nasal bridge, Scoliosis	OMIM:601353
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Narrow nasal ridge	OMIM:608612
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short nose	OMIM:244450
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:2719
Trichothiodystrophy 1, Photosensitive	Short nose, Hypogonadism	OMIM:601675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Hydrocele testis, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614080
Alg9-Cdg	Depressed nasal bridge, Underdeveloped nasal alae, Short neck, Wide anterior fontanel, Low insert...	ORPHA:79328
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tethered cord, Scoliosis, Intrauterine growth retardation, Short nose	OMIM:618460
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Tethered cord, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short ne...	OMIM:617157
Trisomy 10P	Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Hemivertebrae, Intrauterine gr...	ORPHA:171929
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Short nose, Scoliosis	ORPHA:109
Sponastrime Dysplasia	Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Lumbar hyperlordo...	ORPHA:93357
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Depressed nasal bridge, Kyphoscoliosis, Cryptorchidism, Hypogonadism, ...	OMIM:268400
Helsmoortel-Van Der Aa Syndrome	Anteverted nares, Hyperlordosis, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Scoliosis, A...	OMIM:615873
Blomstrand Lethal Chondrodysplasia	Natal tooth, Depressed nasal bridge, Anteverted nares, Platyspondyly, Short nose	ORPHA:50945
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Cryptorchidism, Abnormalit...	ORPHA:261112
Wiedemann-Steiner Syndrome	Sacral dimple, Short nose, Wide nasal bridge, Intrauterine growth retardation	ORPHA:319182
Toriello-Carey Syndrome	Short neck, Cryptorchidism, Wide anterior fontanel, Intrauterine growth retardation, Short nose	ORPHA:3338
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Anteverted nares, Kyphosis, Bulbous nose, Hydrocephalus, Wide nasal bridge, Depressed ...	OMIM:619475
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Tethered cord, Anteverted nares, Depressed nasal bridge, Underdeveloped nasa...	OMIM:618332
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Short neck, Spinal cord compression, Wide anterior fontanel, Hypoplasia o...	OMIM:271665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Kyphosis, Cryp...	ORPHA:268261
Acrocallosal Syndrome	Persistence of primary teeth, Wide anterior fontanel, Cryptorchidism, Wide nasal bridge, Umbilica...	OMIM:200990
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Short nose	OMIM:617527
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Short nose	OMIM:227330
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Short nose	ORPHA:521426
Phosphoribosylpyrophosphate Synthetase Superactivity	Cryptorchidism, Short nose, Depressed nasal bridge, Convex nasal ridge	OMIM:300661
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Lumbar hyperlordosis, Scoliosis	ORPHA:522077
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Anteverted nares, Short neck, Cryptorchidism, Wide nasal bridge, Vertebral segm...	ORPHA:373
Witteveen-Kolk Syndrome	Branchial fistula, Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, U...	OMIM:613406
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, P...	OMIM:180700
Zttk Syndrome	Depressed nasal bridge, Kyphosis, Hemivertebrae, Wide nasal bridge, Scoliosis, Intrauterine growt...	OMIM:617140
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Advanced eruption of teeth, Umbilical ...	ORPHA:1519
Bartsocas-Papas Syndrome 1	Short neck, Bilateral cryptorchidism, Underdeveloped nasal alae, Intrauterine growth retardation,...	OMIM:263650
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Tethered cord, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Wide n...	OMIM:619522
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydrocele testis, Short nose, Anteverted nares, Short neck	ORPHA:280633
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Convex nasal ridge	ORPHA:90154
Omodysplasia 1	Depressed nasal bridge, Short neck, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Short nose	OMIM:258315
Orofaciodigital Syndrome Type 4	Wide nose, Monorchism, Choanal atresia, Depressed nasal ridge, Intrauterine growth retardation, S...	ORPHA:2753
Arterial Tortuosity Syndrome	Short nose, Scoliosis	ORPHA:3342
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nare...	OMIM:269150
