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
abnormal retina morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 7.19×10-06
abnormal retina blood vessel morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 2.07×10-06
abnormal maxilla morphology Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 4.38×10-05
syndactyly Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 3.42×10-09
narrow eye opening Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-10
decreased lymphocyte cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 1.51×10-05
abnormal digit morphology Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 2.70×10-10
abnormal maxilla morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 2.17×10-08
abnormal coat/hair pigmentation Smoc1tm1a(EUCOMM)Wtsi HET Early adult 2.22×10-06
increased large unstained cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 2.61×10-07
abnormal pelvic girdle bone morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.60×10-06
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
increased heart weight Smoc1tm1b(EUCOMM)Wtsi HET Early adult 4.79×10-09
decreased erythrocyte cell number Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 6.46×10-05
mydriasis Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 9.68×10-07
abnormal retina vasculature morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.73×10-06
abnormal optic disk morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 6.51×10-10
decreased circulating iron level Smoc1tm1b(EUCOMM)Wtsi HET Early adult 6.64×10-05
short tibia Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased lymphocyte cell number Smoc1tm1b(EUCOMM)Wtsi HOM   Early adult 6.82×10-05
abnormal snout morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 9.78×10-10
abnormal gait Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 7.24×10-07
impaired pupillary reflex Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.15×10-06
abnormal head size Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 3.87×10-08
abnormal placement of pupils Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 2.15×10-05
abnormal lens morphology Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 6.63×10-05
increased basophil cell number Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 1.14×10-06
increased neutrophil cell number Smoc1tm1b(EUCOMM)Wtsi HET Early adult 5.38×10-09
abnormal cranium morphology Smoc1tm1b(EUCOMM)Wtsi HOM Early adult 1.66×10-08
increased red blood cell distribution width Smoc1tm1b(EUCOMM)Wtsi HET   Early adult 4.30×10-05

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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Adult LacZ

LacZ Images Wholemount

15 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

MicroCT E18.5

Embryo reconstruction

2 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
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus OMIM:613681
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Brachydactyly Type A4
Symphalangism affecting the phalanges of the hand, Short middle phalanx of the 5th finger, Short ... ORPHA:93394
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Macular col... OMIM:216800
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... OMIM:615072
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus OMIM:613618
Arthrogryposis, Distal, Type 2B2
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... OMIM:618435
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Erythema Of Acral Regions
Talipes equinovarus, Abnormality of the dentition OMIM:227000
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Congenital palmoplantar hyperkeratosis, Autoamputation of digits, Talipes equinovarus OMIM:620009
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... OMIM:311895
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Syngnathia
Cleft palate OMIM:119550
Liberfarb Syndrome
Short stature, Retinal degeneration, Retinal pigment epithelial mottling, Metaphyseal striations,... OMIM:618889
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, ... OMIM:608940
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma, Cleft palate OMIM:120433
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Joint contracture of the hand, Camptodactyly, Rocker bottom foot, Talipes... OMIM:614335
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters ano... OMIM:610023
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... OMIM:620019
Orofaciodigital Syndrome Ix
Short tibia, High palate, Retinal coloboma, Toe syndactyly, Camptodactyly, Hand polydactyly, Medi... OMIM:258865
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Leri-Weill Dyschondrosteosis
Short tibia, Coxa valga, Short 4th metacarpal, Abnormal carpal morphology, Increased carrying ang... OMIM:127300
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... ORPHA:79106
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Enamel hypoplasia, Ectopia pupillae, Optic atrophy, Unilateral narrow palpeb... OMIM:618727
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I... ORPHA:2839
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Cone/cone-rod dystrophy, Retinal atrophy, Narrow greater sciatic notch, ... ORPHA:85167
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Short 5th finger, Small for gestational age, Hypoplasia of the radi... OMIM:227270
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... ORPHA:1106
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Short stature, Fixed elbow flexion, Micrognath... ORPHA:166016
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Lethal Faciocardiomelic Dysplasia
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... ORPHA:1972
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Shox-Related Short Stature
Genu valgum, High palate, Short foot, Short stature, Micrognathia, Lower limb undergrowth, Cubitu... ORPHA:314795
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Decreas... OMIM:112910
Epiphyseal Dysplasia, Multiple, 4
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Brachyda... OMIM:226900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Abnormality of skin pigmentation, A... OMIM:300244
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Micr... ORPHA:1777
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hip contracture, Hi... OMIM:619110
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Progressive leg bowing, Short stature, Short lower limbs, Ost... OMIM:250400
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... ORPHA:3265
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... DECIPHER:46
Abruzzo-Erickson Syndrome
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Microcorne... ORPHA:921
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Or... OMIM:611638
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Micrognathia, Bifid uvula, Limb undergrowth, Fibular bowing, Enlarged jo... ORPHA:1427
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Long philtrum, Cl... ORPHA:2756
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Gombo Syndrome
Clinodactyly, Delayed puberty, Radial deviation of finger, Microphthalmia, Microcephaly, Brachyda... OMIM:233270
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Camptodactyly, Adducted thumb, Narrow mouth, Overlapping fingers, Ulnar deviation ... OMIM:618436
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... ORPHA:2935
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Iris coloboma, Cataract, Corneal opacity, Chorioretinal col... ORPHA:1473
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Cleft palate, Split foot, Split hand OMIM:183700
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, 11 pairs of ribs, High palate, Absent forearm, Short stature, M... OMIM:201170
Hypomelanosis Of Ito
Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Macular hypopigmented whorls, streaks,... OMIM:300337
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Disproportionate short s... ORPHA:93356
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Bardet-Biedl Syndrome 13
Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal ... OMIM:615990
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Seckel Syndrome 1
Abnormally large globe, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip di... OMIM:210600
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Genu ... ORPHA:2712
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... OMIM:601706
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Bardet-Biedl Syndrome 4
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Syndactyly, Brachydactyly, Obesity, Abnorm... OMIM:615982
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... ORPHA:2634
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Widely spaced teeth, 2-3 finger syndactyly, Microdontia, 2-4 finge... OMIM:225280
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Arthrogryposis, Distal, Type 7
Deep philtrum, Cutaneous syndactyly of toes, Hip dislocation, Metatarsus adductus, Hammertoe, Tal... OMIM:158300
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Short philtrum, Frontal cortical atrophy, Optic nerve hypoplasia, Hypoplasia of t... ORPHA:228384
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Talipes,... ORPHA:376
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Slender finger, Cleft palate, Abnormal... ORPHA:916
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Sprengel Deformity
Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma... ORPHA:3181
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Septooptic Dysplasia
Polydactyly, Short stature, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis... OMIM:182230
Atelosteogenesis, Type Iii
Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Micrognathi... OMIM:108721
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomegaly, Anemi... OMIM:615631
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Anophthalmia, Retinal dystrophy, Inferior cerebellar vermis hypop... ORPHA:139471
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Macular degeneration, Agenesis of corpus callosum, Clinodactyly of the 5th finger, T... OMIM:612948
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Micrognathia, Agenesis of corpus callosum, Microphthalmia, Microcephaly, R... OMIM:616570
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Premature l... ORPHA:85188
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Microcephaly, Upslanted pa... OMIM:620086
Microphthalmia, Isolated 8
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... OMIM:615113
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... OMIM:244300
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... OMIM:200500
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, High palate, Abnormal carpal morphology, Short femoral neck, Me... ORPHA:2632
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Kniest Dysplasia
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Rhizomelia,... OMIM:156550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Short femoral neck, Coxa vara, Cone/cone-rod dystrophy, Optic atrophy, Retina... OMIM:602271
Eiken Syndrome
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyse... OMIM:600002
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Overlapping toe, Inability to walk, Microcephaly, Optic atrophy OMIM:618572
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal upper limb muscle weakness, Macular degeneration, Distal upper limb amyotrophy, Distal low... OMIM:619764
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Microg... ORPHA:264200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Short stature, Micrognathia, Macular atrophy, ... OMIM:616171
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Iris coloboma, Microcephaly, Microphthalmia, Posta... ORPHA:85284
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Bardet-Biedl Syndrome 5
Polydactyly, Rod-cone dystrophy, Syndactyly, Brachydactyly, Obesity, Macular dystrophy OMIM:615983
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short stature, Hypoplasia of the ulna, Short femur, Narrow mouth, Apla... OMIM:612447
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microcornea, Iris coloboma, Microcephaly, Chorioretinal coloboma, Microph... OMIM:300915
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Macular coloboma, Retinal coloboma OMIM:107550
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Recurrent patellar dislocation, Intrinsic hand muscle atrophy,... ORPHA:178145
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Hyperpigmented nevi, Broad proximal phalanges of the hand, Optic nerve hypoplasi... OMIM:607597
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Pierre-Robin sequence, Everted upper lip vermilion, Wide mouth, Deep philtrum, Hip dysplasia, Mic... OMIM:618381
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u... OMIM:108720
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... OMIM:309630
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Small for gestational age, Toe syndactyly, Bullet-shaped... ORPHA:1617
Cousin Syndrome
2-3 toe syndactyly, Wrist flexion contracture, Humeroradial synostosis, Micrognathia, Camptodacty... OMIM:260660
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Iris coloboma, Cataract, Optic disc coloboma, Retinal coloboma OMIM:216820
Ventriculomegaly And Arthrogryposis
Ulnar deviation of the wrist, Hand clenching, Talipes equinovarus OMIM:619501
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy, Ataxia, Loss of ambulation, Vacuolated lymphocytes OMIM:609055
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Hypopigmented ski... ORPHA:1553
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology ORPHA:294975
Microcephaly-Cardiomyopathy Syndrome
Short stature, Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Microcephaly,... ORPHA:2515
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Optic a... ORPHA:1466
Bardet-Biedl Syndrome 16
Polydactyly, Rod-cone dystrophy, Short stature, Retinal degeneration, Obesity OMIM:615993
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Short stature, ... OMIM:171480
Ulnar Hypoplasia With Mental Retardation
Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus OMIM:276821
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip, Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Arthrogryposis, Distal, Type 2E
Foot joint contracture, Talipes equinovarus, Narrow mouth, Joint contracture of the hand OMIM:121070
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microdontia, Narrow pelvis bone, Truncal obesity, Limited elbow extension, Pseudoepiphyses of the... OMIM:210720
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... OMIM:249700
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Pes cavus, Proximal muscle weakness in upper limbs, Distal low... OMIM:619216
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Absent tibia, Hypoplasia of the ulna... OMIM:613091
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Optic Atrophy 2
Dysdiadochokinesis, Absent Achilles reflex, Tremor, Optic atrophy OMIM:311050
Biemond Syndrome Ii
Iris coloboma, Preaxial hand polydactyly OMIM:210350
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Spastic Ataxia 7, Autosomal Dominant
Congenital miosis, Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Cat-Eye Syndrome
Hip dysplasia, Anal atresia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Intrauterine ... ORPHA:195
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... ORPHA:957
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Eem Syndrome
Retinopathy, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnor... ORPHA:1897
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Short stature, Radiouln... ORPHA:3268
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Disproportionate sho... OMIM:223800
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Hyperreflexia
Ankle clonus, Microcephaly, Abnormality of retinal pigmentation OMIM:145290
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma OMIM:601794
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation ORPHA:2196
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Cleft lower alveolar rid... OMIM:268305
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma ORPHA:363741
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... OMIM:222600
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Microphakia, Rod-cone dystrophy, Ir... OMIM:612109
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... OMIM:607323
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Iris coloboma, Cataract, Microphthalmia, Progressive cataract OMIM:604219
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Elbow disl... ORPHA:90652
Distal Monosomy 6P
Downslanted palpebral fissures, Short foot, Posterior embryotoxon, Epicanthus, Micrognathia, Hypo... ORPHA:96125
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr... OMIM:609945
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmentation, Slender long bone... OMIM:618156
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Rhizomelia, Micrognathia, Epiphyseal stippling, Submucous cleft hard palate, Short h... OMIM:222765
Stromme Syndrome
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Retinal vascular tortuosity, Micrognathia, Ag... OMIM:243605
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia, Abnormality of the dentition OMIM:251700
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Long philtrum, Optic atrophy, Cerebellar hypoplasia, Micrognathia, Opt... ORPHA:163937
Boomerang Dysplasia
Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalm... OMIM:120200
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Linear Verrucous Nevus Syndrome
Retinopathy, Aplasia/Hypoplasia of the corpus callosum, Short metacarpal, Toe syndactyly, Dandy-W... ORPHA:2611
Cherubism
Dental malocclusion, Marcus Gunn pupil, Jaw swelling, Lower eyelid retraction, Macular scar, Opti... OMIM:118400
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Femoral bowing, Bowing of the legs, F... OMIM:600081
Zika Virus Disease
Conjunctivitis, Wrist swelling, Retinal pigment epithelial mottling, Optic disc hypoplasia, Abnor... ORPHA:448237
Cataract-Microcornea Syndrome
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy ORPHA:1377
Spastic Paraplegia 43, Autosomal Recessive
Knee flexion contracture, Optic atrophy, Gait disturbance, Pes cavus, Loss of ambulation, Ankle f... OMIM:615043
Nephronophthisis 15
Polydactyly, Obesity, Retinal degeneration, Cerebellar vermis hypoplasia OMIM:614845
Blount Disease, Adolescent
Bowing of the legs, Genu varum, Osteochondritis dissecans OMIM:259200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Hypodontia, Hyper... OMIM:617406
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Anemia, Optic atrophy, Mydriasis, Micrognathia, Pancytopenia, Hepatosplenomegaly... OMIM:259720
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Coloboma Of Macula
Macular coloboma OMIM:120300
Aniridia 1
Ectopia pupillae, Corneal erosion, Bilateral ptosis, Retinal vascular tortuosity, Hypoplasia of t... OMIM:106210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater sciatic notch, Sho... OMIM:616300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Short stature, Peripheral axonal neuropathy, Microcephaly, Cerebral atrophy, Hammertoe, Pigmentar... OMIM:619090
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic gir... ORPHA:1788
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Inferior cerebellar vermis hypoplasia, Microretrognathia, Overlappi... OMIM:618571
Joubert Syndrome With Ocular Defect
Encephalocele, Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hand polydactyly, Cere... ORPHA:220493
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Wide mouth, Micrognathia, Short philtrum, Optic nerve hypoplasia, Thin upper lip ver... ORPHA:363686
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Missing ribs, Median clef... OMIM:184705
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Long philtrum, Short 1st metacarpal, Bilateral cle... OMIM:164745
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular dentition, Wide mouth, Retinal degeneration, Abnormal auditory evoked potentials, Macul... OMIM:619260
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Severe short stature, Delayed eruption of permane... OMIM:112350
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Syndac... ORPHA:88630
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Phocomelia, Schinzel Type
Meningocele, Humeroradial synostosis, Micrognathia, Cleft palate, Ectrodactyly, Aplasia/Hypoplasi... ORPHA:2879
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Long philtrum, Joint contracture of the hand, Short stature, Camptodactyly, Metatars... OMIM:612513
Micro Syndrome
Cerebral cortical atrophy, High palate, Aplasia/Hypoplasia of the corpus callosum, Optic atrophy,... ORPHA:2510
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
17Q21.31 Microduplication Syndrome
High palate, Toe syndactyly, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Failur... ORPHA:217340
Saul-Wilson Syndrome
Overtubulated long bones, Coxa valga, Short metacarpal, Enlarged epiphyses, Short stature, Microg... OMIM:618150
Charlie M Syndrome
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Sh... ORPHA:1406
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Juve... ORPHA:1264
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Microdontia, Micrognathia, Broad hallux, Slender finger, Bil... ORPHA:251028
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Hip osteoarthritis, Rhegmatogenous retinal detachment, Abnormal epi... OMIM:619248
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, High palate, Short foot, Small hand, Clinodactyly, Cubitus valgus, Obesity, Mac... OMIM:300577
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Temtamy Syndrome
Long philtrum, Lens luxation, Micrognathia, Agenesis of corpus callosum, Hip dislocation, Pes pla... OMIM:218340
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Short stature, Retinal dystrophy, Hip dislocation, Microcephaly, Cerebral atrophy, Hypoplasia of ... OMIM:616756
Congenital Disorder Of Deglycosylation 2
High palate, Micrognathia, Macroglossia, Cerebellar vermis hypoplasia, Broad thumb, Partial agene... OMIM:619775
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... OMIM:228520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Coxa valga, Optic nerve hypoplasia, Talipes equinovalgus, Postaxial hand po... OMIM:301056
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Encephalocele, Aplasia/Hyp... ORPHA:1590
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... OMIM:277440
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... OMIM:169550
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Fanconi Anemia, Complementation Group I
Absent thumb, Decreased body weight, Cafe-au-lait spot, Short 1st metacarpal, Short stature, Hypo... OMIM:609053
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic atrophy, Talipes equinovarus OMIM:613162
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus ORPHA:99940
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Mulibrey Nanism
Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Hypodontia, Thickened cortex... OMIM:253250
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Hand clenching, Long philtrum, Small for gestational age, Adducted thumb, Flexion contracture of ... ORPHA:319332
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Metaphyseal irregularity, Bulging epiphyses, Delayed eruption of teeth, Tibial... OMIM:264700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy, Microcephaly, Cerebral atrophy, Talipes equinovarus OMIM:614255
Kahrizi Syndrome
Knee flexion contracture, Iris coloboma, Cataract, Thick vermilion border OMIM:612713
Facial Clefting, Oblique, 1
Talipes calcaneovalgus, Deep palmar crease, Cleft upper lip, Cleft palate OMIM:600251
Bardet-Biedl Syndrome 9
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, A... OMIM:615986
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Momo Syndrome
Short sternum, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... OMIM:157980
Holzgreve Syndrome
Cleft palate, Cleft upper lip, Hand polydactyly OMIM:236110
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Vertebral fusion, Vertebral hypoplasia, Anophthalmia, Esophageal atresi... OMIM:206900
Desbuquois Dysplasia 1
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... OMIM:251450
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Optic atrophy, Joint contracture of the hand, Bifid uvula, Clinodac... OMIM:601110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the brainstem, Cerebellar hypoplasia, Optic nerve hypoplasia, Cataract, Hypoplasia ... OMIM:615181
Fg Syndrome Type 1
Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Slender build, Widely ... ORPHA:93932
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Femoral retroversion, Absent uvul... OMIM:616531
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Short stature, Clinodactyly, Spindle-shaped finger, Hypoplasia of the corpus callosu... ORPHA:166024
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Cerebellar hypoplasia, Retinal dystrophy, Abnorma... OMIM:251270
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Microphthalmia, Re... OMIM:615145
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Hypoplasia of the brainstem, Coloboma, Optic atrophy, Cerebellar hypoplasia, Agenes... ORPHA:370959
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Premature o... ORPHA:93307
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Cryptophthalmos, Rhizomelia, Epicanthus, Long eyelashes, Recurrent patellar d... OMIM:615877
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome