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Gene: Pfas MGI:2684864

Gene Summary

Name:

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

Synonyms:

Sofa, 4432409B16Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Pfas^em1(IMPC)J	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Pfas^em1(IMPC)J	HET	Early adult	4.87×10^-07
abnormal nail morphology	Pfas^em1(IMPC)J	HET	Early adult	7.32×10^-06
decreased circulating aspartate transaminase level	Pfas^em1(IMPC)J	HET	Early adult	3.04×10^-05
abnormal snout morphology	Pfas^em1(IMPC)J	HET	Early adult	1.98×10^-07

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Viewing: all phenotypes

Electroretinography 3

Fundus file

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Pfas 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.

Human diseases associated with Pfas (0 diseases)
Human diseases predicted to be associated with Pfas (1014 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Hypopigmentation of hair, Anteverted nares, Depressed nasal ridge, Generalized hyperp...	ORPHA:1355
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
17Q21.31 Microduplication Syndrome	Short nose, Anteverted nares, Synophrys, Microcephaly, Failure to thrive, Micrognathia, Thick eye...	ORPHA:217340
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Microphthalmia, Anophthalmia, Micrognathia, Broad ...	OMIM:615524
Rhiny	Short nose, Anteverted nares	OMIM:180360
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Underdeveloped nasal alae, Heterochromia ...	OMIM:193510
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Non-Distal Duplication 10Q	Short nose, Aplasia/Hypoplasia affecting the eye, Microcephaly, Micrognathia, Joint hypermobility...	ORPHA:1695
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Macrocephaly, Obesity, Broad nasal tip, Malar flattening, Failure to th...	OMIM:613670
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Macrocephaly, Thick hair, Mandibular prognathia, Low posterior hairline, Synophrys, T...	ORPHA:2429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Cofs Syndrome	Microphthalmia, Prominent metopic ridge, Joint stiffness, Camptodactyly of finger, Microcephaly, ...	ORPHA:1466
Gombo Syndrome	Microcephaly, Microphthalmia	OMIM:233270
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Micrognathia, Arthrogryposis multiplex congenita, Microphthalmia	OMIM:616570
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Warburg Micro Syndrome 1	Microphthalmia, Anteverted nares, Osteoporosis, Microcephaly, Failure to thrive, Micrognathia, Jo...	OMIM:600118
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Anteverted nares, Delayed cranial suture closure, Mandibular aplasia, D...	ORPHA:1832
Craniodigital-Intellectual Disability Syndrome	Short nose, Thick hair, Narrow nasal bridge, Long eyelashes, Abnormal hair pattern, Generalized h...	ORPHA:1514
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Absent eyelashes, Absent eyebrow	OMIM:200130
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Low posterior hairline	ORPHA:1450
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Hypertelorism, Wide nose	OMIM:125700
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Pterygium Colli, Isolated	Short nose, Low posterior hairline	OMIM:177990
14Q11.2 Microdeletion Syndrome	Short nose, Highly arched eyebrow, Sparse lateral eyebrow, Micrognathia, Melanocytic nevus, Deepl...	ORPHA:261120
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Synophrys, Long eyelashes, Thick eyebrow, Low anterior hairline, ...	ORPHA:411986
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Chromosome 3Q29 Duplication Syndrome	Short nose, Macrocephaly, Abnormally large globe, Low posterior hairline, Microcephaly, Obesity, ...	OMIM:611936
Oculocerebrocutaneous Syndrome	Microphthalmia, Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Alopecia	OMIM:164180
Meckel Syndrome, Type 8	Short nose, Microphthalmia, Anophthalmia, Depressed nasal ridge, Microcephaly	OMIM:613885
Mmep Syndrome	Microcephaly, Mandibular prognathia, Microphthalmia	ORPHA:3434
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Retrognathia, Microphthalmia	ORPHA:2528
Maxillonasal Dysplasia, Binder Type	Short nose, Depressed nasal bridge, Short columella	OMIM:155050
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Macrocephaly, Patchy alopecia, Multiple cafe-au-lait spots, Microcephaly, Camptodactyly of finger...	ORPHA:85279
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Edinburgh Malformation Syndrome	Short nose, Anteverted nares, Hirsutism, Choanal atresia, Low posterior hairline, Synophrys, Join...	ORPHA:1895
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Microcephaly, Camptodactyly of finger, Micrognathia, Sparse hair, Prominent nose,...	OMIM:610756
Microphthalmia With Limb Anomalies	Short nose, Retrognathia, Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia, Abnorma...	OMIM:206920
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormality of the nose, Hypopigmentation of hair, Synophrys, White fo...	ORPHA:897
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Hypotelorism, Inguinal hernia, Microcephaly, Micrognathia, Low anterior hairline, Bro...	OMIM:613544
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity, Cubitus valgus, Low posterior hairline	OMIM:300577
Developmental And Epileptic Encephalopathy 73	Short nose, Inguinal hernia, Narrow nasal bridge, Microcephaly, Failure to thrive, Flexion contra...	OMIM:618379
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Synophrys, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Pierpont Syndrome	Short nose, High anterior hairline, Microphthalmia, Wide nose, Decreased body weight, Microcephal...	OMIM:602342
Pierpont Syndrome	Abnormal subcutaneous fat tissue distribution, High anterior hairline, Microphthalmia, Wide nasal...	ORPHA:487825
Frontonasal Dysplasia 1	Short columella, Microphthalmia, Frontal cutaneous lipoma, Bifid nasal tip, Camptodactyly, Hypopl...	OMIM:136760
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Retrognathia, Microphthalmia, Short nose, S...	OMIM:234050
Craniodiaphyseal Dysplasia, Autosomal Dominant	Macrocephaly, Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sc...	OMIM:122860
Chung-Jansen Syndrome	Short nose, Anteverted nares, Synophrys, Cafe-au-lait spot, Obesity, Micrognathia, Thick eyebrow,...	OMIM:617991
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Postnatal macrocephaly, Low hanging columella, Highly arched eyebrow, Optic nerve h...	OMIM:620157
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Osteolysis	ORPHA:2776
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Wide nose, Anteverted nares, Camptodactyly, Sparse lateral eyebro...	OMIM:619694
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Multiple cafe-au-lait spots, Microcephaly, Thrombocytopenia, Leukemia, Ne...	OMIM:614082
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Short nose, Hypopigmentation of hair, Abno...	ORPHA:894
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Nail dysplasia, Short nose, Macrocephaly, Malar flattening, Hypoplastic toenails, Hypoplasia of t...	ORPHA:2835
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Depressed nasal ridge, Hypoplasia of the maxilla, Camptodac...	ORPHA:1529
Seckel Syndrome 2	Microphthalmia, Microcephaly, Micrognathia, Few cafe-au-lait spots, Prominent nose, Primary micro...	OMIM:606744
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Hypotelorism, Anophthalmia, Anosmia, Choanal atresia, Microcephaly, Mid...	OMIM:147250
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Hypopigmentation of the skin, Microcephaly, Failure to thrive, Micrognathia, Hyperte...	ORPHA:261304
Trisomy 1Q	Congenital diaphragmatic hernia, Macrocephaly, Hypotelorism, Wide nose, Anophthalmia, Omphalocele...	ORPHA:261344
Non-Distal Duplication 13Q	Short nose, Hypotelorism, Abnormal eyelash morphology, Synophrys, Microcephaly, Aplasia/Hypoplasi...	ORPHA:1702
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Delayed eruption of teeth, Hirsutism, Elbow flexion contracture, Osteoporosis, Ca...	OMIM:214150
Melanocytic Nevus Syndrome, Congenital	Short nose, Congenital giant melanocytic nevus, Narrow nasal ridge, Anteverted nares, Broad nasal...	OMIM:137550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Micrognathia, Microphthalmia, Prominent nose	OMIM:616171
Temtamy Syndrome	Microphthalmia, Macrocephaly, Micrognathia, Joint hypermobility, Convex nasal ridge, Genu varum	ORPHA:1777
Adenylosuccinate Lyase Deficiency	Microcephaly, Short nose, Anteverted nares, Prominent metopic ridge	ORPHA:46
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Anteverted nares, Proptosis, Long eyelashes, Micrognathia, Ulnar deviation of the wri...	OMIM:618577
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Weiss-Kruszka Syndrome	Short nose, Highly arched eyebrow, Prominent nasal tip, Prominent metopic ridge, Hypertelorism	ORPHA:502430
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys	DECIPHER:52
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Highly arched eyebrow, Progressive microcephaly, Hypertelorism, Depressed nasal bridge	ORPHA:438178
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Osteopetrosis, Macrocephaly, Microphthalmia, Increased bone minera...	OMIM:617306
Trigonocephaly 1	Short nose, Hypotelorism, Metopic synostosis, Synophrys, Microcephaly, Omphalocele, Craniosynosto...	OMIM:190440
Foxp1 Syndrome	Short nose, Retrognathia, Macrocephaly, Mandibular prognathia, Failure to thrive, Hypertelorism, ...	ORPHA:391372
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia...	ORPHA:1248
Fanconi Anemia, Complementation Group S	Microphthalmia, Anteverted nares, Long eyelashes, Microcephaly, Failure to thrive, Low anterior h...	OMIM:617883
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipo...	OMIM:608612
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Short nose, Micrognathia, Distichiasis	ORPHA:2598
Cockayne Syndrome Type 2	Scarring, Hypermelanotic macule, Hypoplasia of the primary teeth, Anophthalmia, Mandibular progna...	ORPHA:90322
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Highly arched eyebrow, Limitation of joint mobility, Depressed nasal...	ORPHA:178303
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Retrognathia, Microphthalmia, Proptosis, Shallow orbits, Aplasia of the nasal bone, ...	OMIM:601812
2Q24 Microdeletion Syndrome	Microphthalmia, Camptodactyly of finger, Failure to thrive, Hypertelorism, Small for gestational age	ORPHA:1617
Achondrogenesis	Short nose, Macrocephaly, Abnormality of bone mineral density, Anteverted nares, Abnormal enchond...	ORPHA:932
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Progressive microcephaly, Synophrys, Hypoplasia of the maxilla, Thick eyebrow, Bulbous nose	OMIM:618737
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Red hair, Anteverted nares, Mandibular prognathia, Obesity, Depressed nasal bridge, M...	OMIM:614613
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Braddock-Carey Syndrome 2	Microcephaly, Retrognathia, Microphthalmia, Bulbous nose	OMIM:619981
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Primary microcephaly, Small for gestational age	OMIM:245570
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Short nose, Nail dystrophy, Microphthalmia, Highly arched eyebro...	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Decreased skull ossification, Omphalocele, Micrognathia, Hypertelorism, Wide nasa...	ORPHA:93267
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Short nose, Abnormal bone ossification, Microphthalmia, Increased...	ORPHA:163649
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Anteverted nares, Umbilical hernia, Obesity, Micrognathia, Malar flattening, Radiouln...	ORPHA:171839
Peho-Like Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:617507
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Wide nose, Abnormal eyelash morphology, Depressed nasal...	ORPHA:2399
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Microphthalmia, Small nail, Cafe-au-lait spot, Persistent open anterior f...	OMIM:620601
20P12.3 Microdeletion Syndrome	Macrocephaly, Hypoplasia of the maxilla, Malar flattening, Wide nasal bridge, Depressed nasal bridge	ORPHA:261295
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Teebi Hypertelorism Syndrome 2	Short nose, Delayed eruption of teeth, Wide anterior fontanel, Proptosis, Thick eyebrow, Broad na...	OMIM:619736
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Anencephaly 2	Bifid nose, Anophthalmia	OMIM:619452
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Proptosis, Omp...	ORPHA:2143
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Marshall-Smith Syndrome	Short nose, Retrognathia, Reduced bone mineral density, Anteverted nares, Proptosis, Choanal atre...	ORPHA:561
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Macrocephaly, Cafe-au-lait spot, Multiple lipomas, Hypertelorism, Depressed nasal bridge	ORPHA:210548
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Retrognathia, Microphthalmia, Short nose, Small nail, Britt...	OMIM:601675
Sandestig-Stefanova Syndrome	Convex nasal ridge, Retrognathia, Microphthalmia, Highly arched eyebrow, Primary microcephaly, La...	OMIM:618804
Perlman Syndrome	Short nose, Retrognathia, Macrocephaly, Inguinal hernia, Anteverted nares, Femoral hernia, Microg...	ORPHA:2849
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Hypoplasia ...	OMIM:166300
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Anteverted nares, Proptosis, Choanal atresia, Aplasia/Hypoplasi...	ORPHA:1914
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Microphthalmia, Small nail, Underdeveloped nasal alae, Agenesis of central incisor, S...	ORPHA:364577
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia, Small for gestational age	OMIM:278780
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia	ORPHA:2432
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Hypoplasia of the maxilla, Sparse eyebrow, Lipomas of eyelids, Hypertelorism, Wid...	OMIM:167730
Adams-Oliver Syndrome 2	Microphthalmia, Macrocephaly, Small nail, Microcephaly, Micrognathia, Low anterior hairline, Bulb...	OMIM:614219
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Hypertelorism	ORPHA:66625
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Hypoplastic fingernail, Hypoplastic thumbnail, Anteverted nares, Microcephaly, Microg...	OMIM:619356
Trisomy 13	Microphthalmia, Hypotelorism, Anophthalmia, Abnormal eyelash morphology, Malar flattening, Aplasi...	ORPHA:3378
