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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
abnormal eye anterior chamber depth	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	2.89×10^-05
decreased mean corpuscular volume	Trpm6^{tm1b(KOMP)Wtsi}	HET	Early adult	9.67×10^-06
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

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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 (663 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	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Vertebral segmentation defe...	ORPHA:1797
Spondylosis, Cervical	Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis	OMIM:184300
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Narrow nasal bridge, Short nose	ORPHA:1514
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Depressed nasal bridge, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Sprengel Deformity	Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae	OMIM:184400
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Spina bifida	ORPHA:64754
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5	OMIM:102510
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Short neck, Spina bifida occulta, Kyphosis, Short nose	ORPHA:2983
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Intrauterine growth retardation, Prominent nose	OMIM:101805
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Abnormal form of the vertebral bodies, Umbilical hernia, Intrauterine gro...	ORPHA:2311
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Isotretinoin Syndrome	Spina bifida occulta, Depressed nasal bridge, Sacral dimple	ORPHA:2305
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Three M Syndrome 1	Depressed nasal bridge, Intrauterine growth retardation, Increased vertebral height, Anteverted n...	OMIM:273750
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	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	Cataract, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology	ORPHA:2611
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d...	OMIM:613686
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Spinocerebellar Ataxia-Dysmorphism Syndrome	Spina bifida occulta, Anteverted nares, Short nose	ORPHA:1185
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	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	Abnormal vertebral morphology, Anteverted nares, Short nose, Short neck	ORPHA:2015
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Acrofacial Dysostosis, Palagonia Type	Abnormal form of the vertebral bodies, Bulbous nose, Short neck, Spina bifida occulta, Scoliosis	ORPHA:1787
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Anteverted nares, Spondylolisthesis, Short nose	OMIM:617877
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Scoliosis	ORPHA:177
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Scoliosis	OMIM:618736
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Myelomeningocele, Intrauterine growth retardation, Antev...	ORPHA:1914
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Acrocraniofacial Dysostosis	Choanal atresia, Abnormal form of the vertebral bodies, Anteverted nares, Prominent nasal bridge,...	ORPHA:949
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:3219
White Forelock With Malformations	Spina bifida occulta	ORPHA:2475
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Bulbous nose, Intrauterine growth retardation, Prominent nasal bridge, Spina b...	OMIM:617360
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Craniosynostosis 6	Spina bifida occulta, Scoliosis	OMIM:616602
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta	ORPHA:230839
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Underdeveloped nasal alae, Kyphoscoliosis, Short neck, Spina bifida occulta, S...	OMIM:193700
Czeizel-Losonci Syndrome	Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida, Spina bifida occulta	ORPHA:2437
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Spina bifida occulta	OMIM:618060
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Intrauterine growth retardation, Short nose	ORPHA:1786
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple	OMIM:618291
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Alagille Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral segmentation de...	ORPHA:52
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter...	ORPHA:1578
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Patchy distortion of vertebrae, Vertebral clefting, Shor...	OMIM:155050
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Choanal atresia, Butterfly vertebrae, Wide nose, Spina bifida occulta, Fused cervical vertebrae	OMIM:619227
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Lumbar hyperlordosis, Back pain	OMIM:169550
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Delayed eruption of teeth, Hyperlordosis, Spina bifida occulta, Scoliosis	ORPHA:2780
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Intrauterine growth retardation, Anteverted nares, Short neck, Short nose	ORPHA:1832
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta	OMIM:268850
Distal Deletion 10Q	Wide nasal bridge, Prominent nose, Prominent nasal bridge, Lumbar hyperlordosis, Spina bifida occ...	ORPHA:96148
Carpenter Syndrome 1	Depressed nasal bridge, Umbilical hernia, Persistence of primary teeth, Short neck, Spina bifida ...	OMIM:201000
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Rhiny	Anteverted nares, Short nose	OMIM:180360
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
17Q21.31 Microduplication Syndrome	Anteverted nares, Short nose	ORPHA:217340
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Scoliosis, Abnormal form of the vertebral bodies, Short nose	ORPHA:2370
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Joubert Syndrome 15	Exencephaly	OMIM:614464
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Cystinosis	Hypokalemia, Hypophosphatemia, Corneal opacity	ORPHA:213
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Intrauterine growth retardation, Decreased fertility, Spina bifida occulta, Sc...	ORPHA:500
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia, Anemia	OMIM:127000
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Progressive congenital scoliosis, Abn...	ORPHA:2369
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Short columella, Patchy distortion of vertebrae, V...	ORPHA:1248
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Abnormal circulating calcium concentration, Hypomagnesemia	OMIM:248190
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Hypogonadotropic hypogonadism, Short nos...	OMIM:301030
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Autosomal Recessive Multiple Pterygium Syndrome	Umbilical hernia, Hypogonadism, Intrauterine growth retardation, Vertebral segmentation defect, S...	ORPHA:2990
3Mc Syndrome	Caudal appendage, Umbilical hernia, Prominent coccyx, Abnormal nasal morphology, Hyperlordosis, S...	ORPHA:293843
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Scoliosis, Short nose	OMIM:618379
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Non-Distal Duplication 10Q	Depressed nasal bridge, Scoliosis, Convex nasal ridge, Short nose	ORPHA:1695
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Umbilical hernia, Spina bif...	OMIM:235510
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Cleidocranial Dysplasia	Depressed nasal bridge, Delayed eruption of teeth, Spina bifida occulta, Abnormal sacrum morpholo...	ORPHA:1452
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
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
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Large for gestational age, Hypophosphatemia	OMIM:616026
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Anteverted nares, Hydrocephalus, Scoliosis, Short nose	OMIM:618577
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Abnormal form of the vertebral bodies, Sacral dimple, Intrauterine growth...	ORPHA:1327
Larsen Syndrome	Depressed nasal bridge, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Intraut...	OMIM:150250
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Depressed nasal bridge, Broad nasal tip, Narrow nose, Intrauterine growth retardation, Spina bifi...	OMIM:300707
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab...	ORPHA:37042
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c...	ORPHA:79102
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose	ORPHA:1450
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Intellectual Developmental Disorder, X-Linked 91	Short nose	OMIM:300577
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose	ORPHA:46
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz...	ORPHA:36913
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Dubowitz Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Intrauterine growth retardation, Hydrocephalus...	ORPHA:235
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia	OMIM:612462
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Broad nasal tip, Broad columella, Depressed nasal tip, Short neck, Spina bifida ...	ORPHA:488434
Duane-Radial Ray Syndrome	Choanal atresia, Abnormal nasopharynx morphology, Choanal stenosis, Spina bifida occulta, Scolios...	OMIM:607323
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi...	OMIM:307800
Meckel Syndrome, Type 8	Depressed nasal ridge, Occipital encephalocele, Encephalocele, Short neck, Short nose	OMIM:613885
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Branchial cyst, Intrauterine growth retardation, Anteverted n...	OMIM:615583
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Weiss-Kruszka Syndrome	Prominent nasal tip, Short nose	ORPHA:502430
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose	OMIM:300558
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Depressed nasal ridge, Intrauterine growth retardation, Hydrocephalus, Short nose	OMIM:300863
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz...	ORPHA:289157
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Lenz-Majewski Hyperostotic Dwarfism	Choanal atresia, Intrauterine growth retardation, Chordee, Choanal stenosis, Hemivertebrae, Spina...	OMIM:151050
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Depressed nasal bridge, Abnormality of the vertebral column, Hypogonadism, Short nasal s...	OMIM:302950
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Short nose	OMIM:613670
Acrocephalopolydactyly	Depressed nasal ridge, Short neck, Short nose	ORPHA:221054
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract	OMIM:104200
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce...	ORPHA:411634
Duane Retraction Syndrome	Wide nasal bridge, Abnormal form of the vertebral bodies, Anteverted nares, Short neck, Spina bif...	ORPHA:233
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Umbilical hernia, Anteverted nares, Short columella, Hydrocephalus, Short...	ORPHA:171839
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Occipital encephalocele, Hydrocephalus, Short nose	OMIM:241800
Osteopathia Striata With Cranial Sclerosis	Wide nasal bridge, Thoracolumbar kyphosis, Natal tooth, Hydrocephalus, Spina bifida occulta, Scol...	OMIM:300373
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose	ORPHA:438178
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Baker-Gordon Syndrome	Prominent nasal tip, Scoliosis, Short nose	OMIM:618218
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose, Ovoid vertebral bodies	ORPHA:969
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia, Cataract	ORPHA:469
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis, Short nose	ORPHA:2429
Pseudohypoparathyroidism Type 1B	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz...	ORPHA:94089
Leopard Syndrome 1	Depressed nasal ridge, Delayed menarche, Kyphoscoliosis, Short neck, Hypoplasia of the ovary, Spi...	OMIM:151100
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Obesity, Hyperphosphatemia, Cataract	OMIM:103580
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Short neck, Short nose, Sacral dimple	OMIM:613544
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Edinburgh Malformation Syndrome	Choanal atresia, Anteverted nares, Hydrocephalus, Short nose	ORPHA:1895
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Encephalocele, D...	ORPHA:1791
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Abnormal intervertebral disk morphology, Hydrocephalus, Short nose	ORPHA:2701
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatemia, Abnormal blood ion c...	ORPHA:411629
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
17P13.3 Microduplication Syndrome	Short neck, Short nose, Wide nose	ORPHA:217385
Pearson Syndrome	Cataract, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia,...	ORPHA:699
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Antever...	OMIM:619859
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Thoracic platyspondyly, Anteverted nares, Increased intervertebral space,...	OMIM:618961
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Depressed nasal ridge, Intrauterine growth retardation, Hydrocephalus, Short nose	ORPHA:163966
Pierpont Syndrome	Broad nasal tip, Short neck, Scoliosis, Short nose, Wide nose	OMIM:602342
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Short nose	ORPHA:261120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Intrauterine growth retardation, Scoliosis, Short nose	OMIM:615419
Zimmermann-Laband Syndrome 1	Wide nasal bridge, Broad nasal tip, Delayed eruption of teeth, Umbilical hernia, Spina bifida occ...	OMIM:135500
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis, Short nose	ORPHA:2598
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Incontinentia Pigmenti	Spina bifida occulta, Scoliosis, Delayed eruption of teeth, Umbilical hernia	ORPHA:464
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale...	OMIM:219800
