Gene Summary

Name:
SPARC related modular calcium binding 1
Synonyms:
SPARC-related protein,  2600002F22Rik,  SRG

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
increased neutrophil cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 5.38×10-09
abnormal snout morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.12×10-09
abnormal gait Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 8.94×10-07
increased heart weight Smoc1tm1b(EUCOMM)Wtsi HET Early adult 4.83×10-09
abnormal maxilla morphology Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 3.88×10-05
abnormal cranium morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.68×10-08
abnormal head size Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 4.29×10-08
decreased lymphocyte cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 1.51×10-05
abnormal pelvic girdle bone morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.50×10-06
increased neutrophil cell number Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 2.69×10-05
preweaning lethality, incomplete penetrance Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
syndactyly Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 3.47×10-09
increased basophil cell number Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 1.14×10-06
short tibia Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased large unstained cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 2.61×10-07
increased red blood cell distribution width Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 4.30×10-05
decreased circulating iron level Smoc1tm1b(EUCOMM)Wtsi HET Early adult 6.74×10-05
abnormal maxilla morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 2.18×10-08
abnormal digit morphology Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 2.97×10-10
abnormal coat/hair pigmentation Smoc1tm1a(EUCOMM)Wtsi HET Early adult 2.22×10-06
decreased erythrocyte cell number Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 6.46×10-05
decreased lymphocyte cell number Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 6.82×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images homozygote 100% (1 of 1)
Aorta  Wholemount images homozygote 100% (1 of 1)
Brain  Wholemount images heterozygote 100% (1 of 1)
Brain  Wholemount images homozygote 100% (1 of 1)
Brown adipose tissue  Wholemount images homozygote 100% (1 of 1)
Cartilage tissue  Wholemount images heterozygote 100% (1 of 1)
Cartilage tissue  Wholemount images homozygote 100% (1 of 1)
Gall bladder  Wholemount images heterozygote 100% (1 of 1)
Large intestine  Wholemount images heterozygote 100% (1 of 1)
Lower urinary tract  Wholemount images heterozygote 100% (1 of 1)
Mammary gland  Wholemount images homozygote 100% (1 of 1)
Olfactory lobe  Wholemount images heterozygote 100% (1 of 1)
Olfactory lobe  Wholemount images homozygote 100% (1 of 1)
Pancreas  Wholemount images heterozygote 100% (1 of 1)
Small intestine  Wholemount images heterozygote 100% (1 of 1)
Testis  Wholemount images heterozygote 100% (1 of 1)
Thyroid gland  Wholemount images heterozygote 100% (1 of 1)
Uterus  Wholemount images homozygote 100% (1 of 1)
Vascular system  Wholemount images homozygote 100% (1 of 1)
White adipose tissue  Wholemount images homozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 100% (1 of 1)
Aorta N/A heterozygote 100% (1 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Bone N/A homozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brainstem N/A homozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 100% (1 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A homozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A homozygote Ambiguous
Esophagus N/A heterozygote 0.0% (0 of 1)
Esophagus N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A homozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A homozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Kidney N/A homozygote 0.0% (0 of 1)
Large intestine N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lower urinary tract N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Lymph node N/A homozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A homozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Ovary N/A homozygote 0.0% (0 of 1)
Oviduct N/A heterozygote Not available
Oviduct N/A homozygote 0.0% (0 of 1)
Pancreas N/A homozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A homozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A homozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A homozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A homozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A homozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Small intestine N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Stomach N/A homozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Striatum N/A homozygote Ambiguous
Testis N/A homozygote Not available
Thymus N/A heterozygote 0.0% (0 of 1)
Thymus N/A homozygote 0.0% (0 of 1)
Thyroid gland N/A homozygote 0.0% (0 of 1)
Trachea N/A heterozygote Ambiguous
Trachea N/A homozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 100% (1 of 1)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
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.

