Gene Summary

Name:
solute carrier family 20, member 2
Synonyms:
PiT-2,  Ram-1,  Ram1,  Pit-2,  MolPit2

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 spine curvature Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 6.47×10-07
abnormal vocalization Slc20a2tm1b(EUCOMM)Wtsi HET Early adult 2.06×10-05
kyphosis Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 5.58×10-08
abnormal motor coordination/balance Slc20a2tm1b(EUCOMM)Wtsi HET Early adult 8.23×10-06
decreased body length Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 6.26×10-06
abnormal lens morphology Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 9.04×10-13
eyelids fail to open Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 5.40×10-05
absent pinna reflex Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-06
abnormal auditory brainstem response Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 0.0277
increased total body fat amount Slc20a2tm1b(EUCOMM)Wtsi HET Early adult 4.40×10-05
impaired glucose tolerance Slc20a2tm1b(EUCOMM)Wtsi HET   Early adult 2.16×10-05
cataract Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 9.04×10-13
increased circulating magnesium level Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 7.89×10-05
increased circulating alkaline phosphatase level Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 6.48×10-08
decreased bone mineral density Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 7.14×10-06
irregularly shaped pupil Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 1.23×10-05
preweaning lethality, incomplete penetrance Slc20a2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00799
narrow eye opening Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 1.12×10-05
abnormal incisor color Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 2.26×10-11
increased grip strength Slc20a2tm1a(EUCOMM)Wtsi HET Early adult 1.96×10-06
abnormal iris morphology Slc20a2tm1a(EUCOMM)Wtsi HOM Early adult 3.71×10-09
decreased bone mineral content Slc20a2tm1a(EUCOMM)Wtsi HOM   Early adult 7.24×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote Not available
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parotid gland  Wholemount images heterozygote 0.0% (0 of 2)
Penis  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

38 Images

Histopathology

Images

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

X-ray

XRay Images Forepaw

24 Images

X-ray

XRay Images Skull Lateral Orientation

26 Images

Legacy Phenotype Associated Images

View all 180 images

View all 44 images

Human diseases caused by Slc20a2 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 Slc20a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Basal Ganglia Calcification, Idiopathic, 1
Abnormal circulating calcium concentration, Athetosis, Tremor, Dystonia OMIM:213600
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980

The table below shows human diseases predicted to be associated to Slc20a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epicanthus, Cataract, Micrognathia, Epiphyseal stippling, High palate, Downslanted palpebral fiss... OMIM:614882
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Abnormal... ORPHA:101082
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Sensorineural hearing impairment, Optic atrophy, Upslanted palpebral fissure, Iris cy... OMIM:620086
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Winchester Syndrome
Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteoly... OMIM:277950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis, Osteoporosis, Microc... ORPHA:48431
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... ORPHA:236
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment OMIM:274205
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Epicanthus, Cataract ORPHA:85288
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Short neck, Abnormality iri... ORPHA:1617
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... ORPHA:582
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Usher Syndrome Type 2
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... ORPHA:231178
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Kyphoscoliosis, Malar flattening, High, narrow palate, Hypermobility of interphalangeal... ORPHA:3433
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Mucopolysaccharidosis, Type Iva
Joint laxity, Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasi... OMIM:253000
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... OMIM:136300
Myopathy, Tubular Aggregate, 1
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... OMIM:160565
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment OMIM:165300
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Kyphosis, Reduced bone mineral density, Delayed ossification ... OMIM:618392
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Spastic Paraparesis And Deafness
Tremor, Cataract, Hearing impairment OMIM:312910
Short Syndrome
Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormali... ORPHA:3163
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyp... OMIM:617404
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Joint hyperflexibility, Ptosis ORPHA:1875
Mucopolysaccharidosis, Type Ivb
Joint laxity, Mandibular prognathia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Join... OMIM:253010
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Ck Syndrome
Epicanthus, Dental crowding, Posteriorly rotated ears, Hyperlordosis, Almond-shaped palpebral fis... OMIM:300831
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco... OMIM:601382
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Hy... OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ... OMIM:615761
Rubinstein-Taybi Syndrome 2
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c... OMIM:613684
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent me... OMIM:300602
Microphthalmia, Syndromic 13
Kyphoscoliosis, Anteverted ears, Widely-spaced incisors, Microcornea, Chorioretinal coloboma, Iri... OMIM:300915
Hereditary Fructose Intolerance
Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Micrognathia, Sensorineur... OMIM:215100
Distal Deletion 6P
Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, O... ORPHA:96125
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sens... OMIM:109120
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Epicanthus, Micrognathia, Kyphosis, Sensorineural hearing impairment, P... ORPHA:2479
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty... ORPHA:2635
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Thick vermilion border,... OMIM:612713
Oculoskeletodental Syndrome
Hypercalcemia, Dysplastic corpus callosum, Abnormal thalamus morphology, Hypocalcemia ORPHA:557003
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Joint contracture, High palate, Scoliosis OMIM:611225
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, High palate, Narrow mouth, Retrog... ORPHA:2528
Hypomelanosis Of Ito
Epicanthus, Cataract, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis, I... OMIM:300337
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... OMIM:609384
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Acrootoocular Syndrome
Delayed eruption of teeth, Epicanthus, Kyphoscoliosis, Micrognathia, Grayish enamel, High, narrow... ORPHA:2980
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Sensorineural hearing impairment, Prelingual sensorineural hea... ORPHA:436174
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... ORPHA:166108
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Short neck, Open bit... ORPHA:61
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Hall-Riggs Syndrome
Epicanthus, Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Irre... OMIM:234250
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Cataract, Abnormal de... ORPHA:2791
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Hi... OMIM:617523
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Woolly Hair
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow ORPHA:170
Usher Syndrome
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin... ORPHA:886
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Cataract, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary central... OMIM:608227
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Optic atrophy, Ectopi... OMIM:618727
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, EEG with focal spike waves, Posteriorl... OMIM:619229
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, EEG abnormality, Yellow-brown dis... ORPHA:1946
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ... OMIM:193700
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Achilles tendon contracture, Dental malocclusion,... OMIM:619719
Duane Retraction Syndrome
Central heterochromia, Short neck, Micrognathia, Abnormal pupil morphology, Abnormal form of the ... ORPHA:233
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Irregular dentition, Optic disc pallor, Cataract, Abnormal auditory evoked potent... OMIM:619260
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, ... OMIM:277720
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Elevated circulating pristanic acid concentration OMIM:613724
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Epicanthus, Posteriorly rotated ears, Cleft palate, Thin vermilion border, Long ey... OMIM:615502
Lowry-Maclean Syndrome
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:2409
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bone... ORPHA:2617
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Conductive hearing impairment, Abnormality of dental color, Aplasia/... ORPHA:1006
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Upslante... OMIM:615834
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... OMIM:609115
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb... OMIM:600175
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral... OMIM:271530
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the l... ORPHA:85194
Linear Verrucous Nevus Syndrome
Astrocytoma, Hypophosphatemia ORPHA:2611
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Short neck, Micrognathia, Kyphosis, Facial diplegia, High palate, Scoliosis, Low-set ea... OMIM:611890
Proteus-Like Syndrome
Mandibular prognathia, Cataract, Open bite, Abnormal pupil morphology, Hyperostosis, Limbal dermo... ORPHA:2969
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Kyphosis, Syno... ORPHA:2471
Baralle-Macken Syndrome
Cataract, Kyphosis, High, narrow palate, Upslanted palpebral fissure, Dystonia OMIM:619255
Isolated Ectopia Lentis
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae, Malar flattening ORPHA:1885
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Bethlem Myopathy 2
Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxity, Flexion contra... OMIM:616471
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck ORPHA:2744
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia ORPHA:89937
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Schwartz-Jampel Syndrome, Type 1
Elevated circulating creatine kinase concentration, Cervical kyphosis, Short neck, Micrognathia, ... OMIM:255800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis OMIM:175500
Porphyria, Congenital Erythropoietic
Osteopenia, Absent eyebrow, Erythrodontia, Loss of eyelashes, Osteolysis, Corneal scarring, Conju... OMIM:263700
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the an... ORPHA:2489
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Accessory oral frenulum, Ptosis ORPHA:1373
Combined Oxidative Phosphorylation Deficiency 55
Epicanthus, Elevated circulating creatine kinase concentration, Hypomagnesemia, Bilateral ptosis,... OMIM:619743
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, S... OMIM:615704
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Chorioretinal dystrophy, Micrognathia, H... OMIM:216550
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... OMIM:618323
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Kenny-Caffey Syndrome, Type 1
Carious teeth, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis OMIM:244460
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Kyphosis, Thick lower lip ver... OMIM:619797
Adenohypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95512
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip a... ORPHA:1473
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Panhypophysitis
Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... ORPHA:95513
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Astigmatism, Widely... OMIM:618067
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Thin upper lip vermilion, Cataract, Highly arched eyebrow, Long philtrum, Macrotia, Ptosis OMIM:616154
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Woolly Hair Nevus
Widely-spaced incisors, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary ... ORPHA:79414
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Flynn-Aird Syndrome
Cataract, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, EEG abnormality, Scoliosis, Progre... ORPHA:2047
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcorn... ORPHA:3374
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... ORPHA:37553
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Flexion contracture ... ORPHA:2712
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morph... ORPHA:1764
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abn... ORPHA:534
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Wagr Syndrome
Cataract, Micrognathia, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Scoliosis, P... ORPHA:893
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Short philtrum,... ORPHA:2429
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Mandibular prognathia, Uplifted earlobe, Kyphosis, Narrow palate, Short upper lip, ... ORPHA:364028
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Nance-Horan Syndrome
Diastema, Macrotia, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cata... OMIM:302350
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Downslanted palpebral fissures, An... ORPHA:276630
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Narrow palpebral fissure, EEG abnormality, Scoliosis, B... OMIM:301900
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Cataract, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip... ORPHA:177
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Alagille Syndrome
Keratoconus, Corneal dystrophy, Micrognathia, Abnormal pupil morphology, Abnormal form of the ver... ORPHA:52
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Filippi Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Microdontia, Serrated... OMIM:272440
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Cataract, Foot joint contracture, Del... ORPHA:90321
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Focal T2 hyperintense... OMIM:619046
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Highly arched eyebrow, Micrognathia, Bilateral ptosis, Kyphosis, Retrognathia, Upslan... ORPHA:352490
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Cataract, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth... OMIM:616108
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Jalili Syndrome
Abnormality of dental color, Optic atrophy, Abnormal dental enamel morphology, Amelogenesis imper... ORPHA:1873
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Delayed proximal ... ORPHA:93296
Orthostatic Hypotension 1
Orthostatic hypotension, Increased blood urea nitrogen, High palate, Hypomagnesemia, Joint hyperm... OMIM:223360
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Kyphosis, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment ORPHA:101075
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Kypho... ORPHA:137834
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Cataract, Increased bone mineral density, Ovoid vertebral bodies, Short neck, Microgn... ORPHA:163649
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp... ORPHA:75840
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Deep philtrum, Multifocal epileptiform discharges, Thick vermilion border, E... ORPHA:505652
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Micrognathia, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Widel... OMIM:619694
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Zimmermann-Laband Syndrome 3
Kyphosis, Synophrys, Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, Long ey... OMIM:618658
Uruguay Faciocardiomusculoskeletal Syndrome
Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Lim... OMIM:300280
Marshall Syndrome
Epicanthus, Cataract, Malar flattening, Lens luxation, Micrognathia, Absent frontal sinuses, Sens... OMIM:154780
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Scoliosis, Hearing impairment OMIM:617087
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hypernatremia, Neonata... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Hypernatremia, Neonata... ORPHA:529799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Peters anomaly, Cl... OMIM:613150
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Optic a... OMIM:605282
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment OMIM:120433
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Spinocerebellar Ataxia With Epilepsy
Hyperalaninemia, Focal T2 hyperintense thalamic lesion ORPHA:254881
Arthrogryposis, Distal, Type 5
Keratoconus, Epicanthus, Limited wrist extension, Kyphosis, Protruding ear, Keratoglobus, Astigma... OMIM:108145
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Sialidosis Type 2
Corneal opacity, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Hearing impairment ORPHA:87876
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Cataract, Carious teeth, Hemive... ORPHA:377
Autosomal Recessive Stickler Syndrome
Cataract, Micrognathia, Sensorineural hearing impairment, Cleft palate, Irregular vertebral endpl... ORPHA:250984
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Codas Syndrome
Delayed eruption of teeth, Epicanthus, Cataract, Abnormal dental morphology, Abnormal dental enam... ORPHA:1458
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... OMIM:602400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... OMIM:106210
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... ORPHA:666
Gm1-Gangliosidosis, Type Iii
Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification... OMIM:230650
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Micrognathia, Short neck, Kyphosis, High palate, Low-set ears, Camptoda... OMIM:618393
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis, Hearing impairment ORPHA:101078
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cataract, Kyphoscoliosis, Micrognathia, Carious teeth, Sensorineural h... OMIM:214150
Gitelman Syndrome
Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Tinnitus ORPHA:358
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Epicanthus, Cataract, Increased bone mineral density, Facial palsy, Po... ORPHA:2780
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scolio... OMIM:252605
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Epicanthus, Scoliosis OMIM:300434
Hepatoerythropoietic Porphyria
Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Loss of eyelashes, Osteo... ORPHA:95159
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Mic... OMIM:620157
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Prune1-Related Neurological Syndrome
Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, EEG ab... ORPHA:544469
Renpenning Syndrome
Mandibular prognathia, Epicanthus, Cataract, Macrodontia, Joint stiffness, High, narrow palate, S... ORPHA:3242
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermilion, Exaggerated startl... ORPHA:438216
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia ORPHA:251393
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials,... OMIM:125250
Microphthalmia, Lenz Type
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Cataract, Abnormal dental morpholog... ORPHA:568
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... OMIM:602482
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Cataract, Hypoplasia of the odontoid process, Platyspondyly, Ma... ORPHA:85172
East Syndrome
Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,... ORPHA:199343
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Cataract, Micrognathia, Hyperlordosis, Furrowed tongue, Abnorm... ORPHA:1387
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation, Nonketotic hyperglycinemia, Hepatosplenome... ORPHA:135
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Kyphosis, Synophrys, Cleft palate, Protruding ear, Short philtrum, Scoliosis ORPHA:85317
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Hearing impairment, Kyphosis, Flexion c... ORPHA:90322
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis ORPHA:2598
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Gliosis ORPHA:88619
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Corneal opacity, Chorioret... OMIM:152950
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Synophrys, Deep philtrum, Sensorineural hearing impairment, Gingival overgr... OMIM:616455
Cerebellofaciodental Syndrome
Cataract, Short neck, Sparse eyebrow, Dental malocclusion, Taurodontia, Scoliosis, Low-set ears, ... OMIM:616202
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Kyphosis, Hand tremor, Scoliosis, Head tremor, Hearing impairment OMIM:614409
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating ... OMIM:270800
Jalili Syndrome
Carious teeth, Optic disc pallor, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft pala... ORPHA:90653
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspondyly, ... OMIM:618958
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, High palate, Sc... ORPHA:178148
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Zimmermann-Laband Syndrome
Telecanthus, Cataract, Joint hypermobility, Short neck, Micrognathia, Supernumerary tooth, Sensor... ORPHA:3473
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Corneal erosion, Scoliosis ORPHA:816
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Congenital foot contra... OMIM:314580
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Mi... OMIM:222765
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Epicanthus, Narrow mouth, Sensorineural hearing impairment, Spina bifi... OMIM:235510
Alg2-Cdg
Epicanthus, Cataract, Hypsarrhythmia, Downslanted palpebral fissures, Iris coloboma ORPHA:79326
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Scoliosis, Dystonia OMIM:616756
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Narrow palate, Cleft pala... OMIM:618223
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Stickler Syndrome, Type I
Cataract, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate, P... OMIM:108300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ach... OMIM:615290
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Cerebellar-Facial-Dental Syndrome
Cataract, Foot joint contracture, Short neck, Sparse eyebrow, Micrognathia, Dental malocclusion, ... ORPHA:444072
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Micrognathia, EEG abnormality, Downslanted palpebral fissures ORPHA:3173
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
4Q21 Microdeletion Syndrome
Hearing impairment, Short neck, Abnormality of the dentition, Kyphosis, Synophrys, Tremor, Downtu... ORPHA:238750
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Neuhauser Syndrome
Osteopenia, Iridodonesis, Epicanthus, Micrognathia, Cupped ear, Hypoplasia of the iris, Large fle... OMIM:249310
Alexander Disease
Microcoria OMIM:203450
Congenital Erythropoietic Porphyria
Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Loss of eyelashes, Osteo... ORPHA:79277
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, EEG abnormali... ORPHA:1858
Urban-Rogers-Meyer Syndrome
Epicanthus, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, Short neck... ORPHA:3409
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens... OMIM:617306
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Long philtrum,... OMIM:615877
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Kyphosis, Sensorineural hearing i... ORPHA:812
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Jaberi-Elahi Syndrome
Cataract, Sparse eyelashes, Dystonia, Joint stiffness, Sparse eyebrow, Kyphosis, Tremor, Optic at... OMIM:617988
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Mend Syndrome
Telecanthus, Sacral dimple, Cataract, Abnormal auditory evoked potentials, Micrognathia, Asymmetr... ORPHA:401973
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnorm... ORPHA:35173
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Fountain Syndrome
Craniofacial hyperostosis, Epicanthus, Coarse metaphyseal trabecularization, Kyphosis, Synophrys,... ORPHA:3219
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Kyphosis, Sensorineural hearing impairment, Orofacial cleft, Macr... ORPHA:79107
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Ptosis ORPHA:3454
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Trisomy 13
Cataract, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Kyphosis, ... ORPHA:3378
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Micrognathia, Short neck, Downturned corners of mouth, Platyspondyly, Short philtrum, L... ORPHA:93267
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Conducti... ORPHA:2710
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital s... ORPHA:45358
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Synophrys, Reduced bone mineral density,... ORPHA:2983
Frontonasal Dysplasia 1
Epicanthus, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, W... OMIM:136760
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Epicanthus, Cataract, Sensorineural hearing impairment, Hypsarrhythmia, Upslanted p... OMIM:607906
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short neck, Diap... ORPHA:94089
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Short neck, Camptodac... ORPHA:284160
Autosomal Recessive Spastic Paraplegia Type 77
Ptosis, Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Macrodontia of permanent maxillary central... ORPHA:466722
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Cleft palate, Platyspon... ORPHA:1856
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee... OMIM:313420
Usher Syndrome Type 1
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:231169
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... ORPHA:193
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Short neck, Micrognathia, Kyphosis, Scoliosis, Mic... ORPHA:3191
Myofibrillar Myopathy 10
Mandibular prognathia, Elevated circulating creatine kinase concentration, Ankle flexion contract... OMIM:619040
Spinocerebellar Ataxia, Autosomal Recessive 8
Hearing impairment, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scolio... OMIM:610743
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... OMIM:616788
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Optic atrophy, Dystonia, Hearing impairment OMIM:618237
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi... OMIM:310600
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Cleft upper lip, Sensorineural... OMIM:607371
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Cataract, Short neck, Osteoporosis, Enamel hypoplasia OMIM:612463
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Cataract, Abnormal dental enamel morphology, Abnormality of the den... ORPHA:96169
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Hearing impairment ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... OMIM:601455
Autosomal Dominant Hypocalcemia
Writer's cramp, Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hyp... ORPHA:428
Kleefstra Syndrome 2
Kyphosis, Everted lower lip vermilion, Scoliosis, Bifid uvula, Thick eyebrow OMIM:617768
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Non-midline cleft lip, Upper eyelid co... ORPHA:1791
Autosomal Recessive Spastic Paraplegia Type 53
Limb dystonia, Kyphosis, Hearing impairment, Joint hyperflexibility ORPHA:319199
Distal Duplication 6P
Sacral dimple, Cataract, Short neck, Abnormal eyelash morphology, Micrognathia, Aplasia/Hypoplasi... ORPHA:1745
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Cataract, Hypsarrhythmia, Upslanted palpebral fissure, Wide mouth, Wide... OMIM:619877
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrotia, Maxi... ORPHA:1193
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Astigmatism, Hypomagnesemia OMIM:248190
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Cataract, Osteomyelitis, Sensorine... OMIM:162400
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, High palate, Wi... ORPHA:192
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Short neck, Craniosynostosis, Abnormality of the dentition, Deep philtrum... ORPHA:251038
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Stickler Syndrome, Type Ii
Cataract, Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin seque... OMIM:604841
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Abnormal pinna morphology, Kyphoscoliosis, Short neck, Sparse eyebrow... OMIM:302960
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyph... OMIM:618443
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Kniest Dysplasia
Short neck, Delayed epiphyseal ossification, Aplasia/Hypoplasia of the lens, Hypoplasia of the od... ORPHA:485
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype... ORPHA:94093
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Cataract, Joint stiffness, Osteoarthritis, Platyspondyly ORPHA:1345
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation ORPHA:300570
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cataract, Elevated circulating creatine kinase concentration, Optic nerve h... ORPHA:370959
Autoimmune Hypoparathyroidism
Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca... ORPHA:36913
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:163937
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... OMIM:180500
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Low-set ears, Scoliosis, Ptosis OMIM:619527
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Dystonia 1, Torsion, Autosomal Dominant