Anophthalmia Plus Syndrome	Hypertelorism, Abnormal nasal morphology, Choanal atresia, Anophthalmia	ORPHA:1104
Cerebrooculonasal Syndrome	Short nose, Macrocephaly, Proboscis, Anophthalmia, Optic nerve hypoplasia, Anteverted nares, Spar...	OMIM:605627
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Short nose, Genu valgum, Recurrent patellar dislocation, Proptosis, Coro...	OMIM:614078
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Camptodactyly of finger, Micrognathia, Short nose	ORPHA:1495
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge, Osteoporosis of vertebrae	OMIM:156510
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Macrocephaly, Abnormal dental enamel morphology, Mandibular prognathia, Anteverted nares, Abnorma...	ORPHA:2180
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly, Prominent nasal bridge	OMIM:300676
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, Short nose, Convex nasal ridge, Widely patent coronal suture, Generaliz...	ORPHA:2409
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Joubert Syndrome 37	Microphthalmia, Wide nose, Anteverted nares, Prominent metopic ridge, Obesity, Sparse hair, Joint...	OMIM:619185
Keipert Syndrome	Macrocephaly, Aplastic/hypoplastic toenail, Hypoplasia of the maxilla, Prominent nasal bridge, De...	ORPHA:2662
Hydrolethalus	Retrognathia, Microphthalmia, Anophthalmia, Micrognathia, Abnormality of the sense of smell, Deep...	ORPHA:2189
Fetal Alcohol Syndrome	Short nose, Microphthalmia, Anteverted nares, Biparietal narrowing, Joint stiffness, Microcephaly...	ORPHA:1915
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microphthalmia, Limitation of joint mobility, Camptodactyly of finger, Micrognathia	ORPHA:2547
Periventricular Nodular Heterotopia 7	Short nose, Anteverted nares, Proptosis, Failure to thrive, Micrognathia, Contracture of the prox...	OMIM:617201
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology, Depressed nasal bridge	OMIM:616911
Craniotelencephalic Dysplasia	Microcephaly, Craniosynostosis, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short nose, Hypotelorism, Wide nose, Anteverted nares, Decreased body weight, Synophrys, Microcep...	ORPHA:391408
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Ritscher-Schinzel Syndrome 3	Microphthalmia, Epiphyseal stippling, Highly arched eyebrow, Wide anterior fontanel, Anteverted n...	OMIM:619135
Baraitser-Winter Syndrome 1	Short nose, Retrognathia, Microphthalmia, Highly arched eyebrow, Anteverted nares, Low posterior ...	OMIM:243310
Trisomy 12P	Short nose, Proptosis, Aplasia/Hypoplasia affecting the eye, Micrognathia, Thick eyebrow, Malar f...	ORPHA:1699
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypoplastic toenails, Short nose, Anteverted nares, Sparse scalp hair, Low posterior hairline, Ca...	ORPHA:2701
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Cubitus valgus, Highly arched eyebrow, Anteverted nares, Mandibular prognathia, Synop...	ORPHA:1327
Clark-Baraitser Syndrome	Short nose, Low hanging columella, Anteverted nares, Microcephaly, Obesity, Hypertelorism, Depres...	OMIM:617752
Achondrogenesis Type 1A	Short nose, Macrocephaly, Anteverted nares, Abnormal enchondral ossification, Femoral hernia, Mic...	ORPHA:93299
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Hypoplasia of the maxilla, Sparse axillary hair, Abnorma...	OMIM:608154
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Reduced bone mineral density, Proptosis	ORPHA:2370
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Inguinal hernia, Brittle hair, Wide anterior fontanel, Abnormality of hair texture, A...	OMIM:219200
Frontonasal Dysplasia 2	Microphthalmia, Cleft ala nasi, Anteverted nares, Bifid nasal tip, Depressed nasal ridge, Depress...	OMIM:613451
Achondrogenesis Type 1B	Short nose, Macrocephaly, Anteverted nares, Femoral hernia, Abnormal enchondral ossification, Mic...	ORPHA:93298
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Microcephaly, Delayed eruption of permanent teeth, Short nose, Anteverted nares	OMIM:618506
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, High anterior hairline, Macrocephaly, Microphthalmia, Joint contracture of the 5th ...	OMIM:620098
Smith-Kingsmore Syndrome	Large for gestational age, Short nose, Macrocephaly, Wide anterior fontanel, Curly hair, Cafe-au-...	OMIM:616638
17P13.3 Microduplication Syndrome	Short nose, Wide nose, Inguinal hernia, Congenital hip dislocation, Hypertelorism	ORPHA:217385
Congenital Varicella Syndrome	Microcephaly, Atypical scarring of skin, Microphthalmia	ORPHA:291
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Potocki-Shaffer Syndrome	Sparse lateral eyebrow, Short nose, Wide nasal bridge, Underdeveloped nasal alae	OMIM:601224
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Highly arched eyebrow, Optic nerve hypoplasia, Synophrys, Long eyelashes, Low anterio...	OMIM:618828
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia, Toenail dysplasia, Hypoplastic toenails	OMIM:615297
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, Microphthalmia, Dental malocclusion, Delayed eruption...	OMIM:257850
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Failure to thrive, Microphthalmia	OMIM:274270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Progressive macrocephaly, Joint hypermobility, Hernia, Hypertelorism, Depressed n...	OMIM:602501
Holoprosencephaly	Congenital diaphragmatic hernia, Microphthalmia, Highly arched eyebrow, Anosmia, Microcephaly, Jo...	ORPHA:2162
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Bifid nasal tip, Omphalocele, Broad nasal tip, Abnormality of the h...	OMIM:248450
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypopigmented skin patches, Short nose, Abnormal nostril morphology, Genu valgum, Aplastic/hypopl...	ORPHA:1295
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Hypotelorism, Anteverted nares, Camptodactyly, Micrognathia, Hypertelorism, Deeply se...	OMIM:613604
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation	OMIM:251270
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, Choanal atresia, Abnormality of the sense of smell, Hyperteloris...	ORPHA:1135
Microphthalmia, Syndromic 8	Microcephaly, Mandibular prognathia, Microphthalmia	OMIM:601349
Split-Hand/Foot Malformation 3	Nail dysplasia, Nail dystrophy, Ridged nail, Camptodactyly, Hypoplasia of the maxilla, Microretro...	OMIM:246560
Crouzon Syndrome	Hypopigmented skin patches, Choanal atresia, Multiple suture craniosynostosis, Hypoplasia of the ...	ORPHA:207
Tetrasomy 12P	Short nose, Delayed eruption of teeth, Cachexia, Anteverted nares, Sparse eyebrow, Sparse hair, J...	ORPHA:884
Cockayne Syndrome Type 1	Scarring, Hypermelanotic macule, Hypoplasia of the primary teeth, Foot joint contracture, Anophth...	ORPHA:90321
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Frontal balding	ORPHA:93945
Acromicric Dysplasia	Short nose, Anteverted nares, Long eyelashes, Abnormal eyebrow morphology, Bulbous nose	ORPHA:969
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Flexion contracture of toe, Dislocated radial head, Elbow flexion contr...	OMIM:610758
Acrocephalopolydactyly	Genu recurvatum, Short nose, Hypertelorism, Depressed nasal ridge	ORPHA:221054
Ring Chromosome 10 Syndrome	Microphthalmia, Cachexia, Micrognathia, Hypertelorism, Wide nasal bridge	ORPHA:1438
Xk Aprosencephaly Syndrome	Microcephaly, Microphthalmia, Hypotelorism, Abnormal nostril morphology	ORPHA:3469
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Microphthalmia, Anteverted nares, Microcephaly, Sparse hair, Bulbous nose, Retinal pi...	OMIM:614105
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Bilateral microphthalmos, Mandibular prognathia, Camptodactyly, Horizontal eyebrow, U...	ORPHA:369891
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Bifid nasal tip, Abnormal hair pattern, Hypertelorism	ORPHA:2717
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Short nose, Hypotelorism, Congenital contracture, Micrognathia	OMIM:615042
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
X-Linked Intellectual Disability, Sutherland-Haan Type	Microcephaly, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Highly arched eyebrow, Anteverted nares, Absent eyelashes, Biparietal narrowing, Hypoplasia of th...	ORPHA:228396
Intellectual Developmental Disorder, X-Linked 21	Short nose, Mandibular prognathia, Synophrys, Joint hypermobility, Hypertelorism	OMIM:300143
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Verheij Syndrome	Short nose, Retrognathia, Small for gestational age, Optic nerve hypoplasia, Anteverted nares, Mi...	OMIM:615583
Craniolenticulosutural Dysplasia	Wide nose, Hyperpigmentation of the skin, Brittle hair, Delayed eruption of teeth, Decreased skul...	ORPHA:50814
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short nose, Retrognathia, Hirsutism, Microcephaly, Failure to thrive, Joint contractu...	OMIM:618005
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal subcutaneous fat tissue distribution, Short nose, Thick hair, Inguinal hernia, Progressi...	ORPHA:357074
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Flexion contracture of toe, Finger joint contracture, Osteoporosis, Micrognathia,...	ORPHA:48431
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Microphthalmia, Macrocephaly, Decreased skull ossification, Depressed nasal ridge	OMIM:300863
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Reduced bone mineral density, Cubitus valgus, Macrocephaly, Spina bifida occulta, Gen...	ORPHA:1185
Lujan-Fryns Syndrome	Macrocephaly, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal b...	ORPHA:776
Frontofacionasal Dysplasia	Short nose, Microphthalmia, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasa...	ORPHA:1791
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short nose, Retrognathia, Macrocephaly, Proptosis, Synophrys, Long eyelashes, Hypoplasia of teeth...	OMIM:620250
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Hypertelorism, Wide nasal bridge, Underdevelope...	OMIM:613456
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Macrocephaly, Anemia, Unilateral microphthalmos, Failure to thrive, Thrombocytopen...	OMIM:615085
Otodental Syndrome	Microphthalmia, Delayed eruption of teeth, Abnormal dental enamel morphology, Anteverted nares, A...	ORPHA:2791
Teebi Hypertelorism Syndrome 1	Short nose, Highly arched eyebrow, Anteverted nares, Omphalocele, Coronal craniosynostosis, Micro...	OMIM:145420
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Microcephaly, Depressed nasal bridge	OMIM:302950
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism	ORPHA:79476
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Anteverted nares, Underdeveloped nasal alae, Coronal craniosynostosis, Bifid nose...	ORPHA:228390
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Wrist flexion contracture, Microcephaly, Flexion contracture of finge...	OMIM:193700
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flatte...	OMIM:241310
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Micrognathia, Malar flattening, Convex nasal ridge, Hypertelorism	ORPHA:2145
Al-Raqad Syndrome	Short nose, Hypopigmentation of the skin, Microcephaly, Joint hypermobility, Deeply set eye	OMIM:616459
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Macrocephaly, Inguinal hernia, Wide anterior fontanel, Anteverted nare...	OMIM:618272
Craniotelencephalic Dysplasia	Craniosynostosis, Microphthalmia, Hypotelorism, Optic nerve hypoplasia	OMIM:218670
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypermelanotic macule, Ankylosis of feet small joints, Wrist flexion contracture, Sclerotic crani...	OMIM:259600
Dysostosis, Stanescu Type	Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Persisten...	ORPHA:1798
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, Hypotelorism, Progressive microcephaly, Failure to thrive, Micrognathia, ...	ORPHA:329178
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Slender nose, Microcephaly, Micrognathia, Joint contracture	OMIM:615419
Bartsocas-Papas Syndrome	Hypoplastic toenails, Popliteal pterygium, Short nose, Sparse or absent eyelashes, Synostosis of ...	ORPHA:1234
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Microphthalmia, Microcephaly, Anophthalmia	ORPHA:139471
Oculodentodigital Dysplasia	Short nose, Microphthalmia, Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th ...	OMIM:164200
Hall-Riggs Syndrome	Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Ante...	ORPHA:2107
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Small nail, Progressive microcephaly, Hypoplasia of the maxilla, Failure t...	OMIM:614261
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short nose, Anteverted nares, Decreased skull ossification, Multiple prenatal fractur...	OMIM:616897
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Retrognathia, Microphthalmia, Secondary microcephaly	OMIM:614583
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly	ORPHA:397973
Congenital Toxoplasmosis	Microphthalmia, Anemia, Microcephaly, Abnormality of retinal pigmentation, Thrombocytopenia, Fail...	ORPHA:858
Tetrasomy 5P	Short nose, Macrocephaly, Wide anterior fontanel, Anteverted nares, Failure to thrive, Micrognath...	ORPHA:3309
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Highly arched ...	OMIM:615485
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Microphthalmia, Sparse hair, Absent eyelashes, Osteopo...	OMIM:268400
Prolidase Deficiency	Short nose, Facial hirsutism, Proptosis, Low posterior hairline, Failure to thrive, Micrognathia,...	OMIM:170100
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Abnormality of skin pigmentation, Failure to thrive, Hypertrichosis, Hyperteloris...	OMIM:612379
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Hirsutism, Microcephaly, Sparse hair, Deeply set eye, Hypertel...	OMIM:618087
Robinow Syndrome, Autosomal Recessive 2	Short nose, Ventral hernia, Anteverted nares, Relative macrocephaly, Proptosis, Camptodactyly, Lo...	OMIM:618529
Nance-Horan Syndrome	Supernumerary tooth, Microphthalmia, Mandibular prognathia, Prominent nasal bridge, Prominent nose	ORPHA:627
Craniometaphyseal Dysplasia, Autosomal Recessive	Macrocephaly, Bony paranasal bossing, Mandibular prognathia, Nasal congestion, Depressed nasal ri...	OMIM:218400
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Nail dystrophy, Generalized lipodystrophy, Hyperpigmentation of the skin, Abnormal ha...	ORPHA:90154
Distal Duplication 18Q	Short nose, Anteverted nares, Choanal atresia, Camptodactyly of finger, Micrognathia, Carious tee...	ORPHA:1716
Stickler Syndrome Type 1	Joint hypermobility, Short nose, Osteoarthritis, Hypoplasia of the maxilla	ORPHA:90653
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Highly arched eyebrow, Microcephaly, Camptodactyly of finger, Micrognathia, Abnormal ...	ORPHA:2083
Hartsfield Syndrome	Craniosynostosis, Microphthalmia, Hypertelorism, Depressed nasal bridge	ORPHA:2117
Pycnodysostosis	Nail dysplasia, Ridged nail, Persistent open anterior fontanelle, Joint hypermobility, Delayed er...	ORPHA:763
Fg Syndrome 5	Short nose, Anteverted nares, Depressed nasal bridge	OMIM:300581
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Macrocephaly, Bicoronal synostosis, Optic nerve hypopl...	OMIM:600775
Monosomy 18P	Microphthalmia, Low posterior hairline, Microcephaly, Carious teeth, Micrognathia, Wide nasal bri...	ORPHA:1598
Autosomal Dominant Omodysplasia	Short nose, Micrognathia, Malar flattening, Patellar dislocation, Elbow dislocation, Hyperteloris...	ORPHA:93328
Cohen Syndrome	Bone spicule pigmentation of the retina, Genu valgum, Cubitus valgus, Microcephaly, Hypoplasia of...	OMIM:216550
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Scarring alopecia of scalp, Abnormality of the nail, Epiphyseal stippling, Anteri...	ORPHA:35173
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Macrocephaly, Hypoplasia of the maxilla, Rieger anomaly, Malar flattening, Hip dislocation	OMIM:109120
Gomez-Lopez-Hernandez Syndrome	Short nose, Wide anterior fontanel, Anteverted nares, Malar flattening, Wormian bones, Craniosyno...	OMIM:601853
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Short nose, Retrognathia, Inguinal hernia, Anteverted nares, Sparse eyelashes, Fa...	OMIM:613026
Pallister-Hall-Like Syndrome	Short nose, Macrocephaly, Microcephaly, Micrognathia, Depressed nasal bridge, Hip dislocation	OMIM:241800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Macrocephaly, Craniosynostosis, Depressed nasal bridge	OMIM:614732
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Delayed eruption of teeth, Highly arched eyebrow, Hypoplastic fifth toenai...	OMIM:615866
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose, Deeply set eye	ORPHA:833
Pontocerebellar Hypoplasia, Type 2E	Secondary microcephaly, Short nose, Wide nose, Progressive microcephaly, Osteoporosis, Microcepha...	OMIM:615851
5Q14.3 Microdeletion Syndrome	Short nose, Optic nerve hypoplasia, Anteverted nares, Thick eyebrow, Deeply set eye	ORPHA:228384
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Macrocephaly, Bifid nasal tip, Unilateral microphthalmos, Sparse eyelashes, Fa...	OMIM:618874
Holoprosencephaly 9	Agenesis of incisor, Microphthalmia, Short nose, Single naris, Anophthalmia, Wide anterior fontan...	OMIM:610829
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Nablus Mask-Like Facial Syndrome	Secondary microcephaly, Retrognathia, Short nose, Highly arched eyebrow, Anteverted nares, Absent...	OMIM:608156
Fetal Trimethadione Syndrome	Short nose, Synophrys, Microcephaly, Micrognathia, Depressed nasal bridge	ORPHA:1913
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Macrocephaly, Wide anterior fontanel, Proptosis, Omp...	OMIM:222448
Acrodysostosis	Short nose, Joint dislocation, Epiphyseal stippling, Abnormality of the nail, Delayed eruption of...	ORPHA:950
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Primary microcephaly	OMIM:615771
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Warburg Micro Syndrome 3	Secondary microcephaly, Short nose, Microphthalmia, Microcephaly, Micrognathia, Low anterior hair...	OMIM:614222
Heart And Brain Malformation Syndrome	Microphthalmia, Wide anterior fontanel, Anteverted nares, Prominent metopic ridge, Microcephaly, ...	OMIM:616920
Cebalid Syndrome	Congenital diaphragmatic hernia, Short nose, Highly arched eyebrow, Anteverted nares, Depressed n...	OMIM:618774
Cohen Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Thick hair, Abnormal eyelash morphology, Long eyelas...	ORPHA:193
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Inguinal hernia, Anteverted nares, Synostosis of carpal bones, Obesity, Micrognathia	ORPHA:3191
Antley-Bixler Syndrome	Short nose, Anteverted nares, Delayed cranial suture closure, Proptosis, Choanal atresia, Joint s...	ORPHA:83
Autosomal Recessive Omodysplasia	Short nose, Pterygium, Anteverted nares, Elbow dislocation, Micrognathia, Craniosynostosis, Herni...	ORPHA:93329
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Hypoplasia of the maxilla, Micrognathia, Trismus, Wide nasal bridge, Delayed er...	OMIM:616367
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Retrognathia, Congenital diaphragmatic hernia, Microphthalmia, Wide n...	ORPHA:2556
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Anteverted nares, Proptosis, Coarse metaphyseal trabecularization, Hypertelorism, Dep...	OMIM:618961
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Progressive microcephaly, Long eyelashes, Microcephaly, Mi...	OMIM:617802
Methionine Malabsorption Syndrome	Blue irides, Positive ferric chloride test, White hair	OMIM:250900
Poikiloderma With Neutropenia	Short nose, Nail dystrophy, Retrognathia, Underdeveloped nasal alae, Low posterior hairline, Spar...	OMIM:604173
Dermotrichic Syndrome	Short nose, Nail dystrophy, Depressed nasal bridge, Hyperconvex toenail	ORPHA:99688
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Retrognathia, Anteverted nares, Recurrent upper respiratory tract infections, Hyperte...	OMIM:614069
Microphthalmia, Syndromic 13	Microcephaly, Microphthalmia	OMIM:300915
Smith-Magenis Syndrome	Short nose, Anteverted nares, Mandibular prognathia, Synophrys, Joint stiffness, Microcephaly, Ob...	ORPHA:819
Micro Syndrome	Short nose, Microphthalmia, Anteverted nares, Joint stiffness, Microcephaly, Micrognathia, Abnorm...	ORPHA:2510
Dislocation Of The Hip-Dysmorphism Syndrome	Anteverted nares, Depressed nasal ridge, Congenital hip dislocation, Malar flattening, Abnormalit...	ORPHA:2412
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Wide anterior fontanel, Micrognathia, An...	OMIM:619339
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Mandibular prognathia, Hypertrichosis, Hypoplasia of the maxilla	OMIM:601216
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Single naris, Inguinal hernia, Anophthalmia, Hyposmia, Anosmia, Failure of erupti...	ORPHA:2250
Pfeiffer Syndrome	Short nose, Mandibular prognathia, Choanal atresia, Coronal craniosynostosis, Humeroradial synost...	OMIM:101600
Proboscis Lateralis	Abnormal ethmoid bone morphology, Microphthalmia, Macrocephaly, Abnormal facial skeleton morpholo...	ORPHA:141099
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Medial flaring of the eyebrow, Long eyelashes, Microcephaly, Failure to thrive, Micro...	OMIM:619833
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Low hanging columella, Hirsutism, Unilateral microphthalmos, Microcephaly	OMIM:619318
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia, Multiple cafe-au-lait spots	OMIM:609054
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Microcephaly, Short nose, Hypertelorism, Depressed nasal bridge	OMIM:616910
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Genu valgum, Reduced bone mineral density, Spina bifida occulta, Low posterior hairli...	ORPHA:2983
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, C...	ORPHA:79345
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Osteoglosphonic Dysplasia	Abnormal bone ossification, Craniosynostosis, Inguinal hernia, Anteverted nares, Choanal atresia,...	ORPHA:2645
Short Syndrome	Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Hypoplasi...	ORPHA:3163
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Hypotelorism, Cafe-au-lait spot, Microcephaly, Micrognathia, Sparse hair, Craniosynos...	OMIM:614114
Temtamy Syndrome	Microphthalmia, Highly arched eyebrow, Hypoplasia of teeth, Micrognathia, Convex nasal ridge, Hyp...	OMIM:218340
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Macrocephaly, Short nose, Mandibular prognathia, Hyperp...	OMIM:614753
Oculodentodigital Dysplasia	Sparse hair, Umbilical hernia, Fine hair, Taurodontia, Cranial hyperostosis, Brittle hair, Abnorm...	ORPHA:2710
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Macrocephaly, Highly arched eyebrow, Anteverted nares, Synophrys, Omphalocele, Depres...	OMIM:618316
Fibular Hemimelia	Abnormal bone ossification, Limited knee flexion/extension, Hip subluxation, Genu valgum, Anophth...	ORPHA:93323
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Limited elbow extension and supination, Synophrys, Prominent ...	ORPHA:401935
Even-Plus Syndrome	Short nose, Highly arched eyebrow, Bifid nasal tip, Depressed nasal ridge, Synophrys, Sparse hair	OMIM:616854
Aarskog-Scott Syndrome	High anterior hairline, Delayed eruption of teeth, Genu recurvatum, Anteverted nares, Hypoplasia ...	ORPHA:915
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Anteverted nares, Mandibular prognathia, Microcephaly, Broad nasal tip, Depressed...	OMIM:152950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Sinusitis, Failure to thrive, Micrognathia, Malar flattening, Hyper...	OMIM:242860
Chromosome 13Q33-Q34 Deletion Syndrome	Advanced eruption of teeth, Microphthalmia, Delayed eruption of teeth, Low hanging columella, Cho...	OMIM:619148
Focal Dermal Hypoplasia	Nail dysplasia, Congenital diaphragmatic hernia, Nail dystrophy, Microphthalmia, Aniridia, Ridged...	OMIM:305600
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Macrocephaly, Hypopigmentat...	ORPHA:53271
Desbuquois Dysplasia 1	Short nose, Advanced ossification of carpal bones, Joint dislocation, Flat acetabular roof, Propt...	OMIM:251450
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Macrocephaly, Highly arched eyebrow, Progressive microcep...	OMIM:617865
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Obesity And Hypopigmentation	Red hair	OMIM:620195
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Retrognathia, Macrocephaly, Inguinal hernia, Aplastic/hypoplastic toenail, Abnormal d...	ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Retrognathia, Hirsutism, Synophrys, Microcephaly, Micrognathia, Hypertelorism, Thick ...	OMIM:617061
Odontochondrodysplasia	Retrognathia, Short nose, Delayed eruption of teeth, Dentinogenesis imperfecta, Joint hypermobili...	ORPHA:166272
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Abnormally large globe, Progressive microcephaly, Optic nerve hypoplasia, Decreased b...	OMIM:300749
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Short nose, Microretrognathia	ORPHA:1389
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukonychia, Microphthalmia, Panniculitis, Wide nose, Abnormal hair morphology, Anophthalmia, Ant...	ORPHA:2526
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Abnormal spleen morphology, Failur...	ORPHA:2470
Marshall Syndrome	Short nose, Genu valgum, Anteverted nares, Hypoplastic frontal sinuses, Sparse eyelashes, Hypopla...	ORPHA:560
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Microphthalmia	ORPHA:324416
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Osteoporosis, Low posterior hairline, Iris hypopi...	ORPHA:85194
3Q29 Microduplication Syndrome	Microphthalmia, Macrocephaly, Aniridia, Biparietal narrowing, Camptodactyly of toe, Microcephaly,...	ORPHA:251038
Ohdo Syndrome, X-Linked	High anterior hairline, Microphthalmia, Inguinal hernia, Decreased body weight, Prominent nose, C...	OMIM:300895
Miller-Dieker Syndrome	Short nose, Anteverted nares	ORPHA:531
Martsolf Syndrome 1	Talipes valgus, Microphthalmia, Tracheomalacia, Low posterior hairline, Microcephaly, Hypoplasia ...	OMIM:212720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Abnormally large globe, Small nail, Highly arched eyebrow, Delayed ossification of ca...	OMIM:239300
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Microcephaly, Prominent nasal bridge, Deeply set eye	OMIM:300558
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Hypoplasia of the maxilla, Low anterior hairline, Flexion contracture, Wide nasal bridge	OMIM:218000
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Short nose, Highly arched eyebrow, Narrow nasal ridge, Limitatio...	ORPHA:363528
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Mandibulofacial Dysostosis-Microcephaly Syndrome	Secondary microcephaly, Short nose, Hypoplasia of the maxilla, Micrognathia, Malar flattening	ORPHA:79113
Distal Xq28 Microduplication Syndrome	Cafe-au-lait spot, Hypoplasia of the maxilla, Microcephaly, Epistaxis, Broad nasal tip, Aplasia/H...	ORPHA:293939
Developmental And Epileptic Encephalopathy 75	Secondary microcephaly, Short nose, Anteverted nares, Proptosis, Hypertelorism, Wide nasal bridge	OMIM:618437
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge	OMIM:615716
Pde4D Haploinsufficiency Syndrome	Short nose, Hypotelorism, Abnormal dental enamel morphology, Mandibular prognathia, Prominent nas...	ORPHA:439822
Cardiofaciocutaneous Syndrome	Multiple lentigines, Sparse or absent eyelashes, Low posterior hairline, Sparse hair, Generalized...	ORPHA:1340
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Microphthalmia, Hypotelorism, Brittle hair, Tiger tail banding, Carious tee...	OMIM:616395
Fetal Hydantoin Syndrome	Short nose, Hypoplastic fingernail, Low posterior hairline, Depressed nasal ridge, Microcephaly, ...	ORPHA:1912
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel, Microcephaly, Abnormality of the hairl...	OMIM:614886
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Wide nose, Mandibular prognathia, Depressed nasal ridge	ORPHA:2831
Hallermann-Streiff Syndrome	Supernumerary tooth, Microphthalmia, Reduced bone mineral density, Tracheomalacia, Abnormality of...	ORPHA:2108
Walker-Warburg Syndrome	Microcephaly, Microphthalmia, Macrocephaly, Anophthalmia	ORPHA:899
Leukodystrophy, Hypomyelinating, 10	Secondary microcephaly, Short nose, Anteverted nares, Failure to thrive, Malar flattening, Promin...	OMIM:616420
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Anteverted nares, Deeply set eye, Hypertelorism, Depressed nasal bridge	OMIM:613443
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Macrocephaly, Anophthalmia, Recurrent patellar dislocation, Long eyelashes	OMIM:615877
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Short nose, Primary microcephaly, Small for gestational age	ORPHA:289266
Ohdo Syndrome	Short nose, Anteverted nares, Hypoplasia of teeth, Sparse eyebrow, Micrognathia, Joint hypermobil...	OMIM:249620
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Geroderma Osteodysplasticum	Osteopenia, Abnormal hair morphology, Hyperextensibility of the finger joints, Mandibular prognat...	OMIM:231070
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Nail dysplasia, Short nose, Inguinal hernia, Narrow nasal bridge, Microcephaly, Failure to thrive...	ORPHA:544503
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Relative macrocephaly, Proptosis, Low posterior hairline, Sparse hair, Antev...	OMIM:115150
Curry-Jones Syndrome	Hypopigmented skin patches, Microphthalmia, Generalized hirsutism, Craniosynostosis, Hypertelorism	ORPHA:1553
Momo Syndrome	Large for gestational age, Abnormal bone ossification, Macrocephaly, Bilateral microphthalmos, Wi...	ORPHA:2563
Baker-Gordon Syndrome	Short nose, Prominent nasal tip	OMIM:618218
Congenital Disorder Of Glycosylation, Type Il	Short nose, Microcephaly, Failure to thrive, Lipodystrophy, Hypertelorism, Depressed nasal bridge...	OMIM:608776
Harel-Yoon Syndrome	Short nose, Mandibular prognathia, Micrognathia, Deeply set eye	OMIM:617183
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Warburg Micro Syndrome 2	Secondary microcephaly, Short nose, Microphthalmia, Microcephaly, Low anterior hairline, Flexion ...	OMIM:614225
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Distal Limb Deficiencies-Micrognathia Syndrome	Macrocephaly, Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle, Hypoplasia o...	ORPHA:1307
Rabin-Pappas Syndrome	Retrognathia, Postnatal macrocephaly, Tracheomalacia, Highly arched eyebrow, Optic nerve hypoplas...	OMIM:620155
Atelosteogenesis, Type Iii	Flat acetabular roof, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Knee dislocation...	OMIM:108721
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Macrocephaly, Cubitus valgus, Mandibular prognathia, Patchy alopecia, Microcephaly, Hypoplasia of...	OMIM:300534
16P11.2P12.2 Microdeletion Syndrome	Short nose, Long nose, Hypotelorism, Anteverted nares, Multiple cafe-au-lait spots, Camptodactyly...	ORPHA:261211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Microphthalmia, Flexion contracture	OMIM:613155
Macrocephaly/Autism Syndrome	Large for gestational age, Postnatal macrocephaly, Short nose, Biparietal narrowing, Obesity, Dep...	OMIM:605309
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Low posterior hairline, Microcephaly, Recurrent sinusitis, Joint hypermobi...	OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Macrocephaly, Narrow nasal bridge, Hyperextensibility of the finger joints, Hypoplasia...	OMIM:309520
Cockayne Syndrome B	Microphthalmia, Microcephaly, Sparse hair, Delayed eruption of primary teeth, Severe failure to t...	OMIM:133540
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Abnormality of the nose, Hypopigmentatio...	ORPHA:999
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Thick nasal alae, Micrognathia, Hypertelorism	ORPHA:163961
Otopalatodigital Syndrome, Type I	Nail dysplasia, Limited elbow extension, Nail dystrophy, Capitate-hamate fusion, Short nose, Disl...	OMIM:311300
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Microphthalmia	OMIM:301108
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Dental malocclusion, Hyperconvex thumb nails, Mandibular prognathia...	ORPHA:3079
Toluene Embryopathy	Short nose, Biparietal narrowing, Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone	ORPHA:1920
Moebius Syndrome	Microphthalmia, Abnormality of the nail, Camptodactyly, Micrognathia, Abnormal nasopharynx morpho...	OMIM:157900
Incontinentia Pigmenti	Nail dysplasia, Nail dystrophy, Microphthalmia, Ridged nail, Microcephaly, Sparse hair, Fine hair...	OMIM:308300
Vacterl With Hydrocephalus	Retrognathia, Microphthalmia, Inguinal hernia, Anophthalmia, Femoral hernia, Micrognathia, Hip di...	ORPHA:3412
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Wide nasal bridge, Depressed nasal bridge	ORPHA:782
Distal Duplication 5Q	Short nose, Microcephaly, Carious teeth, Micrognathia, Prominent nasal bridge, Craniosynostosis, ...	ORPHA:96097
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Congenital hip dislocation, Microcephaly, Micrognathia, Recurrent upper respiratory t...	ORPHA:3078
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Microphthalmia, Horizontal eyebrow, Hypertelorism, Microretrognathia, Bulbous nose, W...	OMIM:618571
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Progressive microcephaly, Anteverted nares, Increased laxity of ankles, Hypoplasia...	ORPHA:481152
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Prominent metopic ridge, Microcephaly, Bulbous nose, Depressed...	ORPHA:261144
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Facial hirsutism, Narrow nasal bridge, Low hanging columella, Anteverted nares, Delay...	OMIM:619383
Microphthalmia, Syndromic 2	Supernumerary tooth, Microphthalmia, Delayed eruption of teeth, Anophthalmia, Contracture of the ...	OMIM:300166
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Microcephaly, Micrognathia, Wide nasal bridge, Ocular albinism	ORPHA:1352
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Patchy osteosclerosis, Microcephaly, Micrognathia, Convex nasal ridge, Depressed ...	OMIM:241410
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Mandibular prognathia, Hypoplasia of the maxilla, Camptodactyly of finger	ORPHA:1101
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Microphthalmia, Inguinal hernia, Microcephaly, Micrognathia, General...	ORPHA:2505
Cardioacrofacial Dysplasia 1	Nail dysplasia, Overhanging nasal tip, Genu valgum, Hypoplasia of the maxilla	OMIM:619142
Warburg Micro Syndrome 4	Secondary microcephaly, Microphthalmia, Anteverted nares, Hirsutism, Low anterior hairline, Flexi...	OMIM:615663
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hypoplastic fingernail, Inguinal hernia, Tracheomal...	OMIM:608022
Acrofacial Dysostosis, Catania Type	Short nose, Spina bifida occulta, Microcephaly, Carious teeth, Abnormal hair pattern, Microretrog...	ORPHA:1786
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Generalized hirsutism, Low anterior hairline...	ORPHA:2095
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Convex nasal ridge, Malar flattening, Choanal atresia	ORPHA:93262
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina	OMIM:611040
Fraser Syndrome 1	Bilateral microphthalmos, Cleft ala nasi, Small nail, Anophthalmia, Wide nose, Absent eyelashes, ...	OMIM:219000
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Anteverted nares, Thick nasal alae, Microcephaly, Wide nasal bridge	ORPHA:1942
Marden-Walker Syndrome	Microphthalmia, Inguinal hernia, Wide anterior fontanel, Anteverted nares, Camptodactyly, Congeni...	OMIM:248700
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Optic nerve hypoplasia, Mandibular prognathia, Micrognathia, Deeply set eye	ORPHA:496790
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Bilateral microphthalmos, Inguinal hernia, Anophthalmia, Microgn...	OMIM:601186
19P13.13 Microdeletion Syndrome	Short nose, Macrocephaly, Optic nerve hypoplasia, Anteverted nares, Long eyelashes, Cafe-au-lait ...	ORPHA:357001
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Short nose, Tarsal synostosis, Abnormally large globe, Proximal ra...	ORPHA:363417
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Micrognathia, Microphthalmia, Depressed nasal ridge	ORPHA:163966
Robinow Syndrome, Autosomal Dominant 2	Short nose, Macrocephaly, Calvarial osteosclerosis, Anteverted nares, Proptosis, Camptodactyly, M...	OMIM:616331
Cenani-Lenz Syndrome	Short nose, Abnormal dental enamel morphology, Proptosis, Synostosis of carpal bones, Absent fing...	ORPHA:3258
3Q29 Microdeletion Syndrome	Short nose, Microphthalmia, Macrocephaly, Microcephaly, Abnormality of skin pigmentation, Failure...	ORPHA:65286
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Delayed cranial suture closure, Failure to thrive, Malar flattening...	OMIM:613038
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Abnormal hair morphology, Hyperpigmented nevi, Optic nerve hypoplasia, ...	OMIM:607597
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Hypotelorism, Small nail, Anteverted nares, Micr...	OMIM:612530
Bent Bone Dysplasia Syndrome 1	Abnormally large globe, Hirsutism, Coronal craniosynostosis, Decreased calvarial ossification, Mi...	OMIM:614592
Microcephaly-Micromelia Syndrome	Convex nasal ridge, Microphthalmia, Wide nose, Humeroradial synostosis, Microcephaly, Micrognathi...	OMIM:251230
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Inguinal hernia, Atrophic scars, Camptodactyly, Persistent open anterior fontanelle, ...	OMIM:615539
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Cat-Eye Syndrome	Microphthalmia, Hypertelorism	ORPHA:195
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Microphthalmia, Inguinal hernia, Joint contracture of the 5th finger, Mandibular pr...	OMIM:618914
Holoprosencephaly 7	Short nose, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Midline defect of the nose, H...	OMIM:610828
Congenital Rubella Syndrome	Microphthalmia, Anemia, Microcephaly, Abnormality of retinal pigmentation, Thrombocytopenia, Sple...	ORPHA:290
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol...	ORPHA:1458
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Osteoglophonic Dysplasia	Osteopenia, Short nose, Inguinal hernia, Delayed eruption of teeth, Anteverted nares, Eruption fa...	OMIM:166250
Ruvalcaba Syndrome	Hypopigmented skin patches, Short nose, Inguinal hernia, Synostosis of carpal bones, Microcephaly...	ORPHA:3121
Desmosterolosis	Short nose, Macrocephaly, Anteverted nares, Relative macrocephaly, Microcephaly, Failure to thriv...	OMIM:602398
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Convex nasal ridge, Mandibular prognathia	ORPHA:1540
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcephaly, Convex nasal ridge, Alopecia	ORPHA:85284
Biemond Syndrome Type 2	Obesity, Microphthalmia	ORPHA:141333
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Microphthalmia, Hypertelorism, Prominent nasal bridge	OMIM:618652
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Bulbous nose, Prominent nasal bridge, Hyperconvex nail	OMIM:613870
Jaberi-Elahi Syndrome	Short nose, Brittle hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Joint stiffness, M...	OMIM:617988
Nance-Horan Syndrome	Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Prominent nasal bri...	OMIM:302350
Angelman Syndrome	Secondary microcephaly, Mandibular prognathia, Hypopigmentation of the skin, Hypoplasia of the ma...	OMIM:105830
Isolated Arrhinia	Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum, Absent nasal ...	ORPHA:1134
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Periorbital hyperpigmentation, Brittle hair, Absent eyelashes, Hypoplastic nipples, U...	OMIM:305100
Peho Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:260565
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti...	ORPHA:79477
Frontofacionasal Dysplasia	Short nose, Microphthalmia, Midline defect of the nose, Frontal cutaneous lipoma, Hypoplasia of t...	OMIM:229400
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Proptosis, Micrognathia, Optic nerve aplasia, Malar flattening, Hypertelorism, Unde...	ORPHA:264200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Highly arched eyebrow, Anteverted nares, Micrognathia, Low anterior hairline, Abn...	ORPHA:404440
Aarskog-Scott Syndrome	Short nose, Inguinal hernia, Hyperextensibility of the finger joints, Anteverted nares, Hypoplasi...	OMIM:305400
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Microphthalmia, Wormian bones, Osteoporosis, Joint hypermobility, Increased susceptib...	ORPHA:2788
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short nose, Biparietal narrowing, Microcephaly, Obesity, Microgn...	ORPHA:251071
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Micrognathia, Short nose, Depressed nasal bridge	OMIM:614744
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Wide nose, Delayed epiphyseal ossification, Anteverted nares, Flat acetabular roof, W...	OMIM:613320
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Macrocephaly, Obesity, Deeply set eye, Bulbous nose, Depressed nasal bridge	OMIM:618430
Crouzon Syndrome	Deviated nasal septum, Lambdoidal craniosynostosis, Mandibular prognathia, Coronal craniosynostos...	OMIM:123500
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge	OMIM:122880
Coffin-Lowry Syndrome	Advanced eruption of teeth, Hypoplastic fingernail, Craniofacial hyperostosis, Hyperconvex finger...	ORPHA:192
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Hypotelorism, Highly arched eyebrow, Anteverted nares, Synophrys, Microcephaly, Thick...	OMIM:614701
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight, Microcephaly, Flexion contracture	OMIM:614833
Distal Deletion 10Q	Short nose, Hypotelorism, Spina bifida occulta, Proptosis, Prominent metopic ridge, Microcephaly,...	ORPHA:96148
Jacobsen Syndrome	Short nose, Microphthalmia, Macrocephaly, Anteverted nares, Abnormal eyelash morphology, Microcep...	OMIM:147791
Prader-Willi Syndrome Due To Translocation	Short nose, Retrognathia, Underdeveloped nasolabial fold, Hypotelorism, Hypopigmentation of hair,...	ORPHA:177907
Acrodysostosis 1 With Or Without Hormone Resistance	Epiphyseal stippling, Dislocated radial head, Delayed eruption of teeth, Mandibular prognathia, C...	OMIM:101800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Generalized joint hypermobility, Short nose, Macrocephaly, Dental malocclusion, Wide ...	ORPHA:251028
Galloway-Mowat Syndrome 1	Secondary microcephaly, Microphthalmia, Small nail, Narrow nasal ridge, Hypopigmentation of the s...	OMIM:251300
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Long nose, Short nose, Medial flaring of the eyebrow, Camptodact...	OMIM:617602
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Scarring alopecia of scalp, Thick nasal alae, Persistence of primary teeth, Ename...	OMIM:618727
Raine Syndrome	Short nose, Subperiosteal bone formation, Highly arched eyebrow, Increased bone mineral density, ...	OMIM:259775
Recon Progeroid Syndrome	Hyperconvex thumb nails, Narrow nasal ridge, Anteverted nares, Hirsutism, Microcephaly, Prominent...	OMIM:620370
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Hypoplasia of the frontal bone, Sparse eyelashes, Camptodactyly of finger, Sparse...	ORPHA:306542
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Microcephaly, Failure to thrive, Hypertelorism, Prominent nasal bridge, Prominent eye...	OMIM:619179
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Supernumerary tooth, Microphthalmia, Dental mal...	OMIM:234100
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Small nail, Mandibular prognathia, Long eyebrows, Long eyelashes, Malar flattenin...	OMIM:201180
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Short nose, Wide anterior fontanel, Delayed cranial suture clo...	OMIM:230740
Microphthalmia, Syndromic 5	Joint hypermobility, Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Microphthalmia With Limb Anomalies	Microphthalmia, Tarsal synostosis, True anophthalmia, Camptodactyly of 2nd-5th fingers, Synostosi...	ORPHA:1106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Small nail, Synophrys, Cafe-au-lait spot, Failure to thrive, Prominent metopic ri...	OMIM:608670
Frontorhiny	Microphthalmia, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cam...	ORPHA:391474
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Carpenter Syndrome 1	Genu valgum, Lambdoidal craniosynostosis, Spina bifida occulta, Camptodactyly, Persistence of pri...	OMIM:201000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Cleft ala nasi, Breast aplasia, Wide nose, Mandibular prognathia, Hypoplasia o...	ORPHA:3044
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Short nose, Microcephaly, Malar flat...	OMIM:616723
Six2-Related Frontonasal Dysplasia	Macrocephaly, Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Broad nasal tip, Apla...	ORPHA:488437
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Nager Syndrome	Joint stiffness, Hypoplasia of the maxilla, Micrognathia, Abnormal nasal morphology, Sparse lower...	ORPHA:245
Oculocerebral Hypopigmentation Syndrome, Cross Type	Short nose, Anemia, Hypopigmentation of hair, Inguinal hernia, Anteverted nares, Limitation of jo...	ORPHA:2719
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short nose, Toenail dysplasia, Spina bifida occulta, Anterior open-bite malocclusion,...	OMIM:617877
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Deafness, X-Linked 7	Wide nasal bridge, Thick eyebrow, Unilateral microphthalmos	OMIM:301018
Chops Syndrome	Short nose, Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Anteverted nares, Propto...	OMIM:616368
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Highly arched eyebrow, Optic nerve hypoplasia, Proptosis, Sh...	OMIM:602535
C Syndrome	Short nose, Dislocated radial head, Anteverted nares, Omphalocele, Microcephaly, Failure to thriv...	OMIM:211750
Developmental Delay With Or Without Dysmorphic Facies And Autism	Nail dysplasia, Congenital diaphragmatic hernia, Small nail, Highly arched eyebrow, Microcephaly,...	OMIM:618454
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Hypoplastic fingernail, Short nasal septum, Anophthalm...	OMIM:113620
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Delayed cranial suture closure, Micrognathia, Shallow orbits	ORPHA:1129
Intellectual Developmental Disorder, Autosomal Dominant 1	Secondary microcephaly, Short nose, Retrognathia, Highly arched eyebrow, Mandibular prognathia, L...	OMIM:156200
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Malar flattening, Short nose	OMIM:614524
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Macrocephaly, Inguinal hernia, Anteverted nares, Failure to thrive, Metopic synostosis	OMIM:613735
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Oculofaciocardiodental Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Highly arched eyebrow, Bi...	ORPHA:2712
Squalene Synthase Deficiency	Retrognathia, Optic nerve hypoplasia, Elbow flexion contracture, Abnormality of hair pigmentation...	OMIM:618156
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Lissencephaly 8	Microcephaly, Microphthalmia	OMIM:617255
20Q11.2 Microduplication Syndrome	Limited elbow extension, Short nose, Retrognathia, Abnormal nasal bridge morphology, Inguinal her...	ORPHA:363659
Rhombencephalosynapsis	Short nose, Macrocephaly, Anteverted nares, Septo-optic dysplasia, Microretrognathia, Hypertelorism	ORPHA:59315
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Microcephaly, Failure to thri...	ORPHA:2315
Cerebrofaciothoracic Dysplasia	Short nose, Macrocephaly, Wide nose, Low posterior hairline, Synophrys, Abnormal hair pattern, Th...	ORPHA:1394
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Bilateral choanal atresia, Hyperpigmentation of the skin, Absent eyelashes, Patch...	OMIM:106260
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Alkuraya-Kucinskas Syndrome	Short nose, Macrocephaly, Hypotelorism, Anteverted nares, Camptodactyly, Micrognathia, Arthrogryp...	OMIM:617822
Meier-Gorlin Syndrome 3	Breast hypoplasia, Patellar hypoplasia, Absent sternal ossification, Tracheomalacia, Aplasia/Hypo...	OMIM:613803
Kleefstra Syndrome	Short nose, Advanced eruption of teeth, Tracheomalacia, Highly arched eyebrow, Delayed eruption o...	ORPHA:261494
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Large for gestational age, Short nose, Lambdoidal craniosynostosis, Macrocephaly, Ant...	OMIM:615398
Craniolenticulosutural Dysplasia	Osteopenia, Macrocephaly, Brittle hair, Delayed eruption of teeth, Wide anterior fontanel, Anteve...	OMIM:607812
Trisomy 20P	Short nose, Reduced bone mineral density, Thick hair, Inguinal hernia, Highly arched eyebrow, Ant...	ORPHA:261318
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge	OMIM:620292
Trisomy 18	Congenital diaphragmatic hernia, Short nose, Microphthalmia, Cyclopia, Cachexia, Choanal atresia,...	ORPHA:3380
Meier-Gorlin Syndrome 4	Breast hypoplasia, Genu recurvatum, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Patell...	OMIM:613804
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Rodrigues Blindness	Fine hair, Microphthalmia, Sparse hair, Narrow nasal bridge	OMIM:268320
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Treacher-Collins Syndrome	Retrognathia, Microphthalmia, Abnormal hair morphology, Abnormality of bone mineral density, Abse...	ORPHA:861
Developmental And Epileptic Encephalopathy 1	Microcephaly, Microphthalmia	OMIM:308350
Incontinentia Pigmenti	Irregular hyperpigmentation, Microphthalmia, Broad nail, Umbilical hernia, Osteolysis, Abnormal h...	ORPHA:464
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Short nose, Genu valgum, Delayed epiphyseal ossification, Mandibular prognathia, Unde...	OMIM:616007
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
16P12.1P12.3 Triplication Syndrome	Short nose, Retrognathia, Failure to thrive, Thick eyebrow, Malar flattening, Bulbous nose	ORPHA:485405
Monosomy 9P	Congenital diaphragmatic hernia, Short nose, Microphthalmia, Thin nail, Highly arched eyebrow, An...	ORPHA:261112
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Epiphyseal stippling, Stippled calcification in carpal bones, Patchy alopecia, Sp...	OMIM:302960
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Tracheomalacia, Wide anterior fontanel, Anteverted nares, Microcephaly, Micrognathia,...	OMIM:217980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Hypoplastic fingernail, Microcephaly, Broad nasal tip, Left unicoronal synostosis, Hy...	OMIM:614749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Stevenson-Carey Syndrome	Microphthalmia, Anteverted nares, Prominent nasal tip, Camptodactyly, Underdeveloped nasal alae, ...	OMIM:611961
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Fanconi Anemia, Complementation Group I	Microphthalmia, Fused cervical vertebrae, Optic nerve hypoplasia, Decreased body weight, Cafe-au-...	OMIM:609053
Fraser Syndrome	Microphthalmia, Cleft ala nasi, Anophthalmia, Underdeveloped nasal alae, Midline nasal groove, Om...	ORPHA:2052
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Narrow nasal bridge, Abnormality of skin pigmentation, Abnormal fingernail morpho...	ORPHA:1806
Van Maldergem Syndrome 2	Osteopenia, High anterior hairline, Hip subluxation, Tracheomalacia, Wide anterior fontanel, Hypo...	OMIM:615546
Trichothiodystrophy	Numerous pigmented freckles, Retrognathia, Ridged nail, Microcephaly, Aplasia/Hypoplasia of the n...	ORPHA:33364
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu valgum, Dislocated radial head, Genu recurvatum, Wide anterior fontanel, Antever...	OMIM:182212
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Prominent nasal bridge, Deepl...	OMIM:243605
Kagami-Ogata Syndrome	Retrognathia, Anteverted nares, Frontal hirsutism, Hypoplasia of the maxilla, Micrognathia, Flexi...	OMIM:608149
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Obesity, Anteverted nares	OMIM:619854
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Choanal atresia, Synophrys, Deeply set eye, Bulbous nose, Depressed nasal bridge	ORPHA:284169
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Microphthalmia, Inguinal hernia, Anteverted nares, Microcephaly, Sparse hair, Hyper...	OMIM:616449
Weill-Marchesani Syndrome 1	Microspherophakia, Broad skull, Joint stiffness, Hypoplasia of the maxilla, Depressed nasal bridg...	OMIM:277600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia	OMIM:613730
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Nail dysplasia, Osteopenia, Short nose, Anteverted nares, Elbow flexion contracture, Shallow orbi...	OMIM:612394
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Short nose, Genu valgum, Anteverted nares, Delayed ossificat...	OMIM:271510
Glutamine Deficiency, Congenital	Anteverted nares, Short nose, Wide nasal bridge, Depressed nasal bridge	OMIM:610015
Teebi-Shaltout Syndrome	Microphthalmia, Highly arched eyebrow, Slow-growing hair, Camptodactyly, Microcephaly, Low anteri...	OMIM:272950
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Prominent frontal sinuses, Persistence of primary teeth, Microcephaly, Hyp...	OMIM:170390
Waardenburg Syndrome, Type 1	Premature graying of hair, Mandibular prognathia, Underdeveloped nasal alae, Heterochromia iridis...	OMIM:193500
Van Maldergem Syndrome 1	Osteopenia, Tracheomalacia, Wide anterior fontanel, Camptodactyly, Hypoplasia of the maxilla, Rad...	OMIM:601390
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Inguinal hernia, Highly arched eyebrow, Anteverted nares, Femoral hernia, Synophrys, ...	ORPHA:96147
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Broad eyebrow, Anteverted nares, Choanal atresia, Micrognathia	ORPHA:494344
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, Highly arched eyebrow, Progressive microcephaly, Proptosis, Sy...	OMIM:615803
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Choanal stenosis, Depre...	OMIM:619859
Fibrochondrogenesis 1	Short nose, Widely patent coronal suture, Hypoplastic fingernail, Wide anterior fontanel, Antever...	OMIM:228520
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Progressive microcephaly, Anteverted nares, Choanal atresia, Microcephaly, Micrognath...	OMIM:610536
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Synophrys, Microcephaly, Hypoplasia of the maxilla, Thick eyebrow, Promine...	OMIM:609460
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, Anosmia, White forel...	OMIM:613266
8Q21.11 Microdeletion Syndrome	Microphthalmia, Wide nose, Camptodactyly of finger, Iris hypopigmentation, Micrognathia, Abnormal...	ORPHA:284160
Saethre-Chotzen Syndrome	Convex nasal ridge, Proximal radio-ulnar synostosis, Delayed cranial suture closure, Hypoplasia o...	ORPHA:794
Meckel Syndrome	Microphthalmia, Anophthalmia, Depressed nasal ridge, Microcephaly, Micrognathia, Aplasia/Hypoplas...	ORPHA:564
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Underdeveloped nasal alae, Camptodactyly, Micrognathia, Hypertelorism, Wide nasal...	OMIM:614230
Cerebrofacioarticular Syndrome	Osteopenia, Bilateral choanal atresia/stenosis, Tracheomalacia, Camptodactyly, Hypoplasia of the ...	ORPHA:314679
Pfeiffer Syndrome Type 1	Short nose, Bicoronal synostosis, Proptosis, Hypertelorism, Depressed nasal bridge	ORPHA:93258
Desmosterolosis	Abnormality of the nose, Short nose, Osteopetrosis, Macrocephaly, Retrognathia, Increased bone mi...	ORPHA:35107
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Apl...	ORPHA:1775
Fontaine Progeroid Syndrome	Retrognathia, Microphthalmia, Small nail, Proptosis, Low posterior hairline, Microcephaly, Umbili...	OMIM:612289
Charge Syndrome	Microphthalmia, Delayed eruption of teeth, Highly arched eyebrow, Abnormality of bone mineral den...	ORPHA:138
3P25.3 Microdeletion Syndrome	Microphthalmia, Anteverted nares, Mandibular prognathia, Micrognathia, Knee flexion contracture, ...	ORPHA:435638
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Hip subluxation, Inguinal hernia, Prominent metopic ridge, Microcephaly, Failure to t...	OMIM:613457
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Optic nerve aplasia, Vertebra...	OMIM:206900
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples, Microcephaly, Micrognathia, Depressed nasal bridge	OMIM:156610
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Proptosis, Choanal stenosis, Craniosyn...	ORPHA:1790
Stuve-Wiedemann Syndrome 1	Talipes valgus, Contracture of the proximal interphalangeal joint of the 5th finger, Short nose, ...	OMIM:601559
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Anemia, Microcephaly, Bone marrow hypocellularity	OMIM:617244
Otopalatodigital Syndrome Type 2	Short nose, Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Hypopl...	ORPHA:90652
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
1P21.3 Microdeletion Syndrome	Short nose, Macrocephaly, Obesity, Micrognathia, Broad nasal tip, Joint hypermobility, Deeply set...	ORPHA:293948
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Failure to thrive, Hypertelorism, Wide nasal bridge, Depressed nasa...	OMIM:616430
Schneckenbecken Dysplasia	Short nose, Macrocephaly, Flat acetabular roof, Advanced tarsal ossification, Malar flattening, A...	OMIM:269250
Gaucher Disease, Perinatal Lethal	Short nose, Retrognathia, Anteverted nares, Decreased body weight, Microcephaly, Micrognathia, Ar...	OMIM:608013
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Baller-Gerold Syndrome	Short nose, Abnormal carpal morphology, Hypotelorism, Narrow nasal bridge, Aplasia/Hypoplasia of ...	ORPHA:1225
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Cervical C2/C3 vertebral fusion, Wide nose, Delayed eru...	OMIM:211380
3C Syndrome	Short nose, Macrocephaly, Hypoplastic fingernail, Inguinal hernia, Micrognathia, Hypertelorism, W...	ORPHA:7
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Depressed nasal bridge, Malar flattening, Joint hypermobility,...	OMIM:618590
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Microphthalmia, Microcytic anemia	OMIM:618805
Khan-Khan-Katsanis Syndrome	Trichiasis, Short nose, Anemia, Highly arched eyebrow, Corneal scarring, Microcephaly, Failure to...	OMIM:618460
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Microphthalmia, Inguinal hernia, Abnormal adipose tissue morphol...	ORPHA:2092
Galloway-Mowat Syndrome 3	Microphthalmia, Camptodactyly, Microcephaly, Failure to thrive, Micrognathia, Deeply set eye, Hyp...	OMIM:617729
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Bilateral microphthalmos	ORPHA:77299
Bannayan-Riley-Ruvalcaba Syndrome	Irregular hyperpigmentation, Short nose, Macrocephaly, Wide nose, Lipoma, Cachexia, Anteverted na...	ORPHA:109
Shprintzen-Goldberg Syndrome	Osteopenia, Retrognathia, Genu valgum, Anteverted nares, Joint stiffness, Camptodactyly of finger...	ORPHA:2462
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Unicoronal synostosis, Relative macrocephaly, Flat acetabular roof, Omphalocele, ...	OMIM:616300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Low hanging columella, Joint hypermobility, Overhanging nasal tip, Deeply set eye...	OMIM:618494
Meier-Gorlin Syndrome 6	Short nose, Tracheobronchomalacia, Anteverted nares, Underdeveloped nasal alae, Depressed nasal r...	OMIM:616835
17Q12 Microduplication Syndrome	Microphthalmia, Deeply set eye, Synophrys	ORPHA:261272
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Hyperpigmentation of the skin, Pancytopenia, Reticulocytopenia, Cafe-au-l...	OMIM:600901
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Epistaxis, Melanocytic nevus, Albinism, F...	OMIM:203300
Coffin-Siris Syndrome	Short nose, Wide nasal base, Small nail, Delayed eruption of teeth, Hypoplastic fifth toenail, An...	ORPHA:1465
Alg9-Cdg	Short nose, Abnormal bone ossification, Low insertion of columella, Wide anterior fontanel, Delay...	ORPHA:79328
2Q31.1 Microdeletion Syndrome	Microphthalmia, Inguinal hernia, Abnormal hair morphology, Proptosis, Synophrys, Prominent metopi...	ORPHA:251014
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Hyperpigmentation of the skin, Pancytopenia, Reticulocytopenia, Cafe-au-l...	OMIM:227645
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short nose, Inguinal hernia, Joint contracture of the 5th finger, Highly arched eyebr...	ORPHA:363611
Degcags Syndrome	Premature graying of hair, Retrognathia, Microphthalmia, Hypopigmentation of the skin, Proptosis,...	OMIM:619488
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Macrocephaly, Mandibular prognathia, Microcephaly, Microretrognathia, Hypoplasia of t...	OMIM:613603
Cleft Lip/Palate	Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o...	ORPHA:199306
Peho Syndrome	Short nose, Anteverted nares, Limitation of joint mobility, Biparietal narrowing, Microcephaly, F...	ORPHA:2836
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Linear hyperpigmentation, Lipoma, Hypoplasia of the iris, Multiple central nervou...	OMIM:613001
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Short nose, Hypopigmentation of hair, Anteverted nares, Micrognathia, Prominent nasal b...	ORPHA:1974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Progressive microcephaly, Microcephaly, Flexion contracture	OMIM:615249
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Delayed cranial suture closure, Depressed nasal tip, Mi...	OMIM:620005
Kaufman Oculocerebrofacial Syndrome	Short nose, Anteverted nares, Congenital hip dislocation, Microcephaly, Failure to thrive, Sparse...	OMIM:244450
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Microphthalmia, Macrocephaly, Hypoplastic thumbnail, Small nail,...	ORPHA:1692
Tetrasomy 18P	Microcephaly, Short nose	ORPHA:3307
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Supernumerary vertebral ossification centers, Macr...	OMIM:215140
Mietens Syndrome	Short nose, Wide nose, Joint stiffness, Microcephaly, Elbow ankylosis, Elbow dislocation, Wide na...	ORPHA:2557
Cousin Syndrome	Microphthalmia, Macrocephaly, Facial hirsutism, Dislocated radial head, Wrist flexion contracture...	OMIM:260660
Linear Nevus Sebaceus Syndrome	Irregular hyperpigmentation, Microphthalmia, Genu recurvatum, Biparietal narrowing, Melanocytic n...	ORPHA:2612
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia, Aplasia/Hypop...	ORPHA:3301
Nicolaides-Baraitser Syndrome	Wide nasal base, Low posterior hairline, Microcephaly, Sparse hair, Umbilical hernia, Inguinal he...	OMIM:601358
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Cafe-au-lait spot, Abnormality of skin p...	OMIM:227650
Fanconi Anemia, Complementation Group N	Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Microcephaly, Hypertelorism, Sm...	OMIM:610832
Mend Syndrome	Microphthalmia, Abnormal nasal bridge morphology, Wide anterior fontanel, Failure to thrive, Micr...	ORPHA:401973
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia, Hypertelorism	OMIM:266810
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Microphthalmia, Deeply set eye	OMIM:614526
Mosaic Trisomy 9	Microphthalmia, Hypotelorism, Small nail, Limitation of joint mobility, Biparietal narrowing, Mic...	ORPHA:99776
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Macrocephaly, Wide nasal ridge, Prominent nose	ORPHA:251061
1Q21.1 Microdeletion Syndrome	Microphthalmia, Inguinal hernia, Microcephaly, Failure to thrive, Joint hypermobility, Deeply set...	ORPHA:250989
Myhre Syndrome	Microphthalmia, Macrocephaly, Mandibular prognathia, Limitation of joint mobility, Camptodactyly,...	OMIM:139210
Roberts Syndrome	Microphthalmia, Knee flexion contracture, Proptosis, Synostosis of carpal bones, Wrist flexion co...	ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, Anosmia, Choanal atresia, Synophrys, Paranasal sinus hypoplasia,...	OMIM:603457
Femoral-Facial Syndrome	Short nose, Micrognathia, Inguinal hernia, Radioulnar synostosis	ORPHA:1988
Monosomy 9Q22.3	Large for gestational age, Short nose, Macrocephaly, Microphthalmia, Delayed eruption of teeth, U...	ORPHA:77301
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Anteverted nares, Absent eyelashes, Underdeveloped nasal alae, Absent eyebrow,...	ORPHA:920
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Microphthalmia, Inguinal hernia, Anteverted nares, Mandibular prognathia, Prominent...	ORPHA:464738
Coffin-Lowry Syndrome	Short nose, Inguinal hernia, Hyperconvex fingernails, Highly arched eyebrow, Hyperextensibility o...	OMIM:303600
Fanconi Anemia, Complementation Group F	Microphthalmia, Anemia, Hyperpigmentation of the skin, Cafe-au-lait spot, Failure to thrive, Micr...	OMIM:603467
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Camptodactyly of 2nd-5th fingers, Dislocated radial head, Underdeveloped nasa...	OMIM:600920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp hair, Choanal atr...	OMIM:129900
Miller-Dieker Lissencephaly Syndrome	Short nose, Inguinal hernia, Delayed eruption of teeth, Anteverted nares, Camptodactyly, Omphaloc...	OMIM:247200
Joubert Syndrome 14	Microphthalmia, Highly arched eyebrow, Prominent nasal bridge, Malar flattening, Deeply set eye, ...	OMIM:614424
Robinow Syndrome, Autosomal Dominant 3	Short nose, Macrocephaly, Anteverted nares, Proptosis, Camptodactyly, Long eyelashes, Omphalocele...	OMIM:616894
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Short nose, Anteverted nares, Prominent metopic ridge, Sparse lateral eyebrow, Micrognathia, Depr...	ORPHA:314655
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Optic nerve hypoplasia, Proptosis, Generalized osteo...	ORPHA:536471
Robinow Syndrome	Nail dysplasia, Short nose, High anterior hairline, Macrocephaly, Small nail, Anteverted nares, F...	ORPHA:97360
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Retrognathia, Wide nose, Progressive microcephaly, Failure to thrive, Micrognathia, L...	OMIM:608779
Opsismodysplasia	Short nose, Macrocephaly, Abnormally ossified vertebrae, Joint stiffness, Depressed nasal bridge	ORPHA:2746
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Cubitus valgus, Short n...	ORPHA:457395
White-Kernohan Syndrome	Short nose, Retrognathia, Hypotelorism, Anteverted nares, Underdeveloped nasal alae, Synophrys, H...	OMIM:619426
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Failure to thrive, Generalized hypertrichosis, Short nose	ORPHA:50810
Joubert Syndrome 21	Hypertelorism, Single naris, Chronic sinusitis, Anophthalmia	OMIM:615636
Barber-Say Syndrome	Wide nose, Delayed eruption of teeth, Anteverted nares, Mandibular prognathia, Hypoplastic nipple...	OMIM:209885
Orofaciodigital Syndrome Ii	Bifid nasal tip, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Broad nasa...	OMIM:252100
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Failure to thrive, Abnormality of the spleen, Elbow dislocation, Hi...	ORPHA:2538
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Decreased skull ossification, Asplenia, Failure to thrive, Hypoplastic ...	OMIM:602361
Intellectual Developmental Disorder, X-Linked 98	Secondary microcephaly, Short nose, Long nose, Anteverted nares, Mandibular prognathia, Underdeve...	OMIM:300912
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Short nose, Microphthalmia, Inguinal hernia, Small nail,...	OMIM:263650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Convex nasal ridge, Short nose, Genu valgum, Generalized hypopigmentation, Optic nerve hypoplasia...	OMIM:619321
Autosomal Dominant Robinow Syndrome	Retrognathia, Proptosis, Umbilical hernia, Hip dislocation, Inguinal hernia, Anteverted nares, Ri...	ORPHA:3107
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Retrognathia, Cubitus valgus, Anteverted nares, Frontal hirsutism, Failure to thrive,...	OMIM:617157
Meckel Syndrome 14	Retrognathia, Microphthalmia, Anteverted nares, Decreased calvarial ossification, Micrognathia, M...	OMIM:619879
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Microcephaly, Hypoplasia of the maxilla, Micrognathia, Patellar aplasia,...	OMIM:613805
Congenital Myopathy 22B, Severe Fetal	Short nose, Retrognathia, Shoulder flexion contracture, Elbow flexion contracture, Proptosis, Syn...	OMIM:620369
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Ataxia-Telangiectasia	Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair	ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short nose, Macrocephaly, Hypotelorism, Small nail, Camptodactyly, Low posterior hairline, Microc...	OMIM:309590
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Hypoplasia of teeth, Microphthalmia	ORPHA:2728
Schinzel-Giedion Midface Retraction Syndrome	Short nose, Thickened cortex of long bones, Anteverted nares, Wormian bones, Hypoplastic nipples,...	OMIM:269150
Mosaic Variegated Aneuploidy Syndrome 1	Short nose, Wide nose, Anteverted nares, Microcephaly, Micrognathia, Malar flattening, Hypertelor...	OMIM:257300
Classic Phenylketonuria	Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose, Progressive microcephaly, Hirsutism, Cessation of head growth, Failure to thrive, Mic...	OMIM:617527
Toriello-Lacassie-Droste Syndrome	Short nose, Macrocephaly, Anteverted nares, Proptosis, Failure to thrive, Generalized hyperpigmen...	ORPHA:3339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Low anterior hairline	OMIM:613153
Distal Deletion 9P	Short nose, Proptosis, Hernia, Hypertelorism, Wide nasal bridge	ORPHA:1642
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Highly arched eyebrow, Microcephaly, Sparse pubic hair, Wide nasal bridge, Depres...	OMIM:110100
Au-Kline Syndrome	Short nose, Retrognathia, Bifid nasal tip, Sagittal craniosynostosis, Prominent metopic ridge, Sp...	OMIM:616580
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Ankle flexion contracture, Severe failure to thrive, Bilateral microphthalmos, Hypo...	ORPHA:468631
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Large for gestational age, Short nose, Macrocephaly, Anteverted ...	OMIM:614080
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Macrocephaly, Anemia, Increased bone mineral density, Thickened cortex of long bo...	OMIM:127000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Microphthalmia	ORPHA:363741
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Short nose, Tarsal synostosis, Inguinal hernia, Anteverted nares, Enamel...	OMIM:272460
Traboulsi Syndrome	Retrognathia, Microphthalmia, Cubitus valgus, Wide nose, Prominent nose, Prominent nasal bridge, ...	OMIM:601552
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Microphthalmia	OMIM:601794
Microform Holoprosencephaly	Short nose, Cyclopia, Hypotelorism, Narrow nasal bridge, Anteverted nares, Choanal atresia, Micro...	ORPHA:280200
Familial Exudative Vitreoretinopathy	Microcephaly, Microphthalmia, Reduced bone mineral density	ORPHA:891
Wiedemann-Steiner Syndrome	Short nose, Abnormality of the elbow, Hyperextensibility at elbow, Synophrys, Long eyelashes, Fai...	ORPHA:319182
Ring Chromosome 7 Syndrome	Short nose, Genu valgum, Hypotelorism, Hyperpigmented nevi, Highly arched eyebrow, Anteverted nar...	ORPHA:1449
Trisomy 10P	Abnormality of the nose, Short nose, Retrognathia, Anteverted nares, Camptodactyly, Micrognathia,...	ORPHA:171929
Lathosterolosis	Anisopoikilocytosis, Short nose, Anteverted nares, Biparietal narrowing, Prominent metopic ridge,...	ORPHA:46059
Saethre-Chotzen Syndrome	Convex nasal ridge, Long nose, Lambdoidal craniosynostosis, Delayed cranial suture closure, Coron...	OMIM:101400
Pfeiffer Syndrome Type 2	Short nose, Tracheomalacia, Limitation of joint mobility, Choanal atresia, Proptosis, Malar flatt...	ORPHA:93259
Lathosterolosis	Short nose, Anteverted nares, Prominent nasal tip, Osteoporosis, Microcephaly, Micrognathia	OMIM:607330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Short nose, Eruption failure, Synophrys, Failure to thrive, Micrognathia,...	ORPHA:476126
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Short nose, Multiple joint dislocation, Acetabular dysplasia, Tracheomalacia, Large j...	ORPHA:536467
Plaa-Associated Neurodevelopmental Disorder	Short nose, Hyperextensibility of the finger joints, Hirsutism, Microcephaly, Failure to thrive, ...	ORPHA:521426
Joubert Syndrome 2	Microphthalmia, Macrocephaly, Failure to thrive, Metopic synostosis, Hypertelorism, Depressed nas...	OMIM:608091
Ayme-Gripp Syndrome	Short nose, Nail dystrophy, Broad eyebrow, Delayed cranial suture closure, Mandibular prognathia,...	OMIM:601088
Weiss-Kruszka Syndrome	Short nose, Hypoplastic fingernail, Highly arched eyebrow, Anteverted nares, Prominent metopic ri...	OMIM:618619
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Macrocephaly, Hypotelorism, Broad eyebrow, Small nail, Anteverted nares, Multiple...	OMIM:616975
Rubinstein-Taybi Syndrome 1	Retrognathia, Highly arched eyebrow, Dislocated radial head, Low posterior hairline, Microcephaly...	OMIM:180849
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Delayed epiphyseal ossification	OMIM:618618
Faciodigitogenital Syndrome, Autosomal Recessive	Short nose, Inguinal hernia, Widow's peak, Anteverted nares, Camptodactyly, Prominent nasal bridg...	OMIM:227330
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Mandibular prognathia, Wide nasal bridge	OMIM:601499
Fryns Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Hypoplastic fingernail, Anteverted nares, Omphal...	ORPHA:2059
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Mandibular prognathia, Microcephaly, Camptodactyly of finger, Hypertelorism, Supe...	ORPHA:1236
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Inguinal hernia, Delayed eruption of teeth, Sparse scalp hair, H...	OMIM:223370
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Wide nose, Multiple cafe-au-lait spots, Depressed nasal ridge, Microcephaly, Abno...	ORPHA:1052
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Retrognathia, Small nail, Dislocated radial head, Proptosis, Umbilical hernia, Jo...	OMIM:268310
Orofaciodigital Syndrome Type 4	Short nose, Retrognathia, Joint dislocation, Wide nose, Proptosis, Choanal atresia, Depressed nas...	ORPHA:2753
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Long nose, Short nose, Decreased proportion of CD8-positive T cells, Ante...	ORPHA:508533
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Short nose, Microphthalmia, Patellar hypoplasia, Inguinal hernia, Dislocated...	OMIM:609945
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Microcephaly, Broad nasal tip, Hypertelorism, Hypoplastic fifth fingernail, Wide nasa...	OMIM:614207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Marshall Syndrome	Short nose, Absent frontal sinuses, Knee osteoarthritis, Anteverted nares, Micrognathia, Malar fl...	OMIM:154780
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Inguinal hernia, Recurrent joint dislocation, Atrophic scars, Hypertelorism, Microret...	ORPHA:2953
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Highly arched eyebrow, Low insertion of columella, Anteverted nares, Underdeveloped n...	OMIM:619005
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Meier-Gorlin Syndrome 1	Breast hypoplasia, Osteochondritis dissecans, Genu valgum, Absent sternal ossification, Genu recu...	OMIM:224690
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Microspherophakia, Elbow flexion contracture, Broad skull, Joint stif...	OMIM:608328
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Hypoplastic nipples, Sparse scalp...	OMIM:604292
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Basal Cell Nevus Syndrome 1	Microphthalmia, Macrocephaly, Mandibular prognathia, Irregular ossification of hand bones, Hypert...	OMIM:109400
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Microphthalmia, Tracheomalacia, Micrognathia, Bifid nose, Hypopl...	ORPHA:268249
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Microphthalmia, Bilateral choanal atresia, Small nail, Low hanging columella, Und...	OMIM:620186
Kapur-Toriello Syndrome	Microphthalmia, Low hanging columella, Low posterior hairline, Camptodactyly of finger, Bulbous n...	OMIM:244300
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Microphthalmia, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Adams-Oliver Syndrome	Microphthalmia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Failure ...	ORPHA:974
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Choanal atresia, Cervical C5/C6 vertebrae fusio...	ORPHA:87
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Macrocephaly, Hypoplastic fifth toenail, Wide anterior fontanel, Congenital hip dislo...	ORPHA:457279
Chromosome 16P13.3 Duplication Syndrome	Short nose, Inguinal hernia, Wide nose, Tracheobronchomalacia, Anteverted nares, Hirsutism, Campt...	OMIM:613458
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Microphthalmia, Freckling, Pigmentary retinopathy	OMIM:610651
Autosomal Recessive Robinow Syndrome	Short nose, Supernumerary tooth, Macrocephaly, Inguinal hernia, Anteverted nares, Proptosis, Syno...	ORPHA:1507
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Breast hypoplasia, Short nose, Camptodactyly, Long eyelashes, Shallow orbits, Malar flattening, A...	OMIM:601353
3Mc Syndrome 2	Limited elbow movement, Highly arched eyebrow, Depressed nasal tip, Prominent nasal bridge, Radio...	OMIM:265050
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia, Hypotelorism, Omphalocele, Microcephaly, Micrognathia, Hypoplasia of th...	ORPHA:2166
Cowden Syndrome 5	Progressive macrocephaly, Micrognathia, Hypoplasia of the maxilla	OMIM:615108
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short nose, Biparietal narrowing, Underdeveloped nasal alae	ORPHA:2031
Zttk Syndrome	Short nose, Macrocephaly, Broad eyebrow, Relative macrocephaly, Curly hair, Hypoplasia of the max...	OMIM:617140
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Highly arched eyebrow, Anteverted nares, Microcephaly, Micrognathia, Hypertelorism, W...	ORPHA:2282
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Highly arched eyebrow, Microcephaly, Joint hypermobility, Frontal balding, Anteve...	OMIM:612474
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Short nose, Absent frontal sinuses, Anteverted nares, Mandibular prognathia, Microcephaly, Malar ...	OMIM:301040
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal macrocephaly, Bilateral microphthalmos, Calvarial osteosclerosis, Delayed cranial sutur...	ORPHA:93325
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Shallow orbits, Microcephaly, Hyperconvex nail, ...	OMIM:613406
Branchioskeletogenital Syndrome	Highly arched eyebrow, Mandibular prognathia, Abnormal dentin morphology, Absent nipple, Synophry...	ORPHA:1299
Blomstrand Lethal Chondrodysplasia	Short nose, Increased bone mineral density, Anteverted nares, Proptosis, Synostosis of joints, Mi...	ORPHA:50945
Fanconi Anemia, Complementation Group L	Microphthalmia, Depressed nasal tip, Cafe-au-lait spot, Micrognathia, Hypertelorism, Wide nasal b...	OMIM:614083
Microphthalmia, Syndromic 6	Retrognathia, Microphthalmia, Lambdoidal craniosynostosis, Anophthalmia, Microcephaly, Micrognathia	OMIM:607932
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Wide anterior fontanel, Low posterior hairline, Decreased calvarial ossification,...	OMIM:617925
Renpenning Syndrome 1	Microphthalmia, Brittle hair, Low hanging columella, Mandibular prognathia, Camptodactyly, Sparse...	OMIM:309500
Stickler Syndrome	Reduced bone mineral density, Cachexia, Proptosis, Joint hypermobility, Hip dislocation, Advanced...	ORPHA:828
Robinow Syndrome, Autosomal Dominant 1	Nail dysplasia, Short nose, Retrognathia, Macrocephaly, Inguinal hernia, Delayed eruption of teet...	OMIM:180700
Adenylosuccinase Deficiency	Microcephaly, Anteverted nares, Short nose, Prominent metopic ridge	OMIM:103050
Refsum Disease	Nail dysplasia, Microphthalmia, Anosmia, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:773
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Hypotelorism, Sparse hair, Gout, Convex nasal ridge, Small for gestational age, Depre...	OMIM:300661
Atelis Syndrome 2	Microphthalmia, Microcephaly, Micrognathia, Prominent nose, Bulbous nose	OMIM:620185
Cornelia De Lange Syndrome 6	Short nose, Inguinal hernia, Highly arched eyebrow, Anteverted nares, Synophrys, Microcephaly, Sp...	OMIM:620568
Arterial Tortuosity Syndrome	Short nose, Macrocephaly, Abnormal zygomatic bone morphology, Inguinal hernia, Femoral hernia, Ma...	ORPHA:3342
Congenital Muscular Dystrophy With Cerebellar Involvement	Microcephaly, Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Aicardi Syndrome	Microphthalmia, Sparse lateral eyebrow, Abnormality of skin pigmentation, Microcephaly, Abnormali...	ORPHA:50
Cowden Syndrome 6	Progressive macrocephaly, Micrognathia, Hypoplasia of the maxilla	OMIM:615109
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Monosomy 13Q14	Microphthalmia, Microcephaly, Micrognathia, Prominent nasal bridge, Hypertelorism, Wide nasal bridge	ORPHA:1587
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene...	ORPHA:3322
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Red hair	OMIM:609734
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short nose, Hip subluxation, Epiphyseal stippling, Wide anterior fontanel, Elbow flexion contract...	OMIM:271665
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Hip subluxation, Cervical C2/C3 vertebral fusion, Facial hirsutism, Thick hair, Highl...	ORPHA:444077
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Craniosynostosis And Dental Anomalies	Convex nasal ridge, Supernumerary tooth, Lambdoidal craniosynostosis, Wide nose, Delayed eruption...	OMIM:614188
Sponastrime Dysplasia	Relative macrocephaly, Congenital aphakia, Aplasia of the nasal bone, Joint hypermobility, Hip di...	ORPHA:93357
Microphthalmia, Lenz Type	Microcephaly, Camptodactyly of finger, Microphthalmia, Delayed eruption of teeth	ORPHA:568
Carey-Fineman-Ziter Syndrome	Microcephaly, Anteverted nares, Micrognathia, Short nose	ORPHA:1358
Kapur-Toriello Syndrome	Failure to thrive, Microphthalmia, Bulbous nose	ORPHA:2328
Ear-Patella-Short Stature Syndrome	Retrognathia, Breast aplasia, Mandibular aplasia, Microcephaly, Camptodactyly of finger, Hypoplas...	ORPHA:2554
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Breast hypoplasia, Short nose, Inguinal hernia, Delayed cranial ...	ORPHA:1272
Acrocallosal Syndrome	Short nose, Macrocephaly, Inguinal hernia, Wide anterior fontanel, Mandibular prognathia, Persist...	OMIM:200990
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Pelvis-Shoulder Dysplasia	Hypoplastic acetabulae, Microphthalmia, Spina bifida occulta, Congenital hip dislocation	OMIM:169550
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Synophrys, Microcephaly, Carious teeth, Micrognathia, Low anterior hairline, Hype...	OMIM:616734
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Short nose, Retrognathia, Hypotelorism, Highly arched eyebrow, A...	OMIM:301044
Okamoto Syndrome	Short nose, Abnormally large globe, Anteverted nares, Underdeveloped nasal alae, Proptosis, Promi...	ORPHA:2729
Omodysplasia 1	Limited elbow extension, Popliteal pterygium, Limited knee flexion/extension, Axillary pterygium,...	OMIM:258315
Atelosteogenesis, Type I	Short nose, Fused cervical vertebrae, Multinucleated giant chondrocytes in epiphyseal cartilage, ...	OMIM:108720
Trisomy 8P	Short nose, Retrognathia, Anteverted nares, Heterochromia iridis, Low posterior hairline, Microce...	ORPHA:264450
Fanconi Anemia	Hypopigmented skin patches, Irregular hyperpigmentation, Microphthalmia, Reduced bone mineral den...	ORPHA:84
Ogden Syndrome	Bifid nasal tip, Proptosis, Microcephaly, Umbilical hernia, Fine hair, Inguinal hernia, Depressed...	OMIM:300855
Pfeiffer Syndrome Type 3	Short nose, Tracheomalacia, Limitation of joint mobility, Choanal atresia, Proptosis, Hypertelori...	ORPHA:93260
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Anosmia, Omphalocele, Microcephaly, Choa...	OMIM:214800
Cadds	Short nose, Micrognathia	ORPHA:369942
16P13.11 Microdeletion Syndrome	Short nose, Cyclopia, Anteverted nares, Microcephaly, Camptodactyly of finger, Depressed nasal br...	ORPHA:261236
Opsismodysplasia	Short nose, Macrocephaly, Anteverted nares, Flat acetabular roof, Shallow orbits, Hypertelorism, ...	OMIM:258480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Shoulder subluxation, Fused cervical vertebrae, Optic nerve hypoplasia, Mandibula...	ORPHA:508498
Microcephaly 20, Primary, Autosomal Recessive	Microcephaly, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Joint stiffness, Umbilical hernia, Joint hypermobility, Patellar dislocation, Fin...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Microphthalmia, Macrocephaly, Optic nerve hypoplasia	OMIM:614643
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Microphthalmia, Inguinal hernia, Arthritis, Abnormal dental enamel mo...	ORPHA:567
Schinzel-Giedion Syndrome	Stiff elbow, Short nose, Retrognathia, Inguinal hernia, Delayed eruption of teeth, Wide anterior ...	ORPHA:798
Primrose Syndrome	Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Increased size of th...	OMIM:259050
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Fryns Syndrome	Large for gestational age, Microphthalmia, Facial hirsutism, Small nail, Anteverted nares, Aplasi...	OMIM:229850
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypotelorism	OMIM:619053
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Joint hemorrhage, Epistaxis, Epiphyseal stippling	OMIM:277450
Fanconi Anemia, Complementation Group D2	Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Cafe-au-lait spot, Abnormality of skin p...	OMIM:227646
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Macrocephaly	OMIM:616538
Cowden Syndrome 1	Progressive macrocephaly, Micrognathia, Hypoplasia of the maxilla	OMIM:158350
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Tracheobronchomalacia, Microcephaly, Craniosynostosis, Inguinal hernia, Pterygium, ...	OMIM:616462
Curry-Jones Syndrome	High anterior hairline, Microphthalmia, Unicoronal synostosis, Bicoronal synostosis, Hirsutism, W...	OMIM:601707
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
C Syndrome	Congenital diaphragmatic hernia, Short nose, Joint dislocation, Dislocated radial head, Anteverte...	ORPHA:1308
Yunis-Varon Syndrome	Microphthalmia, Severe failure to thrive, Bilateral microphthalmos, Narrow nasal base, Absent ste...	ORPHA:3472
Oculopalatocerebral Syndrome	Microcephaly, Microphthalmia	OMIM:257910
Distal Deletion 19P	Joint hypermobility, Hypoplasia of the maxilla, Thick eyebrow, Alopecia	ORPHA:96129
Specc1L-Related Hypertelorism Syndrome	Short nose, Advanced eruption of teeth, Highly arched eyebrow, Proptosis, Omphalocele, Thick eyeb...	ORPHA:1519
Achondrogenesis, Type Ia	Short nose, Unossified vertebral bodies, Anteverted nares, Abnormal hand bone ossification, Decre...	OMIM:200600
Duane-Radial Ray Syndrome	Microphthalmia, Fused cervical vertebrae, Optic disc hypoplasia, Spina bifida occulta, Shoulder d...	OMIM:607323
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Deeply set eye	OMIM:305390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Few cafe-au-lait spots, Joint hypermobility, Medial flaring of the ey...	OMIM:619503
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Short nose, Flexion contracture of toe, Hypoplastic fingernail, Hyperpigme...	ORPHA:280633
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Low posterior hairline, Joint stiffness, ...	ORPHA:199
Pallister-Hall Syndrome	Nail dysplasia, Short nose, Microphthalmia, Anteverted nares, Choanal atresia, Radial head sublux...	OMIM:146510
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Proximal tibial and fibular fusion, Craniosynostosis, Tarsal synostosis, Hirsutism, Elbow flexion...	ORPHA:95699
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Facial hirsutism, Dislocated radial head, Camptodactyly of finger, Micr...	ORPHA:2839
Congenital Fibrinogen Deficiency	Splenic rupture, Microphthalmia, Abnormality of the subungual region	ORPHA:335
Meckel Syndrome, Type 4	Microcephaly, Microphthalmia	OMIM:611134
Cockayne Syndrome Type 3	Premature graying of hair, Microphthalmia, Progressive microcephaly, Carious teeth, Enamel hypopl...	ORPHA:90324
Down Syndrome	Short nose, Leukemia, Depressed nasal ridge, Acute megakaryocytic leukemia, Obesity, Neutrophilia...	ORPHA:870
Lymphedema-Distichiasis Syndrome	Microphthalmia, Yellow nails, Distichiasis, Micrognathia, Cellulitis	OMIM:153400
Menke-Hennekam Syndrome 1	Short nose, Inguinal hernia, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, De...	OMIM:618332
Aicardi Syndrome	Microphthalmia, Lipoma, Anteverted nares, Sparse lateral eyebrow, Microcephaly, Block vertebrae, ...	OMIM:304050
Microphthalmia/Coloboma 9	Microphthalmia, Hypertelorism	OMIM:615145
Cockayne Syndrome	Microphthalmia, Dental malocclusion, Cachexia, Progressive microcephaly, Delayed eruption of prim...	ORPHA:191
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Anemia, Thick hair, Long eyelashes, Joint stiffness, Bone marrow hypocellularity, Abn...	ORPHA:505248
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Short nose, Hypertelorism, Omphalocele	OMIM:200995
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Proptosis, Microcephaly, Joint hypermobility, Anteverted nares, Dep...	OMIM:619475
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Wide nose, Small nail, Epiphyseal stippling, Wide anterior fontanel, Mandibular pro...	ORPHA:96334
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Hypotelorism, Inguinal hernia, Micrognathia, Umbilical hernia, Bulbous nose, Supe...	OMIM:613884
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Short nose, Congenital diaphragmatic hernia, Macrocephaly, Inguinal hernia, Small...	ORPHA:373
Vitreoretinochoroidopathy	Microphthalmia, Pigmentary retinopathy	OMIM:193220
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Hypotelorism, Omphalocele, Microcephaly, Aplasia of the nose	ORPHA:3186
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Osteochondrosis, Short nose, Supernumerary tooth, Retrognathia, Inguinal hernia, Breast aplasia, ...	ORPHA:268261
Pseudotrisomy 13 Syndrome	Microphthalmia, Cyclopia, Hypotelorism, Omphalocele, Microcephaly	OMIM:264480
Toriello-Carey Syndrome	Short nose, Wide anterior fontanel, Microcephaly, Sparse eyebrow, Micrognathia	ORPHA:3338
Lipodystrophy, Familial Partial, Type 7	Short nose, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, N...	OMIM:606721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Congenital contracture, Microcephaly, Micrognathia, Bupht...	OMIM:236670
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Macrocephaly, Optic nerve hypoplasia, Mandibular prognathia, Prominent nasal tip, Mic...	OMIM:620330
Meckel Syndrome, Type 2	Microphthalmia, Omphalocele	OMIM:603194
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Neuroocular Syndrome	Retrognathia, Microphthalmia, Brittle hair, Highly arched eyebrow, Small nail, Genu recurvatum, S...	OMIM:619539
Helsmoortel-Van Der Aa Syndrome	Short nose, High anterior hairline, Genu valgum, Advanced eruption of teeth, Anteverted nares, Fa...	OMIM:615873
Peroxisome Biogenesis Disorder 4B	Short nose, Macrocephaly, Hypertelorism	OMIM:614863
Noonan Syndrome 3	Short nose, Anteverted nares, Left unilambdoid synostosis, Hypoplastic nasal bridge, Hyperteloris...	OMIM:609942
Oculo-Palato-Cerebral Syndrome	Joint hypermobility, Microphthalmia, Aplasia/Hypoplasia of the nails, Microcephaly	ORPHA:2714
Molybdenum Cofactor Deficiency, Complementation Group B	Microcephaly, Short nose, Macrocephaly, Hypertelorism	OMIM:252160
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Microphthalmia, Underdeveloped nasal alae, Elbow flexion contracture, ...	OMIM:268300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Hyperextensible hand joints, Broad lateral eyebrow, Optic nerve hypoplasia, Relative ...	ORPHA:500150
Van Esch-O'Driscoll Syndrome	Retrognathia, Short nose, Spina bifida occulta, Microcephaly, Depressed nasal bridge	OMIM:301030
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Short nose, Macrocephaly, Omphalocele, Joint stiffness, Aplasia of the na...	OMIM:618820
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Molybdenum Cofactor Deficiency, Complementation Group A	Microcephaly, Short nose, Macrocephaly, Hypertelorism	OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Buphthalmos, Microphthalmia, Congenital contracture	OMIM:613150
Aspartylglucosaminuria	Short nose, Abnormal cortical bone morphology, Inguinal hernia, Arthritis, Mandibular prognathia,...	ORPHA:93
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Microphthalmia, Pathologic fracture, Osteoporosis, Microcephaly, Joint hypermobility,...	OMIM:259770
Neu-Laxova Syndrome 1	Microphthalmia, Wide nose, Pterygium, Absent eyelashes, Proptosis, Camptodactyly, Depressed nasal...	OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Iic	Anteverted nares, Mandibular prognathia, Camptodactyly, Hypoplasia of the maxilla, Broad columell...	OMIM:617402
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Scarring, Short columella, Joint dislocation, Delayed cranial suture closure, Atrophi...	OMIM:601776
Cat Eye Syndrome	Micrognathia, Microphthalmia, Hypertelorism, Umbilical hernia	OMIM:115470
Deeah Syndrome	Short nose, Retrognathia, Prominent nasal tip, Decreased body weight, Low posterior hairline, C1-...	OMIM:619004
Syndromic Diarrhea	Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge...	ORPHA:84064
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Joint contracture of the hand, Genu valgum, Microphthalmia, Pathologic f...	OMIM:309000
Oculoauricular Syndrome	Short mandibular rami, Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular...	OMIM:612109
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Relative macrocephaly, Hypopigmentation of the skin, Proptosis, ...	OMIM:601803
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Jacobsen Syndrome	Short nose, Macrocephaly, Inguinal hernia, Anteverted nares, Broad columella, Aplasia/Hypoplasia ...	ORPHA:2308
Holoprosencephaly 2	Microphthalmia, Cyclopia, Hypotelorism, Proboscis, Proptosis, Microcephaly, Aplasia of the nasal ...	OMIM:157170
Axenfeld-Rieger Syndrome, Type 1	Aniridia, Hypoplasia of the iris, Hypoplasia of the maxilla, Rieger anomaly, Wide nasal bridge	OMIM:180500
Craniofacial Microsomia 1	Microphthalmia, Genu valgum, Anophthalmia, Maxillozygomatic hypoplasia, Hypoplasia of the maxilla...	OMIM:164210
Geleophysic Dysplasia 1	Osteopenia, Short nose, Small nail, Anteverted nares, Wrist flexion contracture, Joint stiffness,...	OMIM:231050
Koolen-De Vries Syndrome	Abnormality of hair texture, Wide nasal bridge, Hypopigmentation of hair	ORPHA:96169
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Osteoporosis, Joint hypermobil...	ORPHA:90354
Pallister-Hall Syndrome	Nail dysplasia, Large for gestational age, Short nose, Macrocephaly, Microphthalmia, Inguinal her...	ORPHA:672
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
8Q24.3 Microdeletion Syndrome	Secondary microcephaly, Bilateral microphthalmos, Mesiodens, Spina bifida occulta, Inguinal herni...	ORPHA:508488
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Microphthalmia	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Microcephaly, Micrognathia, Hypoplasia of the retina, Malar flattening, Short nas...	OMIM:253280
Myhre Syndrome	Joint stiffness, Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla	ORPHA:2588
Holoprosencephaly 1	Microphthalmia, Cyclopia, Hypotelorism, Proboscis, Microcephaly, Aplasia of the nose	OMIM:236100
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip, Horizontal eyebrow, Abnormal location of the eyebrow, Joint hype...	ORPHA:522077
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Joint stiffness, Dental malocclusion, Microphthalmia	OMIM:608940
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me...	OMIM:214500
Fraser Syndrome 2	Microphthalmia, Wide nose, Hypoplasia of the thymus, Low anterior hairline, Underdeveloped nasal ...	OMIM:617666
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Williams-Beuren Syndrome	Premature graying of hair, Osteopenia, Short nose, Medial flaring of the eyebrow, Hypotelorism, I...	OMIM:194050
Meckel Syndrome, Type 1	Microphthalmia, Hypotelorism, Omphalocele, Microcephaly, Camptodactyly of finger, Micrognathia, N...	OMIM:249000
Geleophysic Dysplasia 2	Joint stiffness, Short nose, Hypertelorism, Limitation of joint mobility	OMIM:614185
Singleton-Merten Syndrome 1	Osteopenia, High anterior hairline, Genu valgum, Osteolytic defects of the phalanges of the hand,...	OMIM:182250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Abnormal B cell morphology, ...	OMIM:618223
Treacher Collins Syndrome 1	Bilateral microphthalmos, Preauricular hair displacement, Choanal atresia, Micrognathia, Sparse l...	OMIM:154500
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Microphthalmia, Single naris, Choanal atresia, Micrognathia	OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Flexion contracture	OMIM:253800
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentation of the skin, La...	ORPHA:167
Williams Syndrome	Joint stiffness, Microcephaly, Umbilical hernia, Joint hypermobility, Patellar dislocation, Ingui...	ORPHA:904
Acro-Renal-Ocular Syndrome	Microphthalmia, Radial club hand, Optic disc hypoplasia, Hypertelorism, Vertebral fusion	ORPHA:959
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypoplasia of the iris,...	OMIM:609049
Phocomelia, Schinzel Type	Nail dysplasia, Short nose, Micrognathia, Humeroradial synostosis	ORPHA:2879
Acromesomelic Dysplasia 1	Joint hypermobility, Short nose, Short nail, Limited elbow extension	OMIM:602875
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Camptodactyly, Microcephaly, Agenesis of maxillary lateral incisor,...	OMIM:309800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Short nose, Anteverted nares, Microcephaly, Carious teeth, Hypertelorism, Broad nasal ...	OMIM:619522
Norrie Disease	Microphthalmia, Hypotelorism, Aplasia/Hypoplasia of the lens, Narrow nasal bridge, Cachexia, Hypo...	ORPHA:649
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me...	ORPHA:79430
Mowat-Wilson Syndrome	Microphthalmia, Broad eyebrow, Delayed eruption of teeth, Low hanging columella, Prominent nasal ...	OMIM:235730
Linear Skin Defects With Multiple Congenital Anomalies 1	Microcephaly, Microphthalmia, Congenital diaphragmatic hernia, Pigmentary retinopathy	OMIM:309801
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Short nose, Macrocephaly, Inguinal hernia, Anteverted nares, Man...	OMIM:312870
Peters-Plus Syndrome	Limited elbow movement, Macrocephaly, Conical incisor, Wide anterior fontanel, Microcephaly, Hypo...	OMIM:261540
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Floating-Harbor Syndrome	Long nose, Narrow nasal bridge, Dislocated radial head, Low hanging columella, Persistence of pri...	ORPHA:2044
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Microcephaly, Lens coloboma	ORPHA:42775
Vici Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc...	OMIM:242840
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:85167
Papillorenal Syndrome	Joint hypermobility, Microphthalmia	OMIM:120330
Peters Plus Syndrome	Short nose, Spina bifida occulta, Inguinal hernia, Anteverted nares, Microcephaly, Micrognathia, ...	ORPHA:709
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Microcephaly, Micrognathia, Joint hypermobility, Convex nasal ridge, Bulbous nose, ...	OMIM:614437
Steinfeld Syndrome	Microphthalmia, Aplasia of the nose	OMIM:184705
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Secondary microcephaly, Microphthalmia, Genu valgum, Right unicoronal synostosis, Broad eyebrow, ...	ORPHA:261537
Adams-Oliver Syndrome 1	Microphthalmia, Small nail, Microcephaly, Supernumerary nipple, Alopecia	OMIM:100300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Histiocytoid Cardiomyopathy	Failure to thrive, Microphthalmia, Congenital aphakia	ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Secondary microcephaly, Microphthalmia, Genu valgum, Broad eyebrow, Right unicoronal synostosis, ...	ORPHA:261552
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98754
Femoral-Facial Syndrome	Limited elbow movement, Short nose, Inguinal hernia, Hypoplastic acetabulae, Humeroradial synosto...	OMIM:134780
Hydrolethalus Syndrome 1	Midline defect of the nose, Microphthalmia, Omphalocele, Micrognathia, Bifid nose	OMIM:236680
Mowat-Wilson Syndrome	Microphthalmia, Genu valgum, Broad eyebrow, Delayed eruption of teeth, Low hanging columella, Man...	ORPHA:2152
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177901
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec...	OMIM:219800
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Wide nasal ...	ORPHA:818
Spondyloepimetaphyseal Dysplasia, X-Linked	Limited elbow extension, Delayed ossification of carpal bones, Flat acetabular roof, Hypoplasia o...	OMIM:300106
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hemolytic anemia, Hypoplasia of the iris	OMIM:175780
Townes-Brocks Syndrome	Failure to thrive, Microphthalmia	ORPHA:857

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pfas

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pfas.

No publications found that use IMPC mice or data for Pfas.

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MGI Allele	Allele Type	Produced
Pfas^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pfas^em1(IMPC)J	Exon Deletion	Mice
Pfas^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pfas MGI:2684864

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Pfas mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data