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Gene: Pah MGI:97473

Gene Summary

Name:

phenylalanine hydroxylase

Synonyms:

N/A

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
microphthalmia	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal cornea morphology	Pah^em1(IMPC)Tcp	HOM	Early adult	1.93×10^-05
abnormal coat/hair pigmentation	Pah^em1(IMPC)Tcp	HOM	Early adult	3.88×10^-06
female infertility	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Pah^em1(IMPC)Tcp	HET	Early adult	6.07×10^-06
abnormal sternum morphology	Pah^em1(IMPC)Tcp	HET	Early adult	0.00
small adrenal glands	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
small spleen	Pah^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal sternum morphology	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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Eye Morphology

Images Slit Lamp

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Histopathology

Images

3 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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Human diseases caused by Pah 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 Pah (3 diseases)
Human diseases predicted to be associated with Pah (1024 diseases)

The table below shows human diseases associated to Pah by orthology or direct annotation.

Disease	Matching phenotypes	Source
Classic Phenylketonuria	Hypopigmentation of hair, Cerebral calcification, Microcephaly, Growth delay, Attention deficit h...	ORPHA:79254
Phenylketonuria	Cerebral calcification, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic...	OMIM:261600
Maternal Phenylketonuria	Microcephaly, Abnormal renal morphology, Hypoplasia of the corpus callosum, Intrauterine growth r...	ORPHA:2209

