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 body length Trpm6tm1b(KOMP)Wtsi HET Early adult 3.62×10-07
increased grip strength Trpm6tm1b(KOMP)Wtsi HET Early adult 6.65×10-06
decreased circulating phosphate level Trpm6tm1b(KOMP)Wtsi HET Early adult 4.71×10-05
decreased mean corpuscular volume Trpm6tm1b(KOMP)Wtsi HET Early adult 9.67×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A 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
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
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segmentation defect, ... ORPHA:1797
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Depressed nasal bridge, Spina bifida occulta ORPHA:2840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Spina bifida occulta OMIM:184400
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Nevus Comedonicus Syndrome
Scoliosis, Abnormal vertebral morphology, Spina bifida occulta, Spina bifida ORPHA:64754
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Kyphosis, Hypogonadism, Short neck ORPHA:2983
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Spina bifida occulta, Prominent nose OMIM:101805
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Isotretinoin Syndrome
Sacral dimple, Depressed nasal bridge, Spina bifida occulta ORPHA:2305
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Three M Syndrome 1
Increased vertebral height, Spina bifida occulta, Anteverted nares, Hyperlordosis, Intrauterine g... OMIM:273750
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
Tethered cord, Spina bifida occulta OMIM:615281
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma ORPHA:2611
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Hydrocephalus, Scoliosis, Hemivertebr... OMIM:613686
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose, Spina bifida occulta ORPHA:1185
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Short nose, Abnormal vertebral morphology, Anteverted nares ORPHA:2015
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Short neck, Bulbous nose ORPHA:1787
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short nose, Spondylolisthesis, Spina bifida occulta OMIM:617877
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Spina bifida occulta ORPHA:177
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:146200
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose, Encephalocele OMIM:200130
Vitamin K Antagonist Embryofetopathy
Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Punctate vertebral calcifications, ... ORPHA:1914
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Spina bifida occulta, Abnormal form of the vertebral bodies, Antevert... ORPHA:949
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spina bifida ORPHA:3219
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
East Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia ORPHA:199343
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Scoliosis, Prominent nasal bridge, Intrauterine growth retardation, Bulbous... OMIM:617360
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Short nose, Spina bifida occulta, Scoliosis, Short neck, Wide nasal bridge, Under... OMIM:193700
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Thoracolumbar scoliosis ORPHA:2437
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Short nose, Spina bifida occulta ORPHA:1786
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Scoliosis, Kyphosis, Spina bifida occulta OMIM:618291
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Alagille Syndrome
Long nose, Butterfly vertebral arch, Spina bifida occulta, Abnormal form of the vertebral bodies,... ORPHA:52
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... ORPHA:1578
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Depressed nasal bridge, Short col... OMIM:155050
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Wide nose, Spina bifida occulta, Choanal atresia OMIM:619227
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Hyperlordosis, Wide nasal bridge ORPHA:2780
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta OMIM:268850
Lethal Osteosclerotic Bone Dysplasia
Short nose, Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short neck ORPHA:1832
Distal Deletion 10Q
Short nose, Spina bifida occulta, Prominent nasal bridge, Prominent nose, Wide nasal bridge, Lumb... ORPHA:96148
Carpenter Syndrome 1
Sacral dimple, Spina bifida occulta, Scoliosis, Persistence of primary teeth, Umbilical hernia, S... OMIM:201000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Rhiny
Short nose, Anteverted nares OMIM:180360
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
17Q21.31 Microduplication Syndrome
Anteverted nares, Short nose ORPHA:217340