Echo

M-Mode Images

44 Images

Adult LacZ

LacZ Images Wholemount

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Smoc1 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 Smoc1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Smoc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Brachydactyly Type A4
Talipes equinovarus, Symphalangism affecting the phalanges of the hand, Short middle phalanx of t... ORPHA:93394
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Cleft palate, Recurrent patellar dislocation, Genu valgum, Macular coloboma, Coxa ... OMIM:216800
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia, Coxa valga OMIM:613618
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus OMIM:227000
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Microphthalmia With Limb Anomalies
Cleft palate, Talipes equinovarus, Postnatal growth retardation, Toe syndactyly, Tibial bowing, H... OMIM:206920
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Short stature, Bone spicule pigmentation of the retina, ... OMIM:618889
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Hand oligodactyly, Pierre-Robin sequence OMIM:172880
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Talipes equinovarus, Rocker bottom foot, Joint con... OMIM:614335
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Ectrodactyly-Cleft Palate Syndrome
Cleft palate, Split hand OMIM:129830
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Syngnathia
Cleft palate OMIM:119550
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Multiple Synostoses Syndrome 3
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... OMIM:612961
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Narrow greater sciatic notch, Rhizomelia, Meta... OMIM:608940
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Broad palm, Short stature, Narrow pelvis b... ORPHA:79106
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Immunodeficiency 40
Lymphopenia OMIM:616433
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Orofaciodigital Syndrome Ix
Toe syndactyly, High palate, Cleft palate, Retinal coloboma, Accessory oral frenulum, Microcephal... OMIM:258865
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses... OMIM:601560
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly,... OMIM:610023
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Split-Hand/Foot Malformation 1
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... OMIM:183600
Pelvis-Shoulder Dysplasia
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Microglossia, F... ORPHA:2839
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Talipes, Neonatal death, Microglossia, Fibular hypoplasi... OMIM:227270
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Exaggerated cupid's bow, Cle... OMIM:260150
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Short stature, Rhizomelia, Fibular hypoplasi... ORPHA:166016
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentit... ORPHA:3104
Shox-Related Short Stature
Micrognathia, Tibial bowing, High palate, Short stature, Lower limb undergrowth, Cubitus valgus, ... ORPHA:314795
Osebold-Remondini Syndrome
Tarsal synostosis, Short stature, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydacty... OMIM:112910
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormality of the lower limb, Abnormality of skin pigmen... OMIM:300244
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, ... OMIM:616570
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis ... ORPHA:1106
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Microcephaly, Clinodactyly, Delayed puberty, Brachyda... OMIM:233270
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Radial club hand, Microglossia, Fibular hypoplasia, Short 5th fi... ORPHA:1972
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Temtamy Syndrome
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Chorioretinal co... ORPHA:1777
Otodental Syndrome
Carious teeth, Lens coloboma, Pulp calcification, Microphthalmia, Retinal coloboma, Long philtrum... ORPHA:2791
Immunodeficiency 8
Lymphopenia OMIM:615401
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Humero-Radial Synostosis
Tarsal synostosis, Meningocele, Chorioretinal coloboma, Elbow ankylosis, Aplasia/Hypoplasia of th... ORPHA:3265
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Toe syndactyly, Cleft palate, Chorioretinal coloboma, Ulnar deviation... ORPHA:921
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Or... OMIM:611638
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Long philtrum, Cleft ... ORPHA:2756
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Cousin Syndrome
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... OMIM:260660
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Blount Disease
Tibial bowing, Abnormality of the knee, Osteochondrosis, Abnormality of the proximal tibial epiph... ORPHA:2768
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Median... DECIPHER:46
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Cleft palate, Split foot, Split hand OMIM:183700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior ... ORPHA:1473