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Kyphosis, Depressed nasal ridge, Spinal canal stenosis,...	ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Bulbous nose, Scoliosis, Short nose	OMIM:309590
Pallister-Hall Syndrome	Natal tooth, Anteverted nares, Choanal atresia, Cryptorchidism, Depressed nasal ridge, Hemiverteb...	ORPHA:672
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Underdeveloped nasal alae	OMIM:619426
Coffin-Lowry Syndrome	Wide nose, Anteverted nares, Kyphosis, Thick nasal septum, Lumbar kyphosis, Scoliosis, Short nose...	OMIM:303600
Semilobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Scoliosis	ORPHA:220386
Alobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Scoliosis	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Scoliosis	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Neural tube defect, Scoliosis	ORPHA:93924
Noonan Syndrome 3	Cryptorchidism, Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Geleophysic Dysplasia 2	Short nose, Ovoid vertebral bodies	OMIM:614185
Degcags Syndrome	Sacral dimple, Anteverted nares, Prominent nasal bridge, Prominent nose, Cryptorchidism, Rhinitis...	OMIM:619488
Acrocephalopolydactylous Dysplasia	Short nose, Short neck	OMIM:200995
Aspartylglucosaminuria	Beaking of vertebral bodies, Wide nasal bridge, Anterior beaking of lumbar vertebrae, Scoliosis, ...	ORPHA:93
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares	ORPHA:3339
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae	OMIM:305100
Okamoto Syndrome	Tethered cord, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal br...	ORPHA:2729
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Cryptorchidism, Short nose, Wide nasal bridge, Short neck	OMIM:609945
Ayme-Gripp Syndrome	Craniofacial asymmetry, Short nose, Depressed nasal bridge, Wide nasal bridge	OMIM:601088
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Prominent nasal bridge	ORPHA:1974
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Cryptorchidism, Short columella, Scoliosis, Umbilical hernia, Short nose	OMIM:601776
Cornelia De Lange Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck,...	ORPHA:199
Femoral-Facial Syndrome	Underdeveloped nasal alae, Cryptorchidism, Absent vertebra, Hemivertebrae, Scoliosis, Short nose,...	OMIM:134780
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Short nose, Anteverted nares, Abnormal vertebral morphology	ORPHA:444077
Simpson-Golabi-Behmel Syndrome, Type 1	Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Verte...	OMIM:312870
Ctcf-Related Neurodevelopmental Disorder	Sacral dimple, Anteverted nares, Broad nasal tip, Cryptorchidism, Short columella, Short nose	ORPHA:363611
C Syndrome	Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Short nose	ORPHA:1308
Geleophysic Dysplasia 1	Short nose, Anteverted nares	OMIM:231050
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short neck, Broad nasal tip, Wide nasal bridge, Umbilical hernia, Prominent nasal tip, Short nose	OMIM:620330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Depressed nasal bridge, Kyphoscoliosis, Hemivertebrae, Wide nasal bridge, I...	ORPHA:500150
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
Williams-Beuren Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Umbilical hernia, Shor...	OMIM:194050
Penile Agenesis	Atrophy of the spinal cord, Short nose, Depressed nasal bridge, Cryptorchidism	ORPHA:49
Pallister-Killian Syndrome	Delayed eruption of teeth, Sacral dimple, Tethered cord, Depressed nasal bridge, Anteverted nares...	OMIM:601803
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge	OMIM:606721

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 Trpm6

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 Trpm6.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Importance of the renal ion channel TRPM6 in the circadian secretion of renin to raise blood pressure.	Nature communications (June 2021)	Trpm6^{tm1a(KOMP)Wtsi}	PMC8211686
TRPV6, TRPM6 and TRPM7 Do Not Contribute to Hair-Cell Mechanotransduction.	Frontiers in cellular neuroscience (February 2018)	Trpm6^{tm1a(KOMP)Wtsi}	PMC5826258

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Trpm6^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Trpm6^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Trpm6^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Trpm6^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trpm6 MGI:2675603

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Trpm6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data