Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Hypomagnesemia, Hypocalcemia 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
Hypomagnesemia, Hypocalcemia 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
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Abnormal sacrum morphology, Spina bifida oc... ORPHA:1797
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida occulta OMIM:183802
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Spina bifida occulta OMIM:101805
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Depressed nasal bridge, Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Sprengel Deformity
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta OMIM:184400
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block verte... OMIM:613686
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:64754
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Spina bifida occulta at S1 OMIM:102510
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta, Short nose, Hypogonadism ORPHA:2983
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Isotretinoin Syndrome
Depressed nasal bridge, Sacral dimple, Spina bifida occulta ORPHA:2305
Neuronal Intranuclear Inclusion Disease
Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:2289
Acrofacial Dysostosis, Palagonia Type
Abnormal vertebral morphology, Hypoplasia of the odontoid process, Scoliosis, Spina bifida occult... OMIM:601829
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Abnormal intervertebral disk morphology, Depressed nasal... ORPHA:2311
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Three M Syndrome 1
Increased vertebral height, Depressed nasal bridge, Short neck, Spina bifida occulta, Hyperlordos... OMIM:273750
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Hypophosphatemia, Cataract, Iris coloboma ORPHA:2611
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose, Spina bifida occulta ORPHA:1185
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Short neck, Abnormal vertebral morphology ORPHA:2015
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short nose, Spondylolisthesis, Spina bifida occulta OMIM:617877
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Acrofacial Dysostosis, Palagonia Type
Bulbous nose, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:1787
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Spina bifida occulta ORPHA:177
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Cataract, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia OMIM:603233
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Becker Nevus Syndrome
Kyphosis, Scoliosis, Spina bifida occulta ORPHA:64755
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Fountain Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida ORPHA:3219
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Bulbous nose, Scoliosis, Spina bifida occulta, Prominent nasal bridge, Intrauterine growth retard... OMIM:617360
Acrocraniofacial Dysostosis
Abnormal form of the vertebral bodies, Spina bifida occulta, Advanced eruption of teeth, Choanal ... ORPHA:949
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Short neck, Scoliosis, Spina bifida occulta, Short nose, Underdeveloped nasal ala... OMIM:193700
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Depressed nasal bridge, Short neck, Short nose, Choanal atresia,... ORPHA:1914
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short col... OMIM:155050
Acrofacial Dysostosis, Catania Type
Short nose, Intrauterine growth retardation, Spina bifida occulta ORPHA:1786
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Thoracolumbar scoliosis, Spina bifida ORPHA:2437
Alagille Syndrome
Vertebral segmentation defect, Long nose, Abnormal form of the vertebral bodies, Spina bifida occ... ORPHA:52
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... ORPHA:1578
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Intrauterine growth retardation, Broad nasal tip, Narrow nose, Spina bifida occulta OMIM:300707
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... OMIM:619743
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Spina bifida occulta, Fused cervical vertebrae, Wide nose, Choanal atresia OMIM:619227
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Hyperlordosis, Wide nasal bridge ORPHA:2780
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Distal Monosomy 10Q
Lumbar hyperlordosis, Spina bifida occulta, Short nose, Prominent nose, Prominent nasal bridge, W... ORPHA:96148
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short neck, Short nose, Anteverted nares, Intrauterine growth retardation ORPHA:1832
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Spina bifida occulta OMIM:169550
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose ORPHA:217340
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Carpenter Syndrome 1
Persistence of primary teeth, Depressed nasal bridge, Short neck, Scoliosis, Spina bifida occulta... OMIM:201000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Intrauterine growth retardation, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2370
Rhiny
Anteverted nares, Short nose OMIM:180360
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Short nose OMIM:614069
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Noonan Syndrome With Multiple Lentigines
Scoliosis, Spina bifida occulta, Intrauterine growth retardation, Wide nasal bridge, Decreased fe... ORPHA:500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
3Mc Syndrome
Abnormal nasal morphology, Scoliosis, Spina bifida occulta, Hyperlordosis, Caudal appendage, Prom... ORPHA:293843
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Scoliosis, Spina bifida occulta, Short nos... OMIM:301030
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Depressed nasal bridge, Short umbilical cord, Abnormality of the... ORPHA:2369
Developmental And Epileptic Encephalopathy 73
Short nose, Scoliosis, Narrow nasal bridge OMIM:618379
Meckel Syndrome, Type 8
Short nose, Short neck, Depressed nasal ridge, Encephalocele OMIM:613885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Depressed nasal bridge, Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Umbilical her... OMIM:235510
Non-Distal Trisomy 10Q
Depressed nasal bridge, Short nose, Convex nasal ridge, Scoliosis ORPHA:1695
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge OMIM:616430
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Abnormality of dental eruption, Abnormal form of the vertebral bodies, Sh... ORPHA:1327
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Depressed nasal bridge, Scoliosis, Spina bifida occul... OMIM:150250
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Scoliosis, Spina bifida occulta, Umbilical hernia, Hypogonadism, I... ORPHA:2990
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia, Anemia OMIM:127000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypophosphatemia, Hypouricemia OMIM:616026
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Mental Retardation, X-Linked 91
Short nose OMIM:300577
Maxillonasal Dysplasia
Depressed nasal ridge, Vertebral clefting, Depressed nasal bridge, Abnormality of the nares, Scol... ORPHA:1248
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Short nose, Hydrocephalus, Occipital encephalocele OMIM:241800
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Adenylosuccinate Lyase Deficiency
Anteverted nares, Short nose ORPHA:46
Cleidocranial Dysplasia
Depressed nasal bridge, Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Abnormal sacr... ORPHA:1452
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Scoliosis, Short nose, Anteverted nares, Wide nasal bridge OMIM:618577
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Hydrocephalus, Prominent nasal bridge OMIM:300558
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... ORPHA:37042
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia OMIM:248190
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Dubowitz Syndrome
Hydrocephalus, Wide anterior fontanel, Depressed nasal bridge, Scoliosis, Delayed eruption of tee... ORPHA:235
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Depressed nasal ridge, Platyspondyly, Short nose, Intrauterine growth retardation OMIM:300863
Duane-Radial Ray Syndrome
Scoliosis, Spina bifida occulta, Fused cervical vertebrae, Choanal atresia, Choanal stenosis, Abn... OMIM:607323
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Abnormality of the vertebral column, Short nose, Hypogonadism, Short nasa... OMIM:302950
Pseudohypoparathyroidism, Type Ic
Obesity, Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:612462
Camptodactyly Syndrome, Guadalajara, Type I
Lumbar hyperlordosis, Horizontal sacrum, Depressed nasal bridge, Abnormality of dental eruption, ... OMIM:211910
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Hydrocephalus, Wide nasal bridge OMIM:613603
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Alport Syndrome 3, Autosomal Dominant
Azotemia, Lenticonus, Hypophosphatemia, Anterior polar cataract OMIM:104200
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Camptodactyly Syndrome, Guadalajara Type 3
Broad nasal tip, Depressed nasal tip, Short neck, Spina bifida occulta, Broad columella, Wide nas... ORPHA:488434
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia OMIM:248250
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, Short colu... ORPHA:171839
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Corneal crystals, Hypoca... ORPHA:411634
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose ORPHA:438178
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Scoliosis, Spina bifida occulta, Thoracolumbar kyphosis, Natal tooth, Wide nasal b... OMIM:300373
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose OMIM:613670
Acromicric Dysplasia
Anteverted nares, Bulbous nose, Short nose, Ovoid vertebral bodies ORPHA:969
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Acrocephalopolydactyly
Short nose, Short neck, Depressed nasal ridge ORPHA:221054
Hereditary Fructose Intolerance
Hypophosphatemia, Cataract, Hyperuricemia, Hypermagnesemia ORPHA:469
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Short nose, Scoliosis ORPHA:2429
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Edinburgh Malformation Syndrome
Anteverted nares, Short nose, Hydrocephalus, Choanal atresia ORPHA:1895
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Short neck, Umbilical hernia OMIM:613544
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Depressed nasal bridge, Short nose, ... OMIM:618961
Baker-Gordon Syndrome
Short nose, Prominent nasal tip, Scoliosis OMIM:618218
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Pseudohypoparathyroidism, Type Ia
Obesity, Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:103580
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Short nose, Hydrocephalus, Abnormal intervertebral disk morphology ORPHA:2701
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
17P13.3 Microduplication Syndrome
Short neck, Wide nose, Short nose ORPHA:217385
Leopard Syndrome 1
Kyphoscoliosis, Hypoplasia of the ovary, Depressed nasal ridge, Hyposmia, Delayed menarche, Short... OMIM:151100
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Neutropenia, Splenomegaly, Anemia, C... ORPHA:699
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose OMIM:613443
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Platyspondyly, Short nose, Intrauterine growth retardation ORPHA:163966
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Depressed nasal bridge, Short neck, Neonatal death, Bilateral choanal atres... OMIM:619859
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Short nose ORPHA:261120
Pierpont Syndrome
Broad nasal tip, Short neck, Scoliosis, Short nose, Wide nose OMIM:602342
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion c... ORPHA:411629
Townes-Brocks Syndrome 2
Scoliosis, Spina bifida occulta OMIM:617466
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Short neck, Wide nose, Short nose, Anteverted nares OMIM:300209
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Short nose, Intrauterine growth retardation OMIM:616910
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Short nose, Scoliosis ORPHA:2598
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... OMIM:219800
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Wide nasal bridge OMIM:601224
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Intrauterine growth retardation ORPHA:1495
Miller-Dieker Syndrome
Anteverted nares, Short nose, Sacral dimple ORPHA:531
Peho-Like Syndrome
Short nose OMIM:617507
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Zimmermann-Laband Syndrome 1
Broad nasal tip, Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Umbilical hernia, Wi... OMIM:135500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Thick nasal alae ORPHA:163961
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Glutamine Deficiency, Congenital
Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Wide nasal bridge OMIM:610015
Incontinentia Pigmenti
Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Umbilical hernia ORPHA:464
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Frontofacionasal Dysplasia
Depressed nasal ridge, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, Short nose, ... ORPHA:1791
3Mc Syndrome 1
Caudal appendage, Wide anterior fontanel, Sacral dimple, Spina bifida occulta OMIM:257920
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Achondrogenesis
Anteverted nares, Short nose, Short neck, Umbilical hernia ORPHA:932
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge ORPHA:1529
Waardenburg Syndrome Type 1
Scoliosis, Short nose, Meningocele, Spina bifida, Underdeveloped nasal alae, Wide nasal bridge ORPHA:894
Acrodysostosis
Spinal canal stenosis, Depressed nasal ridge, Depressed nasal bridge, Irregular menstruation, Abn... ORPHA:950
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Short nose, Vertebral fusion, Wide nasal bridge OMIM:615583
Baller-Gerold Syndrome
Hydrocephalus, Scoliosis, Spina bifida occulta, Choanal stenosis, Abnormal vertebral morphology, ... OMIM:218600
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Depressed nasal bridge, Short nose, Anteverted nares, Intrauterine growth ... OMIM:614613
Clark-Baraitser Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Low hanging columella OMIM:617752
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Codas Syndrome
Coronal cleft vertebrae, Depressed nasal bridge, Scoliosis, Abnormal form of the vertebral bodies... ORPHA:1458
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Knobloch Syndrome 1
Occipital meningocele, Bulbous nose, Depressed nasal bridge, Spina bifida occulta, Occipital ence... OMIM:267750
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Short nose, Intrauterine growth retardation OMIM:613604
Achondrogenesis Type 1B
Anteverted nares, Short nose, Short neck, Umbilical hernia ORPHA:93298
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Short nose OMIM:614744
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Abnormal form of the vertebral bodies, Hyperlordosis, Wide nose, Short nose ORPHA:2831
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Broad nasal tip, Depressed nasal bridge, Delayed eruption of teeth, Short... OMIM:619736
Pontocerebellar Hypoplasia, Type 10
Short nose, Kyphoscoliosis, Underdeveloped nasal alae, Wide nasal bridge OMIM:615803
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Frontometaphyseal Dysplasia
Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Wide nasal bridge ORPHA:1826
Microform Holoprosencephaly
Holoprosencephaly, Scoliosis, Narrow nasal bridge, Short nose, Choanal atresia, Anteverted nares,... ORPHA:280200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Depressed nasal ridge, Encephalocele, Wide nasal bridge, Exencephaly, Sacral dimple ORPHA:2211
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short nose OMIM:613458
Blepharocheilodontic Syndrome 1
Choanal atresia, Neural tube defect OMIM:119580
Achondrogenesis Type 1A
Anteverted nares, Short nose, Short neck, Umbilical hernia ORPHA:93299
Rubinstein-Taybi Syndrome 1
Wide anterior fontanel, Convex nasal ridge, Low hanging columella, Recurrent upper respiratory tr... OMIM:180849
Doors Syndrome
Bulbous nose, Broad nasal tip, Hemivertebrae, Arrhinencephaly, Spina bifida occulta, Sirenomelia,... ORPHA:79500
Dent Disease 1
Hypophosphatemia OMIM:300009
Fetal Trimethadione Syndrome
Depressed nasal bridge, Short nose, Intrauterine growth retardation, Scoliosis ORPHA:1913
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Slender nose, Scoliosis OMIM:615419
Distal Trisomy 18Q
Progressive intervertebral space narrowing, Short neck, Short nose, Choanal atresia, Anteverted n... ORPHA:1716
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Even-Plus Syndrome
Depressed nasal ridge, Vertebral clefting, Short neck, Bifid nasal tip, Short nose, Coronal cleft... OMIM:616854
Odontochondrodysplasia
Depressed nasal bridge, Platyspondyly, Scoliosis, Delayed eruption of teeth, Short nose ORPHA:166272
Perlman Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:2849
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Schneckenbecken Dysplasia
Narrow vertebral interpedicular distance, Platyspondyly, Short neck, Short nose, Ovoid vertebral ... OMIM:269250
Chung-Jansen Syndrome
Anteverted nares, Short nose OMIM:617991
Lowry-Maclean Syndrome
Hydrocephalus, Convex nasal ridge, Short nose, Short nasal bridge, Choanal atresia, Delayed erupt... ORPHA:2409
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Depressed nasal bridge, Short neck, Platyspondyly, Anisospondyly, Short n... ORPHA:163649
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Conjunctival whitish salt-like deposits, Hyperphosphatemia OMIM:211900
Camptodactyly Syndrome, Guadalajara, Type Iii
Short neck, Spina bifida occulta OMIM:611929
Poland Syndrome
Vertebral segmentation defect, Kyphosis, Hemivertebrae, Short neck, Scoliosis, Spina bifida occul... ORPHA:2911
Brachytelephalangic Chondrodysplasia Punctata
Spinal canal stenosis, Cervical cord compression, Butterfly vertebrae, Depressed nasal ridge, Atl... ORPHA:79345
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Underdeveloped nasal alae, Meningocele ORPHA:2031
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge OMIM:614078
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Short nose, Broad columella OMIM:617865
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Depressed nasal bridge, Short neck, Short nose, Wide nose, Severe platyspondyl... OMIM:613320
Sanjad-Sakati Syndrome
Corneal opacity, Hypocalcemia, Hyperphosphatemia, Astigmatism ORPHA:2323
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Hypophosphatemia, Hypokalemia, Abnormal pupil morphology, Hypoammonemia, Catarac... ORPHA:534
Peters Plus Syndrome
Hydrocephalus, Depressed nasal bridge, Short neck, Spina bifida occulta, Short nose, Umbilical he... ORPHA:709
Stickler Syndrome Type 1
Short nose, Platyspondyly, Abnormality of vertebral epiphysis morphology ORPHA:90653
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Depressed nasal bridge, Scoliosis, Short nose, Intrauterine growth retardation OMIM:619833
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Broad nasal tip, Cleft ala nasi, Scoliosis, Delayed eruption of ... OMIM:305600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Coffin-Siris Syndrome 1
Kyphosis, Broad nasal tip, Depressed nasal bridge, Scoliosis, Delayed eruption of teeth, Spina bi... OMIM:135900
Dermotrichic Syndrome
Abnormal vertebral morphology, Depressed nasal bridge, Short nose ORPHA:99688
Opsismodysplasia
Hypophosphatemia OMIM:258480
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short nose, Convex nasal ridge ORPHA:2145
Pterygium Colli, Isolated
Short nose OMIM:177990
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short neck, Short nose, Prominent nasal bridge, Intrauterine growth retardation, Underdeveloped n... ORPHA:2083
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Short neck, Scoliosis, Wide nose, Short nose, Anteverted nares, Intrauterine grow... ORPHA:391408
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Craniofacial-Deafness-Hand Syndrome
Short nose OMIM:122880
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Wide anterior fontanel, Umbilical hernia ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Scoliosis OMIM:615042
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Short nose, Intrauterine growth retardation OMIM:614732
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad nasal tip, Short nose, Wide nasal bridge OMIM:618529
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Depressed nasal bridge, Short nose, Prominent nasal bridge, Sacral dimple OMIM:618828
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Depressed nasal ridge OMIM:618774
Desbuquois Dysplasia 1
Kyphosis, Depressed nasal bridge, Short neck, Platyspondyly, Scoliosis, Hyperlordosis, Short nose... OMIM:251450
3C Syndrome
Kyphosis, Hydrocephalus, Depressed nasal bridge, Hemivertebrae, Short neck, Scoliosis, Short nose... ORPHA:7
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Popliteal Pterygium Syndrome
Spina bifida occulta OMIM:119500
Ruvalcaba Syndrome
Kyphosis, Convex nasal ridge, Scoliosis, Abnormality of vertebral epiphysis morphology, Short nos... ORPHA:3121
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Broad nasal tip, Short nose, Narrow nasal ridge OMIM:137550
Al-Raqad Syndrome
Short nose OMIM:616459
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Depressed nasal bridge, Short neck, Short nose, Umbilical hernia, Wide nasal bridge ORPHA:369891
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Scoliosis, Wide nasal bridge OMIM:218000
Tetrasomy 12P
Anteverted nares, Short nose, Short neck, Delayed eruption of teeth ORPHA:884
Spinocerebellar Ataxia With Dysmorphism
Anteverted nares, Short nose, Scoliosis OMIM:271270
Raine Syndrome
Hypophosphatemia OMIM:259775
Pfeiffer Syndrome
Hydrocephalus, Depressed nasal bridge, Short nose, Choanal atresia, Choanal stenosis OMIM:101600
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Calcinosis, Obesity, Conjunctivit... ORPHA:79444
Coffin-Siris Syndrome 9
Low hanging columella, Long nose, Depressed nasal bridge, Delayed eruption of teeth, Short nose, ... OMIM:615866
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia ORPHA:667
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Prominent nasal tip, Depressed nasal bridge, Caudal interpedicular... ORPHA:439822
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Delayed eruption of permanent teeth, Short nose OMIM:619356
Diaphanospondylodysostosis
Vertebral segmentation defect, Unossified sacrum, Depressed nasal ridge, Depressed nasal bridge, ... OMIM:608022
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Short nose, Prominent nasolabial fold, Recurrent upper respiratory tract infections ORPHA:391372
Harel-Yoon Syndrome
Short nose, Scoliosis OMIM:617183
Fibrochondrogenesis 2
Anteverted nares, Short nose, Platyspondyly OMIM:614524
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Bulbous nose, Short nose OMIM:614105
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Hemivertebrae, Short nose, Anteverted nares, Lobar holoprosencephaly, Wide na... OMIM:614701
Oculoauricular Syndrome
Spina bifida occulta OMIM:612109
Atelosteogenesis, Type I
Depressed nasal bridge, Short neck, Neonatal death, Fused cervical vertebrae, Short nose, Vertebr... OMIM:108720
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Depressed nasal tip, Flat nasal alae,... OMIM:610828
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short nose, Wide nasal bridge OMIM:611936
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Platyspondyly, Short nose, Anteverted nares, Intrauterine growth retardation, Wide na... OMIM:616897
Dent Disease
Elevated circulating creatine kinase concentration, Cataract, Renal hypophosphatemia ORPHA:1652
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
Tetrasomy 5P
Hydrocephalus, Wide anterior fontanel, Short neck, Short nose, Anteverted nares, Wide nasal bridge ORPHA:3309
Williams Syndrome
Vertebral segmentation defect, Kyphosis, Functional abnormality of male internal genitalia, Hypog... ORPHA:904
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low hanging columella, Scoliosis, Broad columella, Narrow nasal bridge, Short nose, Anteverted na... OMIM:619383
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short nose, Short neck, Kyphosis OMIM:608776
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Tetrasomy 18P
Short nose, Scoliosis ORPHA:3307
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Developmental cataract, Anemia, Hypocalcemic seizures ORPHA:93325
Trisomy 20P
Vertebral segmentation defect, Kyphosis, Short neck, Platyspondyly, Scoliosis, Abnormal form of t... ORPHA:261318
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta ORPHA:500095
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short nose, Wide anterior fontanel, Umbilical hernia OMIM:616638
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge OMIM:618437
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Short nose, Wide nose OMIM:613457
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Hydrocephalus OMIM:617822
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Spinal canal stenosis, Hydrocephalus, Depressed nasal bridge, Cervical spinal canal stenosis, Sco... OMIM:616007
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Obesity, Hyperphosphatemia ORPHA:457059
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Depressed nasal bridge, Narrow nose, Scoliosis, Short nose, Umbilical hernia, Antev... OMIM:618454
Fibrochondrogenesis 1
Wide anterior fontanel, Depressed nasal bridge, Short neck, Platyspondyly, Short nose, Anteverted... OMIM:228520
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Bulbous nose, Short nose, Choanal atresia ORPHA:284169
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... ORPHA:811
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hypocalcemia OMIM:619503
Femoral-Facial Syndrome
Vertebral segmentation defect, Short nose, Abnormal sacrum morphology, Scoliosis ORPHA:1988
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Long nose, Depressed nasal bridge, Scoliosis, Short nose OMIM:618590
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Alg3-Cdg
Abnormality of the nose, Neural tube defect ORPHA:79321
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Band keratopathy, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Calcinosis, Obe... ORPHA:79443
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Bulbous nose, Depressed nasal bridge, Scoliosis, Short nose ORPHA:261144
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Short nose, Scoliosis OMIM:618430
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Fetal Alcohol Syndrome
Anteverted nares, Short nose, Intrauterine growth retardation, Vertebral segmentation defect ORPHA:1915
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Short nose OMIM:616420
Smith-Magenis Syndrome
Depressed nasal bridge, Scoliosis, Abnormal form of the vertebral bodies, Short nose, Anteverted ... ORPHA:819
Pallister-Hall Syndrome
Holoprosencephaly, Depressed nasal bridge, Hemivertebrae, Neonatal death, Short nose, Choanal atr... OMIM:146510
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
9q subtelomeric deletion syndrome
Anteverted nares, Short nose DECIPHER:52
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Bulbous nose, Depressed nasal bridge, Scoliosis, Short nose, Wide nasal bridge OMIM:617061
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Depressed nasal bridge, Short nose, Choanal atresia ORPHA:93259
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Broad nasal tip, Depressed nasal bridge, Scoliosis, Short nose, ... OMIM:615485
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Scoliosis, Narrow nasal bridge ORPHA:544503
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Abnormal nasal bridge morphology, Depressed nasal bridge,... ORPHA:363659
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Short nose, Aqueductal stenosis ORPHA:93258
Cutis Laxa, Autosomal Recessive, Type Iia
Wide anterior fontanel, Scoliosis, Short nose, Anteverted nares, Intrauterine growth retardation OMIM:219200
Baraitser-Winter Syndrome 1
Anteverted nares, Short nose, Short neck, Wide nasal bridge OMIM:243310
Fructose Intolerance, Hereditary
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia OMIM:229600
Achondrogenesis, Type Ia
Hypoplastic sacrum, Depressed nasal bridge, Hypoplastic nasal bridge, Short neck, Short nose, Uno... OMIM:200600
Lathosterolosis
Bulbous nose, Abnormal thoracic spine morphology, Short nose, Meningocele, Anteverted nares, Intr... ORPHA:46059
Rhombencephalosynapsis
Anteverted nares, Short nose, Hydrocephalus ORPHA:59315
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Short neck, Short nose, Prominent nose, Narrow nasal ridge, Intrauterine ... ORPHA:363528
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Short nose, Prominent nasal bridge OMIM:613870
Ohdo Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Wide nasal bridge OMIM:249620
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Long nose, Short nose, Absent nasal bridge, Anteverted nares, Intrauterine growth r... ORPHA:261211
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Platyspondyly, Short neck, Thoracolumbar scoliosis, Short nose OMIM:616723
Gms Syndrome
Depressed nasal bridge, Short nose OMIM:138770
Aarskog-Scott Syndrome
Testicular atrophy, Short neck, Scoliosis, Short nose, Anteverted nares, Hypoplasia of the odonto... OMIM:305400
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Advanced eruption of teeth, Short nose, Anteverted nares, Wide nasal bridge OMIM:615873
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Broad nasal tip, Short nose, Hydrocephalus, Wide nasal bridge OMIM:239300
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Narrow nose, Scoliosis, Short nose, Intrauterine growth retardation OMIM:617602
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Peho Syndrome
Anteverted nares, Short nose, Hydrocephalus ORPHA:2836
16P13.11 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Short nose, Holoprosencephaly ORPHA:261236
Micro Syndrome
Kyphosis, Scoliosis, Short nose, Anteverted nares, Intrauterine growth retardation, Wide nasal br... ORPHA:2510
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short nose, Wide anterior fontanel OMIM:601853
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Hypogonadotropic hypogonadism, Anosmia ORPHA:1295
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
16P12.1P12.3 Triplication Syndrome
Bulbous nose, Short nose, Intrauterine growth retardation ORPHA:485405
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Thoracic he... ORPHA:268810
Desmosterolosis
Hydrocephalus, Depressed nasal bridge, Abnormality of the nose, Short nose, Intrauterine growth r... ORPHA:35107
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Astigmatism ORPHA:261250
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Short neck, Short nose, Umbilical hernia, Decrease... ORPHA:870
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Fetal Hydantoin Syndrome
Short nose, Intrauterine growth retardation, Depressed nasal ridge ORPHA:1912
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Trisomy 18
Holoprosencephaly, Anencephaly, Short nose, Choanal atresia, Spina bifida, Intrauterine growth re... ORPHA:3380
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Broad nasal tip, Short neck, Branchial cyst, Spina bifida occulta, Anteverted... ORPHA:508488
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short nose, Anteverted nares, Intrauterine growth retardation, Underdeveloped nasal alae, Wide na... OMIM:613026
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Depressed nasal bridge, Short neck, Wafer-thin platyspondyly, Short nose, Anteverted nares OMIM:602613
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Hydrocephalus, Hemivertebrae, Short nose, Intrauterine growth retardation, Wide nas... OMIM:227255
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Short nose, Natal tooth OMIM:617802
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides OMIM:101800
Trisomy 12P
Short nose, Short neck, Wide nasal bridge ORPHA:1699
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose ORPHA:2835
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Intrauterine growth retarda... OMIM:608013
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short nose OMIM:614261
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hydrocephalus, Abnormal vertebral segmentation and fusion, Depressed nasal brid... ORPHA:90652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Anteverted nares, Depressed nasal bridge, Short nose, Scoliosis OMIM:615398
Jacobsen Syndrome
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Short neck, Short nose, Anteverted nare... OMIM:147791
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose ORPHA:2547
Marshall-Smith Syndrome
Anteverted nares, Short nose, Choanal atresia, Scoliosis ORPHA:561
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Kyphosis, Bulbous nose, Cervical cord compression, Lumbar hyperlordosis, Increased intervertebral... ORPHA:508533
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Scoliosis ORPHA:496790
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Depressed nasal bridge, Short neck, Short nose, Wide nose, Anteverted nares, Intra... OMIM:257300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Short nose, Hydrocephalus ORPHA:1812
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Short nose ORPHA:93328
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Short nose OMIM:605309
Opsismodysplasia
Depressed nasal bridge, Short nose, Hypoplastic vertebral bodies, Abnormally ossified vertebrae ORPHA:2746
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Wide nasal bridge, Scoliosis OMIM:619179
Donnai-Barrow Syndrome
Wide anterior fontanel, Broad nasal tip, Depressed nasal bridge, Short nose, Umbilical hernia OMIM:222448
Non-Distal Trisomy 13Q
Short nose ORPHA:1702
Malan Syndrome
Short nose, Scoliosis, Advanced eruption of teeth OMIM:614753
8P23.1 Microdeletion Syndrome
Short neck, Short nose, Prominent nasal bridge, Intrauterine growth retardation, Wide nasal bridge ORPHA:251071
Cerebrooculonasal Syndrome
Hydrocephalus, Short nose, Anteverted nares, Encephalocele, Prominent nasal bridge, Proboscis OMIM:605627
Johanson-Blizzard Syndrome
Abnormality of the nares, Delayed eruption of teeth, Short nose, Intrauterine growth retardation,... ORPHA:2315
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Short neck, Scoliosis, Short nose, Wide nasal bridge OMIM:618571
Jaberi-Elahi Syndrome
Kyphosis, Depressed nasal bridge, Short nose, Scoliosis OMIM:617988
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose OMIM:618087
Peho Syndrome
Short nose OMIM:260565
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Short nose, Syringomyelia OMIM:613735
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Short nose, Choanal atresia, Aqueductal stenosis ORPHA:93260
Teebi Hypertelorism Syndrome 1
Depressed nasal bridge, Short nose, Natal tooth, Anteverted nares, Wide nasal bridge OMIM:145420
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose, Decreased fertility OMIM:234050
Craniofaciofrontodigital Syndrome
Hypoplastic vertebral bodies, Depressed nasal bridge, Short neck, Short nose, Anteverted nares OMIM:114620
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Platyspondyly, Scoliosis, Short nose, Anteverted nares, Intrauterine growth retardation OMIM:612394
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Depressed nasal ridge, Hemivertebrae, Scoliosis, Short nose, Prominent nose, Short ... OMIM:156200
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, Sacral di... OMIM:616331
Cardiofaciocutaneous Syndrome 1
Bulbous nose, Hydrocephalus, Depressed nasal bridge, Short neck, Scoliosis, Short nose, Anteverte... OMIM:115150
Desmosterolosis
Anteverted nares, Short nose, Hypoplastic nasal bridge, Hydrocephalus OMIM:602398
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Scoliosis OMIM:615851
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Lumbar hyperlordosis, Kyphoscoliosis, Depressed nasal bridge, Platyspondyly, Biconc... OMIM:271510
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Depressed nasal bridge, Scoliosis, Short nose, Low insertion of columella, Anteverted n... OMIM:619005
Autosomal Recessive Omodysplasia
Anteverted nares, Depressed nasal bridge, Short nose ORPHA:93329
Otopalatodigital Syndrome, Type I
Short nose, Scoliosis, Wide nasal bridge, Multiple impacted teeth OMIM:311300
Phocomelia, Schinzel Type
Short neck, Aplasia/Hypoplasia of the sacrum, Short nose, Meningocele, Intrauterine growth retard... ORPHA:2879
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Anteverted nares, Depressed nasal bridge, Short nose OMIM:242860
Cenani-Lenz Syndrome
Short nose, Convex nasal ridge, Abnormal form of the vertebral bodies, Scoliosis ORPHA:3258
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Hydrocephalus, Kyphoscoliosis, Atlantoaxial dislocation, Depressed n... ORPHA:536467
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Hemivertebrae, Short neck, Scoliosis, Wide nose, Short nose ORPHA:1394
Monosomy 9Q22.3
Kyphosis, Hydrocephalus, Short neck, Abnormality of the vertebral column, Delayed eruption of tee... ORPHA:77301
Osteoglophonic Dysplasia
Chordee, Eruption failure, Depressed nasal bridge, Short neck, Platyspondyly, Short nose, Nasal c... OMIM:166250
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Hydrocephalus, Wide anterior fontanel, Depressed nasal bridge, Oligospermia, Primar... ORPHA:95699
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Short nose OMIM:206920
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Depressed nasal bridge, Hemivertebrae, Scoliosis, Short nose, Umbilical... OMIM:301040
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Kyphoscoliosis, Intrauterine growth retardation, Wide nasal bridge OMIM:618005
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Scoliosis ORPHA:329178
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Depressed nasal bridge, Platyspondyly, Short neck, H... ORPHA:457395
Jacobsen Syndrome
Short neck, Scoliosis, Abnormal form of the vertebral bodies, Broad columella, Short nose, Anteve... ORPHA:2308
Warburg Micro Syndrome 3
Short nose, Kyphoscoliosis OMIM:614222
Marshall-Smith Syndrome
Kyphosis, Hydrocephalus, Cervical cord compression, Kyphoscoliosis, Thoracic scoliosis, Atlantoax... OMIM:602535
Weiss-Kruszka Syndrome
Anteverted nares, Short nose OMIM:618619
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Broad nasal tip, Scoliosis, Short nose, Prominent nasal bridge, Wide nasal bridge OMIM:300749
Nablus Mask-Like Facial Syndrome