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short nose, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2370
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Joubert Syndrome 15
Exencephaly OMIM:614464
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Noonan Syndrome With Multiple Lentigines
Spina bifida occulta, Scoliosis, Intrauterine growth retardation, Decreased fertility, Wide nasal... ORPHA:500
Kenny-Caffey Syndrome, Type 2
Anemia, Transient hypophosphatemia, Hypocalcemia, Developmental cataract, Hyperphosphatemia OMIM:127000
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Abnormalit... ORPHA:2369
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Depressed nas... ORPHA:1248
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypomagnesemia, Abnormal circulating calcium concentration OMIM:248190
Van Esch-O'Driscoll Syndrome
Short nose, Sacral dimple, Spina bifida occulta, Scoliosis, Intrauterine growth retardation, Hypo... OMIM:301030
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Scoliosis, Vertebral segmentation defect, Hypogonadism, Umbilical hernia, I... ORPHA:2990
3Mc Syndrome
Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Abnormal nasal morphology, Umbi... ORPHA:293843
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Developmental And Epileptic Encephalopathy 73
Short nose, Scoliosis, Narrow nasal bridge OMIM:618379
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Non-Distal Duplication 10Q
Convex nasal ridge, Short nose, Scoliosis, Depressed nasal bridge ORPHA:1695
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Umbilical hernia, Wide nasal bridge, ... OMIM:235510
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Cleidocranial Dysplasia
Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Abnormal sacrum morphology, Depressed... ORPHA:1452
Hyperparathyroidism, Neonatal Severe
Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:612780
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia OMIM:616026
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Anteverted nares, Scoliosis, Wide nasal bridge OMIM:618577
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Sacral dimple, Abnormal form of the vertebral bodies, Anteverted nares, Spina bifida,... ORPHA:1327
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Spina bifida occulta, Scoliosis, Spinal cord compress... OMIM:150250
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Spina bifida occulta, Wide nose, Broad nasal tip, Intrauterine growth retardation, Depressed nasa... OMIM:300707
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Dubowitz Syndrome
Sacral dimple, Spina bifida occulta, Delayed eruption of teeth, Hydrocephalus, Wide anterior font... ORPHA:235
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:36913
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Spina bifida occulta, Depressed nasal tip, Broad columella, Broad nasal tip, Sho... ORPHA:488434
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Obesity, Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:612462
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Choanal atresia, Abnormal nasopharynx ... OMIM:607323
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho... OMIM:307800
Meckel Syndrome, Type 8
Occipital encephalocele, Short nose, Encephalocele, Depressed nasal ridge, Short neck OMIM:613885
Verheij Syndrome
Short nose, Anteverted nares, Scoliosis, Hemivertebrae, Broad nasal tip, Intrauterine growth reta... OMIM:615583
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Weiss-Kruszka Syndrome
Short nose, Prominent nasal tip ORPHA:502430
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Gitelman Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:263800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Hydrocephalus, Depressed nasal ridge, Platyspondyly, Intrauterine growth retardation OMIM:300863
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Hypophosphatemia, Splenomegaly, Hypochromic an... ORPHA:289157
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Hemivertebrae, Choanal atresia, Chordee, Choanal stenosis, Intrauterine gro... OMIM:151050
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Abnormality of the vertebral column, Anosmia, Hypogonadism, Depre... OMIM:302950
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Acrocephalopolydactyly
Short neck, Short nose, Depressed nasal ridge ORPHA:221054
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Azotemia, Hypophosphatemia, Anterior polar cataract OMIM:104200
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Corneal crystals, Hypophosphatemia, Hypoca... ORPHA:411634
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Anteverted nares, Short neck, Wide n... ORPHA:233