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Short statur... OMIM:201170
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand polydactyly, Finger ... ORPHA:2935
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Short philtrum, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal co... ORPHA:228384
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Retinal degeneration, Short stature, Rh... OMIM:602271
Bardet-Biedl Syndrome 4
Retinal degeneration, Polydactyly, Obesity, Rod-cone dystrophy, Syndactyly, Abnormality of the de... OMIM:615982
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Talipes equinovarus OMIM:181400
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Hypomelanosis Of Ito
Thick lower lip vermilion, Cerebral atrophy, Iris coloboma, Radial deviation of finger, Irregular... OMIM:300337
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Adducted thumb, Talipes equinovarus, Rocker bottom foot, Shoulder flex... OMIM:619110
Seckel Syndrome 1
Cleft palate, Pes planus, Abnormally large globe, 11 pairs of ribs, Postnatal growth retardation,... OMIM:210600
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... ORPHA:2712
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Short stature, Fibular hypoplasia, Postaxial oligodactyly, ... OMIM:608571
Langer Mesomelic Dysplasia
Abnormality of the ulna, High palate, Ulnar deviation of finger, Abnormality of epiphysis morphol... ORPHA:2632
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Pes cavus, High palate, Talipes equinovarus OMIM:617336
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Septooptic Dysplasia
Polydactyly, Short stature, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis... OMIM:182230
Aase-Smith Syndrome
Cleft palate, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Slender finger, Camptodactyl... ORPHA:916
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Micrognathia, Talipes equinovarus, Hammertoe, Short stature, Deep philtrum, ... OMIM:158300
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Metaphyseal dysplasia, Cranial nerve compression OMIM:250450
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Gordon Syndrome
Cleft palate, High palate, Talipes, Finger syndactyly, Camptodactyly of finger, Clinodactyly of t... ORPHA:376
Atelosteogenesis, Type Iii
Knee dislocation, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Micrognathia, ... OMIM:108721
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Hyperpigmented nevi, Cle... OMIM:607597
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Externally rotated hips, Overlapping fingers, Talipes equinovarus OMIM:616531
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly OMIM:615983
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Kapur-Toriello Syndrome
Cleft palate, Intrauterine growth retardation, Microphthalmia, Retinal coloboma, Cleft upper lip,... OMIM:244300
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Eiken Syndrome
Short middle phalanx of finger, Short stature, Oligodontia, Pseudoepiphyses, Long hallux, Type A1... OMIM:600002
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea OMIM:615147
Sprengel Deformity
Shoulder muscle hypoplasia, Cleft palate, Abnormality of the shoulder girdle musculature, Abnorma... ORPHA:3181
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Micrognathia, Short 5th metacarpal, Short stature, Anophthalmia, Finger syndactyl... ORPHA:264200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Bresek Syndrome
Aganglionic megacolon, Cleft palate, Intrauterine growth retardation, Microphthalmia, Optic nerve... ORPHA:85284
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmi... ORPHA:139471
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Cleft palate, Aplas... ORPHA:3320
Weismann-Netter Syndrome
Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormality of femur morphology, Bowing o... ORPHA:3344
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Abnormality of retinal pigmentation, Intrauterine growth retardation, Short ... ORPHA:2515
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Malar flattening, ... OMIM:118651
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Polydactyly, Small for gestational age, Stillbirth, Syndactyly, Upper limb phocomel... ORPHA:294975
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Moderate Multiminicore Disease With Hand Involvement
Knee dislocation, Recurrent patellar dislocation, Talipes equinovarus, Facial palsy, Intrinsic ha... ORPHA:178145
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Bardet-Biedl Syndrome 6
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity OMIM:605231
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Micro... OMIM:612447
2Q24 Microdeletion Syndrome
Toe syndactyly, Cleft palate, Microphthalmia, Growth delay, Short philtrum, Small for gestational... ORPHA:1617
Orofaciodigital Syndrome X
Fibular aplasia, Cleft palate, Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand poly... OMIM:165590
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Fla... ORPHA:1427
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Smooth philtrum, High palate, Dental crowding, Pes planus, Macular degeneration, Thin upper lip v... OMIM:612948
Eem Syndrome
Carious teeth, Widely spaced teeth, Abnormality of retinal pigmentation, Microdontia, Macular dys... ORPHA:1897
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Micrognathia, Intrauterine growth retardation... ORPHA:1466
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Abnormal de... OMIM:601559
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... ORPHA:3329
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Facial palsy, Retinal coloboma OMIM:107550
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Kahrizi Syndrome
Thick lower lip vermilion, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contr... OMIM:612713
Blount Disease, Adolescent
Osteochondritis Dissecans, Genu varum, Bowing of the legs OMIM:259200
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus OMIM:619501
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Metaphyseal Dysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Metaphyseal sclerosi... OMIM:250400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... OMIM:210720
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death, Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius,... OMIM:601376
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Curry-Jones Syndrome
Hypopigmented skin patches, Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Intesti... ORPHA:1553
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Hydrocephalus With Associated Malformations
Short lower limbs, Abnormal foot morphology, Tibial bowing, Intrauterine growth retardation, Micr... OMIM:236640
Intellectual Disability-Cataracts-Kyphosis Syndrome
Knee flexion contracture, Iris coloboma, Cataract, Thick vermilion border, Elbow flexion contracture ORPHA:171860
Squalene Synthase Deficiency
2-3 toe syndactyly, Micrognathia, Intrauterine growth retardation, Failure to thrive in infancy, ... OMIM:618156
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, 11 pa... OMIM:108720
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Short stature, Short 2nd metacarpal, Aplasia/Hypoplasia of the thumb, Phocomelia, Mes... OMIM:171480
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Hypoplasia of the corpus callosum, Talipes equinovarus OMIM:613162
Langer Mesomelic Dysplasia
Mesomelic short stature, Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesom... OMIM:249700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cleft palate, Talipes equinovarus, Short stature, Hamartoma of tongue, Short ribs, ... OMIM:613091
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Short stature, Abnormality of the elbow, Abnormality of the philtrum, Finger syndactyly, Abnormal... ORPHA:3268
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy, Talipes equinovarus, Cerebral atrophy, Microcephaly OMIM:614255
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Neuropathy, Hereditary Motor, With Myopathic Features
Talipes equinovarus, Pes cavus, Proximal muscle weakness in upper limbs, Tongue fasciculations, S... OMIM:619216
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Genu varum, Tibial bowing, Radial bowing, Small epiphyses, Flared iliac wing... OMIM:602111
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Cleft palate, Short stature, Short metatarsal, Short ribs, Postnata... OMIM:304120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Mesomelic Limb Shortening And Bowing
Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip, Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Growth delay, Enlargement of the wrists, Bowing of the legs, Failu... OMIM:600081
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Acropectorovertebral Dysplasia
Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... ORPHA:957
Cat-Eye Syndrome
Intrauterine growth retardation, Chorioretinal coloboma, Microphthalmia, Anal atresia, Iris colob... ORPHA:195
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip, Hip dislocation, Hand polydactyly, Limb duplication OMIM:223200
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Failure to thrive, Sandal gap, Abnorma... ORPHA:217340
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Filippi Syndrome
Optic atrophy, Hypodontia, Intrauterine growth retardation, Microdontia, Short philtrum, Thin ver... OMIM:272440
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Mental Retardation, X-Linked 91
High palate, Cubitus valgus, Small hand, Short 5th finger, Short foot, Obesity, Clinodactyly, Mac... OMIM:300577
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Widely spaced teeth, Microdontia, Macular dystrophy, Joint contracture of the hand, Split hand, S... OMIM:225280
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Hyperreflexia
Abnormality of retinal pigmentation, Ankle clonus, Microcephaly OMIM:145290
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... OMIM:612109
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Peripheral axonal neuropathy, Short stature, Hammertoe, Pigmentary retinopathy, Cerebral atrophy,... OMIM:619090
Bardet-Biedl Syndrome 21
Hypodontia, Hypoplasia of the fovea, Obesity, Retinal thinning, Hyperautofluorescent macular lesi... OMIM:617406
Immunodeficiency 19
Lymphopenia OMIM:615617
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Tibial bowing, Fibular bowing, Bowing of the long bones, Metaphyseal irregularity, De... OMIM:600785
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation ORPHA:2196
Stromme Syndrome
Micrognathia, Cleft palate, Microphthalmia, Duodenal atresia, Wide mouth, Sclerocornea, Optic ner... OMIM:243605
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Micrognathia, Chorioretinal coloboma, Long philtrum, Optic nerve hypoplasia, Catar... ORPHA:163937
Arthrogryposis, Distal, Type 2E
Joint contractures involving the joints of the feet, Narrow mouth, Joint contracture of the hand,... OMIM:121070
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Overlapping fingers, Talipes equinovarus, Camptodactyly OMIM:618436
Steinfeld Syndrome
Microphthalmia, Median cleft lip and palate, Aplasia/Hypoplasia of the thumb, Retinal coloboma, P... OMIM:184705
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Hip osteoarthritis, Abnormal epiphysis morphology of the phala... OMIM:619248
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Pseudodiastrophic Dysplasia
Elbow dislocation, Rhizomelia, Phalangeal dislocation, Talipes equinovarus ORPHA:85174
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Talipes equinovarus, Hypoplasi... OMIM:615035
Linear Verrucous Nevus Syndrome
Dandy-Walker malformation, Toe syndactyly, Talipes, Genu recurvatum, Iris coloboma, Short metacar... ORPHA:2611
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Abnormality of the knee, Talipes equinovarus, Pierre-Robin sequence, Prominent calc... ORPHA:251028
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Pes planus, Hypoplasia of the radius, Iris coloboma, Synda... OMIM:607323
Chromosome 2P16.1-P15 Deletion Syndrome
Metatarsus adductus, Cerebral atrophy, High palate, High, narrow palate, Short stature, Long phil... OMIM:612513
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Severe short stature... OMIM:112350
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia, Retinal degeneration OMIM:251700
Otopalatodigital Syndrome Type 2
Cleft palate, Pierre-Robin sequence, Oligodontia, Camptodactyly of finger, Cerebellar hypoplasia,... ORPHA:90652
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Growth delay, Morning glory anomaly, Microphthalmia, Optic disc coloboma,... OMIM:120200
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Boomerang Dysplasia
Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius OMIM:112310
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Hand oligodactyly, Intrauterine growth retardation, Talipes equinovarus, Aplasia... ORPHA:1788
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Microphthalmia, Short stature, Optic nerve hypoplasia, Hypoplasi... OMIM:609053
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... OMIM:259270
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Short stature, Proximal placement of th... OMIM:268305
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Fibular bowing, Growth delay, Subperiosteal bone resorption, Enlarg... OMIM:277440
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Short 5th metacarpal, Oligodontia, Juvenile cataract, Supern... ORPHA:1264
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Micrognathia, High palate, Intrauterine growth retardation, Wide mouth, Short philtrum, Long fing... ORPHA:363686
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Short stature, Talipes equinovarus, Retinal dystrophy, Hip dislocation, Cerebral atrophy, Obesity... OMIM:616756
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft palate, Microphthalmia, Retinal coloboma, Long philtrum, Deep philtrum, Inferior vermis hyp... OMIM:618571
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Growth delay, Subperiosteal bone resorption, Enlargement of the wr... OMIM:264700
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, C... OMIM:611702
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, High palate, Short stature, Deep philtrum, Pursed lips, Narrow mouth, Femoral bowi... OMIM:245160
Coloboma Of Macula
Macular coloboma OMIM:120300
Nephronophthisis 15
Cerebellar vermis hypoplasia, Retinal degeneration, Polydactyly, Obesity OMIM:614845
Diastrophic Dysplasia
Irregular epiphyses, Cleft palate, Talipes equinovarus, Short finger, Ulnar deviation of finger, ... OMIM:222600
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, P... OMIM:251450
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Hyp... ORPHA:75377
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Short stature, Bowing of the legs, Enamel hypomineralization, Meta... OMIM:307800
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abnormality of t... ORPHA:2879
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Talipes equinovarus, Short stature, Deep palmar crease, Global brain atrophy, Cerebellar hypoplas... OMIM:301056
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal fundus morphology, Abnormal number of incisors, Patellar subluxation, Cerebral atrophy, ... ORPHA:2958
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... OMIM:615986
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Fg Syndrome Type 1
Pyloric stenosis, Short stature, Broad toe, Slender build, Pes planus, Finger syndactyly, Aplasia... ORPHA:93932
Micro Syndrome
Optic atrophy, Micrognathia, High palate, Abnormality of retinal pigmentation, Short philtrum, In... ORPHA:2510
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... ORPHA:93307
Charlie M Syndrome
Triphalangeal thumb, Short philtrum, Thin vermilion border, Split hand, Finger syndactyly, Non-mi... ORPHA:1406
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly OMIM:615771
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Disproportionate short-limb short stature, Fibular hypoplasia, Neonatal s... OMIM:191400
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Triangular mouth, Spindle-shaped finger, Short stature, Delayed epiphyseal ossi... ORPHA:166024
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, High palate, Villous atrophy, Adducted thumb, Talipes equinovarus, Long fingers, B... OMIM:601110
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Joint contracture of the hand, Short ribs, Camptodactyly, Short long ... OMIM:228520
Jeune Syndrome
Toe syndactyly, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Short stature, Abnorm... ORPHA:474
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... ORPHA:75376
Retinitis Pigmentosa 80
Macular atrophy, Cone-shaped epiphyses of the phalanges of the hand OMIM:617781
Pelvis-Shoulder Dysplasia
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... OMIM:169550
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Cleft palate, High palate, Talipes equinovarus, Failure to thrive, Facial palsy, Camptodactyly of... OMIM:614399
Campomelic Dysplasia
Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Cleft palate, Mi... OMIM:114290
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate, Retinal coloboma, Retinal dystrophy, Iris coloboma, Foot pol... ORPHA:220493
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Peripheral axonal neuropathy, High palate, Rocker bottom foot, Talipes equinovarus,... OMIM:611890
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Cleft palate, High palate, Abnormality of the elbow, Talipes equinovarus, Ulnar dev... ORPHA:93359
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... OMIM:251270
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones OMIM:138930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus ORPHA:99940
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Short stature, Small for gestational age, Talipes equinovarus ORPHA:85288
Temtamy Syndrome
Micrognathia, Chorioretinal coloboma, Short 2nd toe, Talipes equinovarus, Long philtrum, Ectopia ... OMIM:218340
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Hypochondroplasia
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... OMIM:146000
2P15P16.1 Microdeletion Syndrome
Smooth philtrum, Pes planus, Toe clinodactyly, Camptodactyly of finger, Cerebellar hypoplasia, Hi... ORPHA:261349
19P13.13 Microdeletion Syndrome
Hypoplasia of the frontal lobes, Optic atrophy, Smooth philtrum, High palate, Macroglossia, Long ... ORPHA:357001
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Retinal coloboma, Large h... OMIM:157980
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Growth delay, Enlargement of the wrists, Bowing of the legs, Failu... OMIM:241530
Mulibrey Nanism
Pigmentary retinopathy, Hypodontia, Intrauterine growth retardation, Hypoplastic frontal sinuses,... OMIM:253250
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Limb-Mammary Syndrome
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Joint contracture of the hand, Split hand, ... OMIM:603543
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Oligodontia, Abnorma... ORPHA:363417
Gluteal Muscles, Absence Of
Optic nerve hypoplasia, Spina bifida occulta OMIM:231970
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Long philtrum, Joint contracture of the hand, Camptodactyly, Small thenar em... OMIM:211960
Laurence-Moon Syndrome
Pigmentary retinopathy, Short stature, Abnormality of the hand OMIM:245800
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Prieto X-Linked Mental Retardation Syndrome
Talipes equinovarus, Patellar subluxation, Radial deviation of finger, 11 pairs of ribs, Patellar... OMIM:309610
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia, Narrow mouth, Decrease... OMIM:614833
Joubert Syndrome 22
2-3 toe syndactyly, Intrauterine growth retardation, Microphthalmia, Retinal dysplasia, Temporal ... OMIM:615665
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Short stature, Tapered finger, Optic disc hypoplasia, Optic nerve hypoplasia, Hypo... ORPHA:401777
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate