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Gene: Trpm6 MGI:2675603

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Gene Summary

Name:
transient receptor potential cation channel, subfamily M, member 6
Synonyms:
CHAK2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating phosphate level Trpm6tm1b(KOMP)Wtsi HET Early adult 4.71×10-05
increased grip strength Trpm6tm1b(KOMP)Wtsi HET Early adult 6.65×10-06
decreased mean corpuscular volume Trpm6tm1b(KOMP)Wtsi HET Early adult 9.67×10-06
abnormal eye anterior chamber depth Trpm6tm1b(KOMP)Wtsi HET Early adult 2.89×10-05
increased body length Trpm6tm1b(KOMP)Wtsi HET Early adult 3.62×10-07

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Viewing: all phenotypes

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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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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.

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 Similarity of
phenotypes		 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