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hydrocephalus, Anteverted nares, Umbilical hernia, Depressed nasal bridge, Short colu... ORPHA:171839
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Short nose, Depressed nasal bridge OMIM:241800
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus, Scoliosis, Natal tooth, Thoracolumbar kyphosis, Wide nasal b... OMIM:300373
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Baker-Gordon Syndrome
Short nose, Scoliosis, Prominent nasal tip OMIM:618218
Acromicric Dysplasia
Anteverted nares, Short nose, Ovoid vertebral bodies, Bulbous nose ORPHA:969
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Scoliosis, Kyphosis ORPHA:2429
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... ORPHA:94089
Leopard Syndrome 1
Kyphoscoliosis, Spina bifida occulta, Hyposmia, Hypoplasia of the ovary, Delayed menarche, Depres... OMIM:151100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Pseudohypoparathyroidism, Type Ia
Cataract, Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Umbilical hernia, Short neck OMIM:613544
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Edinburgh Malformation Syndrome
Hydrocephalus, Anteverted nares, Short nose, Choanal atresia ORPHA:1895
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Frontofacionasal Dysplasia
Short nose, Encephalocele, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal... ORPHA:1791
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Anteverted nares, Short nose, Abnormal intervertebral disk morphology ORPHA:2701
Infantile Nephropathic Cystinosis
Hypokalemia, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentration, Abnormal corne... ORPHA:411629
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
17P13.3 Microduplication Syndrome
Short neck, Short nose, Wide nose ORPHA:217385
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Lumbar hemivertebrae, Anteverted nares, Choanal atresia, N... OMIM:619859
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Corneal stromal edema, Hyperalaninemia, Reticulo... ORPHA:699
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Hydrocephalus, Depressed nasal ridge, Platyspondyly, Intrauterine growth retardation ORPHA:163966
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Increased intervertebral space, An... OMIM:618961
Pierpont Syndrome
Short nose, Wide nose, Scoliosis, Broad nasal tip, Short neck OMIM:602342
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
14Q11.2 Microdeletion Syndrome
Short nose, Depressed nasal bridge ORPHA:261120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Intrauterine growth retardation, Short nose, Scoliosis, Slender nose OMIM:615419
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Broad nasal tip, Umbilical hernia, Wi... OMIM:135500
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Scoliosis, Kyphosis ORPHA:2598
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Incontinentia Pigmenti
Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Umbilical hernia ORPHA:464
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Peho-Like Syndrome
Short nose OMIM:617507
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Townes-Brocks Syndrome 2
Scoliosis, Spina bifida occulta OMIM:617466
Miller-Dieker Syndrome
Short nose, Anteverted nares, Sacral dimple ORPHA:531
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Short nose ORPHA:1495
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Short nose, Delayed eruption of permanent teeth OMIM:618506
Glutamine Deficiency, Congenital
Short nose, Anteverted nares, Neonatal death, Wide nasal bridge, Depressed nasal bridge OMIM:610015
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Hypokalemia ORPHA:358
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Spina bifida occulta, Depressed nasal ridge, Short neck, Hypopla... OMIM:105650
Waardenburg Syndrome Type 1
Short nose, Meningocele, Scoliosis, Spina bifida, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Occipital meningocele, Bulbous nose, Depressed nas... OMIM:267750
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge ORPHA:1529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:616910
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Clark-Baraitser Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella OMIM:617752
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Intrauterine growth retardation, Bulbous nose, Wide nasal bridge OMIM:613604
Even-Plus Syndrome
Short nose, Bifid nasal tip, Depressed nasal ridge, Vertebral clefting, Coronal cleft vertebrae, ... OMIM:616854
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Frontometaphyseal Dysplasia
Scoliosis, Fused cervical vertebrae, Wide nasal bridge, Spina bifida occulta ORPHA:1826
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, Broad nasal tip, Depressed nasal b... OMIM:619736
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Short nose, Thick nasal alae ORPHA:163961
Rubinstein-Taybi Syndrome 1
Deviated nasal septum, Spina bifida occulta, Low hanging columella, Wide anterior fontanel, Scoli... OMIM:180849
3Mc Syndrome 1
Wide anterior fontanel, Caudal appendage, Sacral dimple, Spina bifida occulta OMIM:257920
Achondrogenesis
Short neck, Short nose, Anteverted nares, Umbilical hernia ORPHA:932
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Sacral dimple, Encephalocele, Depressed nasal ridge, Exencephaly, Wide nasal bridge ORPHA:2211
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Delayed eruption o... ORPHA:1458
Microform Holoprosencephaly
Short nose, Narrow nasal bridge, Anteverted nares, Scoliosis, Choanal atresia, Midnasal stenosis,... ORPHA:280200
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Wide nose, Abnormal form of the vertebral bodies, Hyperlordosis, Depressed nasal ridge ORPHA:2831
Baller-Gerold Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Hydrocephalus, Wide anterior fontanel, Scoli... OMIM:218600
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Spinal canal stenosis, Intrauterine growth retardation, Depressed n... OMIM:614613
Dent Disease 1
Hypophosphatemia OMIM:300009
Fetal Trimethadione Syndrome
Intrauterine growth retardation, Short nose, Scoliosis, Depressed nasal bridge ORPHA:1913
Peters Plus Syndrome
Short nose, Sacral dimple, Spina bifida occulta, Hydrocephalus, Anteverted nares, Umbilical herni... ORPHA:709
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Achondrogenesis Type 1B
Short neck, Short nose, Anteverted nares, Umbilical hernia ORPHA:93298
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Short nose, Abnormality of the vertebral col... ORPHA:79345
Odontochondrodysplasia
Short nose, Delayed eruption of teeth, Scoliosis, Platyspondyly, Depressed nasal bridge ORPHA:166272
Trigonocephaly 1
Short nose, Wide nasal bridge, Lumbar hemivertebrae OMIM:190440
Distal Duplication 18Q
Short nose, Anteverted nares, Choanal atresia, Prominent nasal bridge, Short neck, Progressive in... ORPHA:1716
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Wide anterior fontanel, Anteverted nares, Thoracic kyphosis, Anisospondyly, Ovoid ver... ORPHA:163649
8Q24.3 Microdeletion Syndrome
Spina bifida occulta, Anteverted nares, Broad nasal tip, Thoracic scoliosis, Intrauterine growth ... ORPHA:508488
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short nose, Underdeveloped nasal alae, Meningocele ORPHA:2031
Achondrogenesis Type 1A
Short neck, Short nose, Anteverted nares, Umbilical hernia ORPHA:93299
Fg Syndrome 5
Short nose, Anteverted nares, Depressed nasal bridge OMIM:300581
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Corneal opacity, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Cataract,... ORPHA:534
Camptodactyly Syndrome, Guadalajara, Type Iii
Short neck, Spina bifida occulta OMIM:611929
Chung-Jansen Syndrome
Anteverted nares, Short nose OMIM:617991
Blepharocheilodontic Syndrome 1
Neural tube defect, Choanal atresia OMIM:119580
Schneckenbecken Dysplasia
Stillbirth, Short nose, Narrow vertebral interpedicular distance, Ovoid vertebral bodies, Umbilic... OMIM:269250
Perlman Syndrome
Anteverted nares, Short nose, Wide nasal bridge ORPHA:2849
Poland Syndrome
Spina bifida occulta, Encephalocele, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyp... ORPHA:2911
Doors Syndrome
Sirenomelia, Wide nasal base, Spina bifida occulta, Anteverted nares, Hemivertebrae, Lumbar scoli... ORPHA:79500
Lowry-Maclean Syndrome
Short nose, Hydrocephalus, Choanal atresia, Short nasal bridge, Intrauterine growth retardation, ... ORPHA:2409
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Hydrocephalus, Scoliosis, Intrauterine growth retardation, Depressed nasal bridge OMIM:619833
Opsismodysplasia
Hypophosphatemia OMIM:258480
Focal Dermal Hypoplasia
Spina bifida occulta, Cleft ala nasi, Hydrocephalus, Narrow nasal bridge, Scoliosis, Delayed erup... OMIM:305600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia, Conjunctival whitish salt-like deposits OMIM:211900
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Coffin-Siris Syndrome 1
Sacral dimple, Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Choanal atresia, Kypho... OMIM:135900
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity ORPHA:2323
Stickler Syndrome Type 1
Platyspondyly, Short nose, Abnormal vertebral epiphysis morphology ORPHA:90653
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Acrodysostosis
Short nose, Irregular menstruation, Abnormal form of the vertebral bodies, Delayed eruption of te... ORPHA:950
Dermotrichic Syndrome
Short nose, Abnormal vertebral morphology, Depressed nasal bridge ORPHA:99688
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip OMIM:137550
Donnai-Barrow Syndrome
Wide anterior fontanel, Short nose, Depressed nasal bridge, Umbilical hernia ORPHA:2143
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short nose, Convex nasal ridge ORPHA:2145
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Sacral dimple, Prominent nasal bridge, Bulbous nose, Depressed nasal bridge OMIM:618828
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Pterygium Colli, Isolated
Short nose OMIM:177990
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Umbilical hernia, Short neck, Bulbous nose, Wide nasal bridge, Depressed nasal bridge ORPHA:369891
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge OMIM:618774
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Short nose, Wide nose, Anteverted nares, Scoliosis, Intrauterine growth retardati... ORPHA:391408
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Prominent nasal bridge, Intrauterine growth retardation, Short neck, Underdeveloped n... ORPHA:2083
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Scoliosis OMIM:615042
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Wide nose, Anteverted nares, Dysplastic sacrum, Severe platyspondyly, Short neck, Dep... OMIM:613320
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge OMIM:620292
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Ruvalcaba Syndrome
Short nose, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Intrauterine growth ret... ORPHA:3121
Popliteal Pterygium Syndrome
Spina bifida occulta OMIM:119500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:614732
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Diaphanospondylodysostosis
Short nose, Lumbosacral meningocele, Absent in utero ossification of vertebral bodies, Vertebral ... OMIM:608022
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long nose, Short nose, Low hanging columella, Delayed eruption of teeth, Anteverted nares, Underd... OMIM:615866
Desbuquois Dysplasia 1
Short nose, Scoliosis, Hyperlordosis, Kyphosis, Concave nasal ridge, Platyspondyly, Short neck, I... OMIM:251450
Pfeiffer Syndrome
Short nose, Hydrocephalus, Choanal atresia, Choanal stenosis, Depressed nasal bridge OMIM:101600
Raine Syndrome
Hypophosphatemia OMIM:259775
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Anteverted nares, Scoliosis, Prominent nose, Wide nasal bridge, Depressed nasal bridge OMIM:618316
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Scoliosis, Broad colume... OMIM:619383
Holoprosencephaly 7
Semilobar holoprosencephaly, Midline defect of the nose, Short nose, Alobar holoprosencephaly, Hy... OMIM:610828
Foxp1 Syndrome
Short nose, Broad nasal tip, Prominent nasolabial fold, Recurrent upper respiratory tract infections ORPHA:391372
Harel-Yoon Syndrome
Short nose, Scoliosis OMIM:617183
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections OMIM:614069
Oculoauricular Syndrome
Spina bifida occulta OMIM:612109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Anteverted nares, Intrauterine growth retardation, Platyspondyly, Short neck, Wide na... OMIM:616897
3C Syndrome
Short nose, Hydrocephalus, Scoliosis, Hemivertebrae, Kyphosis, Short neck, Wide nasal bridge, Dep... ORPHA:7
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Broad nasal tip, Wide nasal bridge OMIM:615716
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Intervertebral space narrowing OMIM:614078
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity, Hypocalcemic tetany, Conjunctivitis, Ca... ORPHA:79444
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Short nose, Delayed eruption of permanent teeth OMIM:619356
Tetrasomy 12P
Short neck, Short nose, Anteverted nares, Delayed eruption of teeth ORPHA:884
Williams Syndrome
Short nose, Sacral dimple, Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:904
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Dent Disease
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Developmental cataract, Hypocalcemic tetany, Hyperphosphatemia ORPHA:93325
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Anemia, Splenomegaly ORPHA:667
Atelosteogenesis, Type I
Stillbirth, Short nose, Fused cervical vertebrae, Encephalocele, Vertebral hypoplasia, Neonatal d... OMIM:108720
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Short nose, Prominent nasal tip, Prominent nose, Irregular verte... ORPHA:439822
Tetrasomy 5P
Short nose, Hydrocephalus, Wide anterior fontanel, Anteverted nares, Short neck, Wide nasal bridge ORPHA:3309
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Hemivertebrae, Vertebral clefting, Lobar holoprosencephaly, Wide na... OMIM:614701
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Short nose, Depressed nasal bridge OMIM:614744
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Periventricular Nodular Heterotopia 7
Anteverted nares, Short nose OMIM:617201
Fibrochondrogenesis 2
Platyspondyly, Anteverted nares, Short nose OMIM:614524
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpus... OMIM:617052
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Scoliosis, Wide nasal bridge OMIM:218000
Trisomy 20P
Short nose, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Vertebral segment... ORPHA:261318
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge OMIM:618437
Tetrasomy 18P
Short nose, Scoliosis ORPHA:3307
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta ORPHA:500095
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Bulbous nose, Choanal atresia, Depressed nasal bridge ORPHA:284169
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Scoliosis, Bulbous nose, Depressed nasal bridge OMIM:618430
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Smith-Magenis Syndrome
Short nose, Abnormal form of the vertebral bodies, Anteverted nares, Scoliosis, Delayed eruption ... ORPHA:819
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Short nose, Hydrocephalus, Scoliosis, Hyperlordosis, Underdevelop... OMIM:616007
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Short nose, Depressed nasal bridge ORPHA:93258
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge OMIM:614105
Smith-Kingsmore Syndrome
Wide anterior fontanel, Short nose, Depressed nasal bridge, Umbilical hernia OMIM:616638
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:401935
Femoral-Facial Syndrome
Short nose, Scoliosis, Abnormal sacrum morphology, Vertebral segmentation defect ORPHA:1988
Alg3-Cdg
Abnormality of the nose, Neural tube defect ORPHA:79321
Fibrochondrogenesis 1
Stillbirth, Short nose, Wide anterior fontanel, Anteverted nares, Posterior vertebral hypoplasia,... OMIM:228520
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Scoliosis, Kyphosis, Bulbous nose, Wide nasal bridge, Depressed nasal bridge OMIM:617061
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Obesity, Hypocalcemic tetany, ... ORPHA:79443
Lathosterolosis
Short nose, Meningocele, Anteverted nares, Abnormal thoracic spine morphology, Intrauterine growt... ORPHA:46059
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Short nose, Hydrocephalus, Choanal atresia, Depressed nasal bridge ORPHA:93259
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose OMIM:300887
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Scoliosis, Narrow nasal bridge ORPHA:544503
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Depressed nasal bridge ORPHA:210548
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Hydrocephalus, Scoliosis, Depressed nasal bridge OMIM:618590
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Scoliosis, Kyphosis, Bulbous nose, Depressed nasal bridge ORPHA:261144
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Fetal Alcohol Syndrome
Intrauterine growth retardation, Anteverted nares, Short nose, Vertebral segmentation defect ORPHA:1915
Intellectual Disability-Strabismus Syndrome
Short nose, Narrow nasal ridge, Prominent nose, Intrauterine growth retardation, Short neck, Depr... ORPHA:363528
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Scoliosis, Broad nasal tip, Choanal stenosis, Depressed nasal bridg... OMIM:615485
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Anteverted nares, Short nose, Depressed nasal bridge OMIM:617822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Bulbous nose, Prominent nasal bridge OMIM:613870
Aarskog-Scott Syndrome
Short nose, Anteverted nares, Scoliosis, Testicular atrophy, Hypoplasia of the odontoid process, ... OMIM:305400
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Baraitser-Winter Syndrome 1
Short neck, Short nose, Anteverted nares, Wide nasal bridge OMIM:243310
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short nose, Scoliosis, Thoracic kyphosis, Short neck, Wide nasal bridge OMIM:620250
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Anteverted nares, Intrauterine growth retardation, Bulbous nose, Absent na... ORPHA:261211
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Short nose, Bulbous nose OMIM:616420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypogonadotropic hypogonadism, Anosmia ORPHA:1295
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short nose, Syringomyelia, Low hanging columella, Short neck, Bulbous nose, Wide ... OMIM:615803
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus ... OMIM:600145
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Rhombencephalosynapsis
Hydrocephalus, Anteverted nares, Short nose ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Short nose, Broad nasal tip, Wide nasal bridge OMIM:239300
16P12.1P12.3 Triplication Syndrome
Intrauterine growth retardation, Short nose, Bulbous nose ORPHA:485405
Congenital Disorder Of Glycosylation, Type Il
Short neck, Short nose, Depressed nasal bridge, Kyphosis OMIM:608776
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Ohdo Syndrome
Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge OMIM:249620
20Q11.2 Microduplication Syndrome
Short nose, Sacral dimple, Abnormal nasal bridge morphology, Anteverted nares, Severe intrauterin... ORPHA:363659
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Short nose, Anteverted nares OMIM:601853
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Wide anterior fontanel, Scoliosis, Anteverted nares, Intrauterine growth retardation OMIM:219200
Micro Syndrome
Short nose, Anteverted nares, Scoliosis, Kyphosis, Intrauterine growth retardation, Wide nasal br... ORPHA:2510
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Short nose, Unossified vertebral bodies, Anteverted nares, Hypopl... OMIM:200600
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Wide nose, Hydrocephalus, Anteverted nares, Intrauterine growth retardation, Short ne... OMIM:257300
Pallister-Hall Syndrome
Short nose, Anteverted nares, Hemivertebrae, Choanal atresia, Neonatal death, Holoprosencephaly, ... OMIM:146510
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Fetal Hydantoin Syndrome
Intrauterine growth retardation, Short nose, Depressed nasal ridge ORPHA:1912
Intellectual Developmental Disorder, X-Linked 21
Short nose OMIM:300143
Peho Syndrome
Hydrocephalus, Anteverted nares, Short nose ORPHA:2836
Desmosterolosis
Abnormality of the nose, Short nose, Hydrocephalus, Intrauterine growth retardation, Depressed na... ORPHA:35107
16P13.11 Microdeletion Syndrome
Anteverted nares, Short nose, Holoprosencephaly, Depressed nasal bridge ORPHA:261236
Al-Raqad Syndrome
Short nose OMIM:616459
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Broad columella, Advanced eruption of teeth, Depressed nasal bridge OMIM:617865
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Scoliosis ORPHA:496790
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Natal tooth, Depressed nasal bridge OMIM:617802
Trisomy 18
Short nose, Anencephaly, Choanal atresia, Spina bifida, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
Otopalatodigital Syndrome Type 2
Short nose, Encephalocele, Hydrocephalus, Scoliosis, Myelomeningocele, Abnormal vertebral segment... ORPHA:90652
Malan Syndrome
Short nose, Scoliosis, Advanced eruption of teeth OMIM:614753
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short nose, Anteverted nares, Intrauterine growth retardation, Wide nasal bridge, Underdeveloped ... OMIM:613026
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Sacral dimple, Hydrocephalus, Wide nasal bridge, Short columella OMIM:613603
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose OMIM:615539
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Teebi Hypertelorism Syndrome 1
Short nose, Anteverted nares, Natal tooth, Wide nasal bridge, Depressed nasal bridge OMIM:145420
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Scoliosis, Kyphosis, Intrauterine growth retardation, Narrow nose OMIM:617602
Trisomy 12P
Short neck, Short nose, Wide nasal bridge ORPHA:1699
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Intrauterine growth retardati... ORPHA:2315
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Cervical spinal canal stenosis, Long nose, Sacral dimple, Short nose, Cervical instability, Incre... ORPHA:508533
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Short nose, Depressed nasal bridge ORPHA:1812
Gaucher Disease, Perinatal Lethal
Short nose, Anteverted nares, Neonatal death, Intrauterine growth retardation, Depressed nasal br... OMIM:608013
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 1
Short nose, Scoliosis, Hemivertebrae, Depressed nasal ridge, Prominent nose, Bulbous nose, Short ... OMIM:156200
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose ORPHA:2547
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides OMIM:101800
Marshall-Smith Syndrome
Anteverted nares, Scoliosis, Choanal atresia, Short nose ORPHA:561
Jacobsen Syndrome
Short nose, Hydrocephalus, Anteverted nares, Holoprosencephaly, Intrauterine growth retardation, ... OMIM:147791
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Scoliosis, Prominent nasal bridge, Wide nasal bridge OMIM:619179
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Short nose, Choanal atresia, Depressed nasal bridge ORPHA:93260
Au-Kline Syndrome
Short nose, Syringomyelia, Sacral dimple, Vertebral segmentation defect, Lipomyelomeningocele, Bi... OMIM:616580
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Scoliosis, Short neck, Bulbous nose, Wide nasal bridge OMIM:618571
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Anteverted nares, Scoliosis, Platyspondyly, Intrauterine growth retardation OMIM:612394
Cerebrooculonasal Syndrome
Short nose, Proboscis, Encephalocele, Hydrocephalus, Anteverted nares, Prominent nasal bridge OMIM:605627
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Broad nasal tip, Umbilical hernia, Depressed nasal bridge OMIM:222448
Peho Syndrome
Short nose OMIM:260565
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Low insertion of columella, Anteverted nares, Scoliosis, Underdeveloped nasal alae, K... OMIM:619005
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge ORPHA:93328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Short nose, Congenital kyphoscoliosis, Hydrocephalus... ORPHA:536467
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose OMIM:614261
8P23.1 Microdeletion Syndrome
Short nose, Prominent nasal bridge, Intrauterine growth retardation, Short neck, Wide nasal bridge ORPHA:251071
Non-Distal Duplication 13Q
Short nose ORPHA:1702
Autosomal Recessive Omodysplasia
Anteverted nares, Short nose, Depressed nasal bridge ORPHA:93329
Jaberi-Elahi Syndrome
Short nose, Scoliosis, Depressed nasal bridge, Kyphosis OMIM:617988
Prolidase Deficiency
Concave nasal ridge, Short nose, Depressed nasal bridge OMIM:170100
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Scoliosis, Thoracolumbar scoliosis, Platyspondyly, Short neck, Depressed nasal bridge OMIM:616723
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Anteverted nares, Scoliosis, Short nose, Depressed nasal bridge OMIM:615398
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Syringomyelia, Short nose OMIM:613735
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Short nose, Abnormal vertebral morphology, Hydrocephalus, Wide anterior fontanel, Sco... ORPHA:95699
Opsismodysplasia
Short nose, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Depressed nasal bridge ORPHA:2746
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Short nose, Sacral dimple, Anteverted nares, Umbilical hernia, Depressed nasal br... OMIM:616331
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Short nose, Anteverted nares, Thoracic kyphosis, Lumbar interpedicular narrowing,... OMIM:271510
Pontocerebellar Hypoplasia, Type 2E
Short nose, Scoliosis, Wide nose OMIM:615851
Cenani-Lenz Syndrome
Convex nasal ridge, Short nose, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3258
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose OMIM:618087
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Short nose, Meningocele, Intrauterine growth retardation, Short... ORPHA:2879
Cerebrofaciothoracic Dysplasia
Short nose, Wide nose, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Short neck ORPHA:1394
Desmosterolosis
Hydrocephalus, Anteverted nares, Short nose, Hypoplastic nasal bridge OMIM:602398
Cardiofaciocutaneous Syndrome 1
Short nose, Hydrocephalus, Anteverted nares, Scoliosis, Short neck, Bulbous nose, Depressed nasal... OMIM:115150
Monosomy 9Q22.3
Short nose, Abnormality of the vertebral column, Hydrocephalus, Delayed eruption of teeth, Kyphos... ORPHA:77301
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Short nose, Decreased fertility OMIM:234050
Marshall-Smith Syndrome
Kyphoscoliosis, Short nose, Atlantoaxial dislocation, Hydrocephalus, Anteverted nares, Scoliosis,... OMIM:602535
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Anteverted nares, Short nose, Depressed nasal bridge OMIM:242860
Microphthalmia With Limb Anomalies
Short nose, Flared nostrils, Sacral dimple, Depressed nasal bridge OMIM:206920
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:613038
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Anteverted nares, Scoliosis, Depressed nasal bridge, Prominent nasal bridge, Umbilica... OMIM:618454
Cadds
Intrauterine growth retardation, Short nose ORPHA:369942
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... ORPHA:340
Prader-Willi Syndrome Due To Translocation
Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Anteverted nares, Scoliosis, Pro... ORPHA:177907
Otopalatodigital Syndrome, Type I
Short nose, Scoliosis, Multiple impacted teeth, Wide nasal bridge OMIM:311300
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections ORPHA:3078
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Short nose, Wide nasal bridge, Intrauterine growth retardation OMIM:618005
Robinow Syndrome, Autosomal Recessive 2