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Peho-Like Syndrome	Short nose	OMIM:617507
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Short nose	OMIM:601224
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Short nose	ORPHA:531
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Intrauterine growth retardation, Short nose	ORPHA:1495
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Delayed eruption of permanent teeth, Short nose	OMIM:618506
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Neonatal death, Short nose	OMIM:610015
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Diamond-Blackfan Anemia 1	Depressed nasal ridge, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Intrauterine gr...	OMIM:105650
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Spina bifida, Meningocele, Scoliosis, Short nose	ORPHA:894
Knobloch Syndrome 1	Depressed nasal bridge, Occipital encephalocele, Bulbous nose, Spina bifida occulta, Occipital me...	OMIM:267750
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Short nose	ORPHA:1529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Intrauterine growth retardation, Short nose	OMIM:616910
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Low hanging columella, Short nose	OMIM:617752
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Short nose	OMIM:613604
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Short neck, Vertebral clefting, Coronal cleft vertebrae, ...	OMIM:616854
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I...	OMIM:241200
Frontometaphyseal Dysplasia	Wide nasal bridge, Spina bifida occulta, Scoliosis, Fused cervical vertebrae	ORPHA:1826
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Short nose, Wide anterior fon...	OMIM:619736
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Hydrocephalus, Short nose	ORPHA:163961
Rubinstein-Taybi Syndrome 1	Wide nasal bridge, Recurrent upper respiratory tract infections, Prominent nose, Short columella,...	OMIM:180849
3Mc Syndrome 1	Spina bifida occulta, Caudal appendage, Wide anterior fontanel, Sacral dimple	OMIM:257920
Achondrogenesis	Anteverted nares, Umbilical hernia, Short nose, Short neck	ORPHA:932
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Encephalocele, Exencephaly, Sacral dimple	ORPHA:2211
Codas Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Antever...	ORPHA:1458
Microform Holoprosencephaly	Choanal atresia, Intrauterine growth retardation, Narrow nasal bridge, Anteverted nares, Midnasal...	ORPHA:280200
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Abnormal form of the vertebral bodies, Hyperlordosis, Short nose, Wide nose	ORPHA:2831
Baller-Gerold Syndrome	Abnormal vertebral morphology, Underdeveloped nasal alae, Prominent nasal bridge, Choanal stenosi...	OMIM:218600
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Spinal canal stenosis,...	OMIM:614613
Dent Disease 1	Hypophosphatemia	OMIM:300009
Fetal Trimethadione Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Scoliosis, Short nose	ORPHA:1913
Peters Plus Syndrome	Depressed nasal bridge, Umbilical hernia, Sacral dimple, Intrauterine growth retardation, Antever...	ORPHA:709
Odontochondrodysplasia	Platyspondyly, Depressed nasal bridge, Delayed eruption of teeth, Scoliosis, Short nose	ORPHA:166272
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Broad nasal tip, Hypoplastic cervical vertebrae, Cervical kyphosis, Cervic...	ORPHA:79345
Achondrogenesis Type 1B	Anteverted nares, Umbilical hernia, Short nose, Short neck	ORPHA:93298
Trigonocephaly 1	Wide nasal bridge, Lumbar hemivertebrae, Short nose	OMIM:190440
Distal Duplication 18Q	Progressive intervertebral space narrowing, Choanal atresia, Anteverted nares, Prominent nasal br...	ORPHA:1716
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc...	ORPHA:2169
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Depressed nasal bridge, Anisospondyly, Anteverted nares, Short neck, Short nose, W...	ORPHA:163649
8Q24.3 Microdeletion Syndrome	Wide nasal bridge, Broad nasal tip, Branchial cyst, Intrauterine growth retardation, Anteverted n...	ORPHA:508488
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Short nose, Meningocele	ORPHA:2031
Achondrogenesis Type 1A	Anteverted nares, Umbilical hernia, Short nose, Short neck	ORPHA:93299
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Hyponatremia, Hypokalemia, Anemia, Hypophosphat...	ORPHA:534
Chung-Jansen Syndrome	Anteverted nares, Short nose	OMIM:617991
Schneckenbecken Dysplasia	Platyspondyly, Stillbirth, Umbilical hernia, Narrow vertebral interpedicular distance, Short neck...	OMIM:269250
Camptodactyly Syndrome, Guadalajara, Type Iii	Spina bifida occulta, Short neck	OMIM:611929
Blepharocheilodontic Syndrome 1	Choanal atresia, Neural tube defect	OMIM:119580
Perlman Syndrome	Wide nasal bridge, Anteverted nares, Short nose	ORPHA:2849
Poland Syndrome	Encephalocele, Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Sc...	ORPHA:2911
Doors Syndrome	Wide nasal base, Wide nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Sirenomelia,...	ORPHA:79500
Lowry-Maclean Syndrome	Choanal atresia, Intrauterine growth retardation, Delayed eruption of primary teeth, Hydrocephalu...	ORPHA:2409
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Intrauterine growth retardation, Hydrocephalus, Scoliosis, Short nose	OMIM:619833
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Focal Dermal Hypoplasia	Broad nasal tip, Delayed eruption of teeth, Umbilical hernia, Myelomeningocele, Narrow nasal brid...	OMIM:305600
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis	OMIM:211900
Coffin-Siris Syndrome 1	Depressed nasal bridge, Choanal atresia, Broad nasal tip, Delayed eruption of teeth, Umbilical he...	OMIM:135900
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Short nose	ORPHA:90653
Sanjad-Sakati Syndrome	Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity	ORPHA:2323
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Acrodysostosis	Irregular menstruation, Depressed nasal ridge, Wide nasal bridge, Depressed nasal bridge, Delayed...	ORPHA:950
Dermotrichic Syndrome	Abnormal vertebral morphology, Depressed nasal bridge, Short nose	ORPHA:99688
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
Donnai-Barrow Syndrome	Depressed nasal bridge, Wide anterior fontanel, Short nose, Umbilical hernia	ORPHA:2143
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Short nose, Sacral dimple	OMIM:618828
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Convex nasal ridge, Short nose	ORPHA:2145
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Pterygium Colli, Isolated	Short nose	OMIM:177990
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbous nose, Short neck, Short nose	ORPHA:369891
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose	OMIM:618774
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Intrauterine growth retardation, Anteverted nares, Kyphoscoliosis, Short neck, Scoliosis, Short n...	ORPHA:391408
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Intrauterine growth retardation, Prominent nasal bridge, Short neck, S...	ORPHA:2083
Congenital Disorder Of Glycosylation, Type Iu	Scoliosis, Short nose	OMIM:615042
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Dysplastic sacrum, Anteverted nares, Short neck, Severe platyspondyly, Sh...	OMIM:613320
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Convex nasal ridge, Sco...	ORPHA:3121
Popliteal Pterygium Syndrome	Spina bifida occulta	OMIM:119500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Intrauterine growth retardation, Short nose	OMIM:614732
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Unossified sacrum, Intrauterine growth retardation...	OMIM:608022
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Intrauterine growth...	OMIM:615866
Desbuquois Dysplasia 1	Platyspondyly, Depressed nasal bridge, Intrauterine growth retardation, Short neck, Hyperlordosis...	OMIM:251450
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Choanal stenosis, Hydrocephalus, Short nose	OMIM:101600
Raine Syndrome	Hypophosphatemia	OMIM:259775
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Scoliosis, Short nose	OMIM:618316
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Narrow nasal bridge, Anteverted nares, Low hanging columella,...	OMIM:619383
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Alobar holoprosencephaly, Semilobar holoprosencephal...	OMIM:610828
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Prominent nasolabial fold, Short nose	ORPHA:391372
Harel-Yoon Syndrome	Scoliosis, Short nose	OMIM:617183
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Oculoauricular Syndrome	Spina bifida occulta	OMIM:612109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Platyspondyly, Intrauterine growth retardation, Anteverted nares, Short neck, ...	OMIM:616897
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Short neck, Hydrocephalus, Hemivertebrae, Scoliosis, K...	ORPHA:7
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Short nose	OMIM:615716
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short nose, Intervertebral space narrowing	OMIM:614078
Pseudohypoparathyroidism Type 1C	Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, Conjunctivit...	ORPHA:79444
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Delayed eruption of permanent teeth, Short nose	OMIM:619356
Tetrasomy 12P	Anteverted nares, Delayed eruption of teeth, Short nose, Short neck	ORPHA:884
Williams Syndrome	Wide nasal bridge, Abnormal form of the vertebral bodies, Umbilical hernia, Vertebral segmentatio...	ORPHA:904
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Dent Disease	Renal hypophosphatemia, Cataract, Elevated circulating creatine kinase concentration	ORPHA:1652
Autosomal Recessive Malignant Osteopetrosis	Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia	ORPHA:667
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Developmental cataract, Anemia, Hypocalcemic seizures	ORPHA:93325
Atelosteogenesis, Type I	Depressed nasal bridge, Thoracic platyspondyly, Vertebral hypoplasia, Encephalocele, Neonatal dea...	OMIM:108720
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Prominent nose, Prominent nasal tip, Cau...	ORPHA:439822
Tetrasomy 5P	Wide nasal bridge, Anteverted nares, Short neck, Hydrocephalus, Short nose, Wide anterior fontanel	ORPHA:3309
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Anteverted nares, Vertebral clefting, Hemivertebrae, Lobar holoprosencephaly, ...	OMIM:614701
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Periventricular Nodular Heterotopia 7	Anteverted nares, Short nose	OMIM:617201
Fibrochondrogenesis 2	Platyspondyly, Anteverted nares, Short nose	OMIM:614524
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As...	OMIM:617052
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Scoliosis, Short nose	OMIM:218000
Tetrasomy 18P	Scoliosis, Short nose	ORPHA:3307
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Anteverted nares, Vertebr...	ORPHA:261318
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Short nose	OMIM:618437
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Spina bifida occulta	ORPHA:500095
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose	ORPHA:284169
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Bulbous nose, Scoliosis, Short nose	OMIM:618430
Isolated Posterior Meningocele	Hydromyelia, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital ...	ORPHA:268810
9q subtelomeric deletion syndrome	Anteverted nares, Short nose	DECIPHER:52
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Anteverted nare...	ORPHA:819
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Under...	OMIM:616007
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aqueductal stenosis, Short nose	ORPHA:93258
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Bulbous nose, Anteverted nares, Short nose	OMIM:614105
Smith-Kingsmore Syndrome	Depressed nasal bridge, Wide anterior fontanel, Short nose, Umbilical hernia	OMIM:616638
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:401935
Femoral-Facial Syndrome	Abnormal sacrum morphology, Scoliosis, Short nose, Vertebral segmentation defect	ORPHA:1988
Fibrochondrogenesis 1	Platyspondyly, Depressed nasal bridge, Anteverted nares, Short neck, Stillbirth, Posterior verteb...	OMIM:228520
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Scoliosis, Kyphosis, Short nose	OMIM:617061
Alg3-Cdg	Abnormality of the nose, Neural tube defect	ORPHA:79321
Lathosterolosis	Bulbous nose, Intrauterine growth retardation, Abnormal thoracic spine morphology, Anteverted nar...	ORPHA:46059
Pseudohypoparathyroidism Type 1A	Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcin...	ORPHA:79443
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Hydrocephalus, Aqueductal stenosis, Short nose	ORPHA:93259
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose	OMIM:300887
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Scoliosis, Short nose	ORPHA:544503
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Short nose	ORPHA:210548
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Hydrocephalus, Long nose, Scoliosis, Short nose	OMIM:618590
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Scoliosis, Kyphosis, Short nose	ORPHA:261144
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Fetal Alcohol Syndrome	Intrauterine growth retardation, Anteverted nares, Short nose, Vertebral segmentation defect	ORPHA:1915
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Intrauteri...	OMIM:615485
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Prominent nose, Narrow nasal ridge, Shor...	ORPHA:363528
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Short nose	OMIM:617822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen...	ORPHA:811
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Aarskog-Scott Syndrome	Wide nasal bridge, Cervical spine hypermobility, Hypoplasia of the odontoid process, Anteverted n...	OMIM:305400
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Baraitser-Winter Syndrome 1	Wide nasal bridge, Anteverted nares, Short nose, Short neck	OMIM:243310
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Short neck, Scoliosis, Short nose, Thoracic kyphosis	OMIM:620250
16P11.2P12.2 Microdeletion Syndrome	Bulbous nose, Intrauterine growth retardation, Anteverted nares, Absent nasal bridge, Long nose, ...	ORPHA:261211
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Anteverted nares, Short nose	OMIM:616420
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Kyphoscoliosis, Syringomyelia, Short ...	OMIM:615803
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Tethered cord, Hydromyelia, Myelomeningocele, Myeloschisis, Back pain, Hyd...	OMIM:600145
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Rhombencephalosynapsis	Anteverted nares, Hydrocephalus, Short nose	ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Hydrocephalus, Short nose	OMIM:239300
16P12.1P12.3 Triplication Syndrome	Bulbous nose, Intrauterine growth retardation, Short nose	ORPHA:485405
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Kyphosis, Short nose	OMIM:608776
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:249620
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Sacral dimple, Anteverted nares, Severe intrauterine g...	ORPHA:363659
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Wide anterior fontanel, Short nose	OMIM:601853
Cutis Laxa, Autosomal Recessive, Type Iia	Intrauterine growth retardation, Anteverted nares, Short nose, Scoliosis, Wide anterior fontanel	OMIM:219200
Micro Syndrome	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Scoliosis, Kyphosis, Short ...	ORPHA:2510
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Unossified vertebral bodies, Hypoplastic sacrum...	OMIM:200600
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Short neck, Hydrocepha...	OMIM:257300
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal bridge, Natal tooth, Intrauterine growth retardation, Anteverted...	OMIM:146510
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Fetal Hydantoin Syndrome	Depressed nasal ridge, Intrauterine growth retardation, Short nose	ORPHA:1912
Peho Syndrome	Anteverted nares, Hydrocephalus, Short nose	ORPHA:2836
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Desmosterolosis	Depressed nasal bridge, Abnormality of the nose, Intrauterine growth retardation, Hydrocephalus, ...	ORPHA:35107
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Holoprosencephaly, Short nose	ORPHA:261236
Al-Raqad Syndrome	Short nose	OMIM:616459
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Scoliosis, Short nose	ORPHA:496790
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Advanced eruption of teeth, Broad columella, Short nose	OMIM:617865
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Natal tooth, Short nose	OMIM:617802
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Trisomy 18	Choanal atresia, Intrauterine growth retardation, Spina bifida, Holoprosencephaly, Anencephaly, S...	ORPHA:3380
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Astigmatism, Thrombocytopenia	ORPHA:261250
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Myelomeningocele, Encephalocele, Hydrocephalus, Scoliosis, Short nose, Ab...	ORPHA:90652
Malan Syndrome	Advanced eruption of teeth, Scoliosis, Short nose	OMIM:614753
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Anteverted nares, ...	OMIM:613026
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Short columella, Hydrocephalus, Short nose, Sacral dimple	OMIM:613603
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose	OMIM:615539
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Natal tooth, Anteverted nares, Short nose	OMIM:145420
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow nose, Intrauterine growth retardation, Long nose, Scoliosis, Kyphosis, Short nose	OMIM:617602
Trisomy 12P	Wide nasal bridge, Short neck, Short nose	ORPHA:1699
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Intrauterine growth retardation, Abnormal n...	ORPHA:2315
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hydrocephalus, Short nose	ORPHA:1812
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Depressed nasal bridge, Hypoplasia of the odontoid process, Cervical spin...	ORPHA:508533
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Neonatal death, Short ...	OMIM:608013
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Bulbous nose, Prominent nose, Short columella, Hemivertebrae, Scoliosis, S...	OMIM:156200
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose	ORPHA:2547
Marshall-Smith Syndrome	Choanal atresia, Anteverted nares, Scoliosis, Short nose	ORPHA:561
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Blue irides	OMIM:101800
Jacobsen Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Anteverted nares, Short neck, Hydrocepha...	OMIM:147791
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Au-Kline Syndrome	Bifid nasal tip, Underdeveloped nasal alae, Sacral dimple, Prominent nasal bridge, Wide nasal rid...	OMIM:616580
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Prominent nasal bridge, Scoliosis, Short nose	OMIM:619179
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Short nose	ORPHA:93260
Cerebrooculonasal Syndrome	Proboscis, Anteverted nares, Prominent nasal bridge, Encephalocele, Hydrocephalus, Short nose	OMIM:605627
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Bulbous nose, Short neck, Scoliosis, Short nose	OMIM:618571
Bcard Syndrome	Platyspondyly, Intrauterine growth retardation, Anteverted nares, Scoliosis, Short nose	OMIM:612394
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Short nose, Wide anterior fontanel	OMIM:222448
Peho Syndrome	Short nose	OMIM:260565
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Anteverted na...	OMIM:619005
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Short nose	ORPHA:93328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Depressed nasal bridge, Atlantoaxial dislocation, Congenital kyphoscoliosis, Antev...	ORPHA:536467
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose	OMIM:614261
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Intrauterine growth retardation, Prominent nasal bridge, Short neck, Short nose	ORPHA:251071
Non-Distal Duplication 13Q	Short nose	ORPHA:1702
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:93329
Jaberi-Elahi Syndrome	Depressed nasal bridge, Scoliosis, Kyphosis, Short nose	OMIM:617988
Prolidase Deficiency	Concave nasal ridge, Depressed nasal bridge, Short nose	OMIM:170100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Scoliosis, Short nose	OMIM:615398
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Depressed nasal bridge, Short neck, Thoracolumbar scoliosis, Scoliosis, Short nose	OMIM:616723
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Brain Malformations With Or Without Urinary Tract Defects	Syringomyelia, Anteverted nares, Short nose	OMIM:613735
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Choanal atresia, Depressed nasal bridge, Stillbirth, Bulbous nose,...	ORPHA:95699
Opsismodysplasia	Hypoplastic vertebral bodies, Depressed nasal bridge, Abnormally ossified vertebrae, Short nose	ORPHA:2746
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Depressed nasal bridge, Bulbous nose, Anteverted nares, Lumbar hyperlordosis, Bico...	OMIM:271510
Robinow Syndrome, Autosomal Dominant 2	Depressed nasal bridge, Umbilical hernia, Anteverted nares, Kyphoscoliosis, Short nose, Sacral di...	OMIM:616331
Pontocerebellar Hypoplasia, Type 2E	Scoliosis, Short nose, Wide nose	OMIM:615851
Cenani-Lenz Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Convex nasal ridge, Short nose	ORPHA:3258
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose	OMIM:618087
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, Intrauterine growth retardation, Short neck, Meningocele, Short...	ORPHA:2879
Cerebrofaciothoracic Dysplasia	Vertebral segmentation defect, Short neck, Hemivertebrae, Scoliosis, Short nose, Wide nose	ORPHA:1394
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Hydrocephalus, Short nose	OMIM:602398
Monosomy 9Q22.3	Abnormality of the vertebral column, Delayed eruption of teeth, Umbilical hernia, Short neck, Hyd...	ORPHA:77301
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Bulbous nose, Anteverted nares, Short neck, Hydrocephalus, Scoliosis, Sho...	OMIM:115150
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Decreased fertility, Short nose	OMIM:234050
Marshall-Smith Syndrome	Choanal atresia, Recurrent upper respiratory tract infections, Depressed nasal bridge, Hypoplasia...	OMIM:602535
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Sacral dimple, Short nose	OMIM:206920
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Concave nasal ridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613038
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbous nose, Narrow nose, Anteverte...	OMIM:618454
Cadds	Intrauterine growth retardation, Short nose	ORPHA:369942
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Prader-Willi Syndrome Due To Translocation	Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Prominent nose, Underdevelope...	ORPHA:177907
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Scoliosis, Multiple impacted teeth, Short nose	OMIM:311300
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Short nose	ORPHA:3078
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Intrauterine growth retardation, Short nose, Kyphoscoliosis	OMIM:618005
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:618529
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Umbilical hernia, Anteverted nares, Kyphoscoliosis, Hemivertebrae, Scolio...	OMIM:301040
Ring Chromosome 7 Syndrome	Wide nasal bridge, Narrow naris, Hypogonadism, Anteverted nares, Prominent nasal bridge, Lumbar k...	ORPHA:1449
Jacobsen Syndrome	Wide nasal bridge, Broad columella, Abnormal form of the vertebral bodies, Intrauterine growth re...	ORPHA:2308
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Hydrocephalus, Scoliosis, Short nose	ORPHA:1340
Weiss-Kruszka Syndrome	Anteverted nares, Short nose	OMIM:618619
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Long...	OMIM:300912
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:616430
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Platyspondyly, Depressed nasal bridge, Thoracic platyspondyly, Kyphoscoliosis, Short neck, Beakin...	ORPHA:457395
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Hypoplasia of the odontoid process, Broad nasal tip, Failure of eruption of perm...	OMIM:272460
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lumbar hyperlordosis, Prominent nasal bridge, Short neck, Convex nasal ridge, Short nose, Wide nose	ORPHA:251028
Frontofacionasal Dysplasia	Cranium bifidum occultum, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Shor...	OMIM:229400
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Prominent nasal bridge, Scoliosis, Short nose	OMIM:300749
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Prominent nasolabial fold, Sh...	ORPHA:357074
Holoprosencephaly 9	Depressed nasal bridge, Choanal atresia, Broad nasal tip, Alobar holoprosencephaly, Short neck, H...	OMIM:610829
Oculodentodigital Dysplasia	Broad columella, Underdeveloped nasal alae, Abnormality of the nose, Abnormal form of the vertebr...	ORPHA:2710
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Short nose	ORPHA:1234
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Scoliosis, Short nose	ORPHA:329178
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Underdeveloped nasal alae, Bulbous nose, Intrauterine growth retardation, Prominent nasal bridge,...	ORPHA:364577
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Scoliosis, Short nose	OMIM:614207
Distal Deletion 9P	Wide nasal bridge, Short neck, Short nose	ORPHA:1642
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Delayed eruption of teeth, Sacral dimple, Intrauterine growth retardation, Ant...	OMIM:247200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Short neck, Short nose, Wide anterior fontanel	OMIM:217980
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Intrauterine growth retardation, Severe intrauterine growth...	OMIM:614114
19P13.13 Microdeletion Syndrome	Syringomyelia, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:357001
Acromesomelic Dysplasia 1	Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Ovoid ver...	OMIM:602875
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Narrow nose, Prominent nasal bridge, Aplasia of the nasal bone, Convex...	OMIM:601812
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Baller-Gerold Syndrome	Intrauterine growth retardation, Prominent nasal bridge, Narrow nasal bridge, Scoliosis, Short nose	ORPHA:1225
Warburg Micro Syndrome 3	Short nose, Kyphoscoliosis	OMIM:614222
Stuve-Wiedemann Syndrome 1	Wide nasal base, Intrauterine growth retardation, Anteverted nares, Ovoid vertebral bodies, Short...	OMIM:601559
C Syndrome	Wide nasal bridge, Anteverted nares, Scoliosis, Short nose	OMIM:211750
Mietens Syndrome	Wide nasal bridge, Short nose, Wide nose	ORPHA:2557
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Cervical kyphosis, Kyphoscoliosis, Abnormality of the cervical spine, S...	ORPHA:2953
Antley-Bixler Syndrome	Choanal atresia, Anteverted nares, Short nose	ORPHA:83
Congenital Disorder Of Glycosylation, Type Iie	Short neck, Intrauterine growth retardation, Short nose, Wide nose	OMIM:608779
Gapo Syndrome	Depressed nasal bridge, Eruption failure, Umbilical hernia, Anteverted nares, Scoliosis, Wide ant...	OMIM:230740
Adenylosuccinase Deficiency	Anteverted nares, Short nose	OMIM:103050
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Sacral dimple, Anteverted nares, Recurrent sinusitis, Short neck, Beaking of v...	OMIM:213980
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Atlantoaxial dislocation, Umbilical hernia, Decrea...	ORPHA:870
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose	ORPHA:79113
Osteoglophonic Dysplasia	Platyspondyly, Choanal atresia, Depressed nasal bridge, Delayed eruption of teeth, Eruption failu...	OMIM:166250
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:314655
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:560
Kleefstra Syndrome	Delayed eruption of teeth, Anteverted nares, Advanced eruption of teeth, Scoliosis, Short nose	ORPHA:261494
Poikiloderma With Neutropenia	Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae, Short nose	OMIM:604173
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Hypoplasia of the ovary, Hydrocephalus, Convex nasal ridge, Shor...	OMIM:619321
Meier-Gorlin Syndrome 6	Depressed nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Umbilical hernia, Antev...	OMIM:616835
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Short nose	OMIM:614749
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Nicolaides-Baraitser Syndrome	Wide nasal base, Umbilical hernia, Bulbous nose, Intrauterine growth retardation, Narrow nasal br...	OMIM:601358
Lathosterolosis	Anteverted nares, Butterfly vertebrae, Prominent nasal tip, Lumbosacral meningocele, Short nose	OMIM:607330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Lumbar kyphosis, Short neck, Hydrocephalus, Short nose, Thoracic kyphosis	ORPHA:505248
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Short nose	OMIM:610536
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Robinow Syndrome, Autosomal Dominant 3	Wide nasal bridge, Depressed nasal bridge, Sacral dimple, Anteverted nares, Short neck, Scoliosis...	OMIM:616894
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Scoliosis, Eruption failure, Short nose	ORPHA:476126
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Choanal stenosis, Short nose	ORPHA:1790
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Scoliosis, Wide anterior fontanel, Short nose	ORPHA:457279
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Short nose	OMIM:605309
Microlissencephaly-Micromelia Syndrome	Short neck, Short nose	ORPHA:50810
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Low hanging colume...	OMIM:164200
Robinow Syndrome	Flared nostrils, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Persistence of primar...	ORPHA:97360
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Thoracic scoliosis, Short neck, Scoliosis, Short nose, Spinal rigidity	OMIM:620369
Robinow Syndrome, Autosomal Recessive 1	Wide nasal bridge, Depressed nasal bridge, Hypoplastic sacrum, Umbilical hernia, Sacral dimple, T...	OMIM:268310
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Semilobar holoprosencephaly, Narrow nose, Intrauterine growth retardation, Antev...	OMIM:301044
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Short neck, Short nose	ORPHA:2282
Carey-Fineman-Ziter Syndrome	Anteverted nares, Scoliosis, Short nose	ORPHA:1358
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Depressed nasal bridge, Platyspondyly, Congenital kyphoscoliosis, ...	ORPHA:536471
Toluene Embryopathy	Short nose	ORPHA:1920
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Sacral dimple, Anteverted n...	ORPHA:264450
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Sacral dimple, Anteverted nares, Ver...	ORPHA:1507
Marshall Syndrome	Platyspondyly, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:154780
Schinzel-Giedion Syndrome	Broad nasal tip, Delayed eruption of teeth, Umbilical hernia, Neural tube defect, Streak ovary, K...	ORPHA:798
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Short nose, Narrow naris	OMIM:122880
3Q29 Microdeletion Syndrome	Six lumbar vertebrae, Prominent nasal bridge, Short nose	ORPHA:65286
Fontaine Progeroid Syndrome	Platyspondyly, Depressed nasal bridge, Umbilical hernia, Intrauterine growth retardation, Neonata...	OMIM:612289
Molybdenum Cofactor Deficiency, Type B	Short nose, Neonatal death	OMIM:252160
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Aplasia of the nasal bone, Kyphoscoliosis, Chordee, Holoprosencephaly, Short nose	OMIM:618820
Ogden Syndrome	Flared nostrils, Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Wide anterior fontan...	OMIM:300855
Deeah Syndrome	Intrauterine growth retardation, Prominent nasal tip, Short neck, Cervical hemivertebrae, C1-C2 s...	OMIM:619004
Aymé-Gripp Syndrome	Depressed nasal bridge, Scoliosis, Hydrocephalus, Short nose	ORPHA:1272
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Short nose	ORPHA:96147
Autosomal Dominant Robinow Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal form of the vertebral bodies, Umbilical herni...	ORPHA:3107
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Short nose	OMIM:601675
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Short nose	OMIM:608612
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Short nose, Ovoid vertebral bodies	OMIM:244450
Alg9-Cdg	Depressed nasal bridge, Underdeveloped nasal alae, Short neck, Hypoplasia of the ovary, Low inser...	ORPHA:79328
Warburg Micro Syndrome 2	Prominent nasal bridge, Short nose	OMIM:614225
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Narrow naris, Sacral dimple, Intraute...	OMIM:617157
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Short neck, Short nose	OMIM:608156
Khan-Khan-Katsanis Syndrome	Intrauterine growth retardation, Short nose, Scoliosis, Tethered cord, Sacral dimple	OMIM:618460
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Intrauterine growth retardation, Anteverted nare...	ORPHA:171929
Sponastrime Dysplasia	Platyspondyly, Depressed nasal bridge, Abnormality of the vertebral column, Intrauterine growth r...	ORPHA:93357
Chops Syndrome	Cervical C2/C3 vertebral fusion, Anteverted nares, Short nose	OMIM:616368
Bannayan-Riley-Ruvalcaba Syndrome	Anteverted nares, Scoliosis, Short nose, Wide nose	ORPHA:109
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Distal Duplication 5Q	Prominent nasal bridge, Short nose	ORPHA:96097
Temtamy Preaxial Brachydactyly Syndrome	Short nose	ORPHA:363417
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Depressed nasal bridge, Natal tooth, Anteverted nares, Short nose	ORPHA:50945
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Short nose	OMIM:613457
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Cervical C5/C6 vertebrae fusion, Bulbous nose, Antever...	OMIM:613458
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Bulbous nose, Depressed nasal tip, Intrauterine growth retardation, Anteverted...	OMIM:619475
Wiedemann-Steiner Syndrome	Wide nasal bridge, Sacral dimple, Intrauterine growth retardation, Short nose	ORPHA:319182
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Platyspondyly, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process,...	OMIM:271665
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Delayed eruption of teeth, Hypogonadism, Kyphoscoliosis, Short nose	OMIM:268400
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Broad nasal tip, Intrauterine growth retardation, Anteverted nares, Advanced e...	OMIM:615873
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Scoliosis, Short nose	OMIM:601353
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Short nose	OMIM:617527
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614080
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Short nose	ORPHA:2719
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Short nose	ORPHA:521426
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Underdeveloped nasal alae, Sacral dimple, Intrauterine growth retardation, Promi...	ORPHA:268261
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Lumbar hyperlordosis, Scoliosis, Short nose	ORPHA:522077
Femoral-Facial Syndrome	Absent vertebra, Underdeveloped nasal alae, Dysplastic sacrum, Encephalocele, Spina bifida, Hemiv...	OMIM:134780
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Abnormality of the vertebral column, Anteverted nares, S...	ORPHA:261112
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde...	OMIM:618332
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Intrauterine growth retardation, Hemivertebrae, Scolio...	OMIM:617140
Toriello-Carey Syndrome	Intrauterine growth retardation, Wide anterior fontanel, Short nose, Short neck	ORPHA:3338
Acrocallosal Syndrome	Wide nasal bridge, Umbilical hernia, Persistence of primary teeth, Short nose, Wide anterior font...	OMIM:200990
Witteveen-Kolk Syndrome	Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Branchial fistula, Underdeveloped nas...	OMIM:613406
Geleophysic Dysplasia 1	Wide nasal bridge, Platyspondyly, Anteverted nares, Ovoid vertebral bodies, Short nose	OMIM:231050
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Umbilical hernia, Anteverted nares, Vertebral segmentation defect, Short neck,...	ORPHA:373
Schinzel-Giedion Midface Retraction Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Choanal stenosis, Abnormal nasopharynx morp...	OMIM:269150
Arterial Tortuosity Syndrome	Scoliosis, Short nose	ORPHA:3342
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Short nose	OMIM:227330
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Convex nasal ridge, Short nose	OMIM:300661
Robinow Syndrome, Autosomal Dominant 1	Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Umbilical hernia, Sacral di...	OMIM:180700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Broad nasal tip, Bulbous nose, Intrauterine growth retardation, Anteverted nar...	OMIM:619522
Cornelia De Lange Syndrome 6	Intrauterine growth retardation, Scoliosis, Anteverted nares, Short nose	OMIM:620568
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Underdeveloped nasal alae, Short nose, Short neck	OMIM:263650
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Short nose	ORPHA:90154
Stickler Syndrome	Platyspondyly, Depressed nasal bridge, Depressed nasal ridge, Abnormal form of the vertebral bodi...	ORPHA:828
Coffin-Lowry Syndrome	Thick nasal septum, Broad columella, Thick nasal alae, Anteverted nares, Lumbar kyphosis, Scolios...	OMIM:303600
Semilobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Hydrocephalus, Scoliosis, Neural tube defect	ORPHA:93924
Acrofacial Dysostosis, Cincinnati Type	Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Intrauterine growth retardati...	OMIM:616462
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose	OMIM:619426
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Umbilical hernia, Prominent nasal bridge, Advanced eruption of teeth, Short nose	ORPHA:1519
Degcags Syndrome	Sacral dimple, Intrauterine growth retardation, Anteverted nares, Prominent nose, Prominent nasal...	OMIM:619488
Geleophysic Dysplasia 2	Short nose, Ovoid vertebral bodies	OMIM:614185
Acrocephalopolydactylous Dysplasia	Short neck, Short nose	OMIM:200995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anteverted nares, Short nose, Short neck	ORPHA:280633
Orofaciodigital Syndrome Type 4	Choanal atresia, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Wide nose	ORPHA:2753
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Short nose	ORPHA:3339
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Short neck, Short nose	OMIM:258315
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Rhinitis, Underdeveloped nasal alae, Short nose	OMIM:305100
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal ridge, Natal tooth, Umbilical hernia, Anteverted nares, Intraute...	ORPHA:672
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Syringomy...	ORPHA:2729
Molybdenum Cofactor Deficiency, Type A	Short nose	OMIM:252150
Ayme-Gripp Syndrome	Wide nasal bridge, Craniofacial asymmetry, Depressed nasal bridge, Short nose	OMIM:601088
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short nose	OMIM:609942
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Scoliosis, Short nose	OMIM:309590
Autosomal Recessive Faciodigitogenital Syndrome	Anteverted nares, Prominent nasal bridge, Short nose	ORPHA:1974
Cornelia De Lange Syndrome	Choanal atresia, Depressed nasal bridge, Delayed eruption of teeth, Intrauterine growth retardati...	ORPHA:199
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Short neck, Short nose	OMIM:609945
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short columella, Scoliosis, Short nose, Umbilical hernia	OMIM:601776
Aspartylglucosaminuria	Wide nasal bridge, Abnormal vertebral morphology, Umbilical hernia, Beaking of vertebral bodies, ...	ORPHA:93
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Anteverted nares, Cervical C2/C3 vertebral fusion, Short nose	ORPHA:444077
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Broad nasal tip, Umbilical hernia, Prominent nasal tip, Short neck, Short nose	OMIM:620330
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Wide nasal bridge, Depressed nasal bridge, Intrauterine growth retardation, Lumbar hyperlordosis,...	ORPHA:500150
Ctcf-Related Neurodevelopmental Disorder	Broad nasal tip, Anteverted nares, Short columella, Short nose, Sacral dimple	ORPHA:363611
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Vertebral segmenta...	OMIM:312870
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
C Syndrome	Depressed nasal bridge, Anteverted nares, Short neck, Short nose, Sacral dimple	ORPHA:1308
Williams-Beuren Syndrome	Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Intrauterine growth retardation, Antev...	OMIM:194050
Pallister-Killian Syndrome	Wide nasal bridge, Depressed nasal bridge, Wide anterior fontanel, Delayed eruption of teeth, Umb...	OMIM:601803
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Short nose	OMIM:606721
Penile Agenesis	Depressed nasal bridge, Atrophy of the spinal cord, Short nose	ORPHA:49

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

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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 21.1 Data