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Gemignani Syndrome	Hypoplasia of penis, Ataxia, Short stature, Impaired pain sensation, Hypopigmented skin patches, ...	ORPHA:2074
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Microcephaly, Hypopigmented skin patches, Melanocytic nevus, Irregular hyperpigmen...	ORPHA:2435
Dyschromatosis Universalis Hereditaria	Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip...	ORPHA:241
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Growth delay, Athetosis, Hypopigmentation of the skin, Dandy-Walker malformation	OMIM:257800
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Lissencephaly 8	Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Hypoplasia of the cor...	OMIM:617255
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Subco...	ORPHA:33445
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Gait disturbance, Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai...	OMIM:607624
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Highly arched eyebrow, Microcephaly, Synophrys, Simplified gyral pattern, Cerebral atro...	OMIM:619286
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Lateral ventricle dilatation...	ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Microcephaly, Decreased LDL cholesterol concentration, D...	OMIM:616834
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism	OMIM:606574
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt...	ORPHA:411515
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral white matter atrophy, Microcephaly, Corpus callosum atrophy, CNS hypomyelination, Cerebr...	ORPHA:369939
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim...	ORPHA:3453
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,...	ORPHA:189
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystrophy, Hyperin...	ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination, Developmental cataract	ORPHA:85163
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Short stature, Hypospadias, Nephrolithiasis, Decreased fertility, Delayed pu...	ORPHA:1816
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus c...	OMIM:300067
Microcephaly-Albinism-Digital Anomalies Syndrome	Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
4H Leukodystrophy	Cataract, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to...	ORPHA:289494
Leukodystrophy, Hypomyelinating, 11	Failure to thrive, Hypoplasia of the corpus callosum, Leukodystrophy, CNS hypomyelination	OMIM:616494
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, Hypogonadism	ORPHA:2528
Warburg Micro Syndrome 1	Delayed CNS myelination, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Developmenta...	OMIM:600118
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ce...	OMIM:614482
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Leukodystrophy, Hypomyelinating, 10	Reduced cerebral white matter volume, Prominent eyelashes, Cerebral atrophy, CNS hypomyelination,...	OMIM:616420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iri...	OMIM:610023
Classic Phenylketonuria	Hypopigmentation of hair, Cerebral calcification, Microcephaly, Growth delay, Attention deficit h...	ORPHA:79254
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Leukoencephalopathy With Vanishing White Matter 1	Decreased circulating progesterone, Cessation of head growth, Cerebral hypomyelination, Leukoence...	OMIM:603896
Hereditary Methemoglobinemia	Small for gestational age, Microcephaly, Delayed myelination, Temporal cortical atrophy, Cerebral...	ORPHA:621
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Synoph...	OMIM:620317
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Fine hair, Abnormal cerebr...	ORPHA:500166
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Cataract, Small for gestational age, Hirsutism	ORPHA:85288
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Developmental And Epileptic Encephalopathy 5	Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypopl...	OMIM:613477
Phenylketonuria	Cerebral calcification, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic...	OMIM:261600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Abnormal hair whorl, Delayed myelination, Simplified gyral pattern, Ce...	OMIM:614261
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Microcephaly, Postnatal gro...	ORPHA:391417
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Delayed CNS myelination, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Fa...	OMIM:616577
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio...	OMIM:618156
Potocki-Lupski Syndrome	Small for gestational age, Microcephaly, Delayed myelination, Hypoplasia of the corpus callosum, ...	OMIM:610883
Developmental And Epileptic Encephalopathy 79	CNS hypomyelination, Frontotemporal cerebral atrophy, Secondary microcephaly, Hypoplasia of the c...	OMIM:618559
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Developmental And Epileptic Encephalopathy 86	Microcephaly, Small for gestational age, CNS hypomyelination	OMIM:618910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Delayed CNS myelination, Cataract, Synophrys, Leukoencephalopathy, Cerebral atrophy, CNS hypomyel...	OMIM:619260
Leukodystrophy, Hypomyelinating, 15	Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodyst...	OMIM:617951
Griscelli Syndrome Type 1	Cerebral calcification, Ataxia, Partial albinism, White hair, Premature graying of hair, Iris hyp...	ORPHA:79476
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly	OMIM:618010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism	ORPHA:2786
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Postaxial polydactyly	OMIM:613094
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebral hypomyelination, Failure to thrive, Cerebral atrophy, Microcephaly	OMIM:300475
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Delayed CNS myelination, Cataract, Microcephaly, Retinal pigment epitheli...	OMIM:614105
Leukodystrophy, Hypomyelinating, 5	Cerebral white matter atrophy, Developmental cataract, CNS hypomyelination, Leukodystrophy, Onion...	OMIM:610532
Developmental And Epileptic Encephalopathy 93	Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Iris colo...	OMIM:618012
Giant Axonal Neuropathy	Woolly hair, Abnormal pituitary gland morphology, CNS hypomyelination, Pili canaliculi	ORPHA:643
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Infantile spasms	OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive, Abnormal fingernail morphology, Cataract	ORPHA:2278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Spasticity, Childhood-Onset, With Hyperglycinemia	Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy	OMIM:616859
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ...	ORPHA:79414
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, CNS hypomyelination, Hypomagnesemia, Hypothyroidism, Thin corpus callosum	OMIM:619908
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio...	OMIM:619165
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Hypoglycinemia, Abnormal cortical gyration, Abnormality of hair te...	ORPHA:79351
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, CNS hypomyelination, Cerebral cortical atrophy, Hypoplasia of the ...	OMIM:607694
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Diabetes mellitus, Highly arched eyebrow, Microcephaly, Low anterior hairline, Simplified gyral p...	OMIM:618622
Mucolipidosis Iv	Corneal opacity, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastrine...	OMIM:252650
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Microcephaly, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the ...	OMIM:615760
Adams-Oliver Syndrome 4	Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phal...	OMIM:615297
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation...	OMIM:214400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin, Short stature	OMIM:610798
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati...	ORPHA:79397
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Severe demyelination of the white matter, CNS hypomyelination, Progressive microcephaly, Hypoplas...	ORPHA:481152
Kaya-Barakat-Masson Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy, CNS hypomyelination	OMIM:619125
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypogonadotropic hypogonadism, Abnormal basal ganglia morphology, CNS hypomyelination, Cerebral c...	ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism, CNS hypomyelination	ORPHA:88637
Al-Raqad Syndrome	Inability to walk, Microcephaly, Hypopigmentation of the skin, Gait ataxia	OMIM:616459
Leukodystrophy, Hypomyelinating, 22	Astigmatism, CNS hypomyelination	OMIM:619328
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Thin corpus callosum, CNS hypomyelination	OMIM:619688
Multiple Mitochondrial Dysfunctions Syndrome 5	Elevated circulating creatine kinase concentration, Microcephaly, Delayed myelination, Pigmentary...	OMIM:617613
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Developmental cataract, Hypocholesterol...	OMIM:618810
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia, CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia o...	OMIM:610015
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Diffuse white matter abnormalities, Secondary microcephaly, Leukodystrophy, Microcephaly	OMIM:616763
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism	ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebr...	OMIM:616171
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid...	ORPHA:139471
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Lissencephaly, Polymicrogyria, CNS hypomyelination	OMIM:614883
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Low anterior hairl...	OMIM:613153
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Phakomatosis Pigmentovascularis	Cerebral calcification, Generalized hyperpigmentation, Hypopigmented skin patches, Paresthesia, C...	ORPHA:2875
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum, CNS hypomyelin...	OMIM:619423
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:89838
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri...	OMIM:601706
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Hypopigmentation of the s...	ORPHA:177910
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Multiple Mitochondrial Dysfunctions Syndrome 4	Abnormal periventricular white matter morphology, Leukodystrophy	OMIM:616370
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Hypopigmentation of the skin	OMIM:617294
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Seizure	OMIM:274270
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Ddost-Cdg	Failure to thrive, Primary hypothyroidism, CNS hypomyelination	ORPHA:300536
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Microphthalmia, Seizure, Abnormality of retinal pigmentation	OMIM:251270
Pelizaeus-Merzbacher Disease	Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, CNS hypomyelination, Abnormal...	OMIM:312080
Null Syndrome	Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination	ORPHA:280234
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growth, Mild microcephaly, ...	ORPHA:411511
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Focal-onset seizure, Focal motor seizure, Erratic myoclonus, Gen...	OMIM:308350
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystr...	OMIM:614381
Oculocerebrocutaneous Syndrome	Microphthalmia, Alopecia, Anophthalmia, Seizure	OMIM:164180
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Microcephaly, Thin corpus callosum, CNS hypomyelination	OMIM:620023
Maternal Uniparental Disomy Of Chromosome X	Short stature, Microcephaly, Azoospermia, Agenesis of corpus callosum, Hypopigmentation of the skin	ORPHA:261519
Developmental And Epileptic Encephalopathy 75	CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Frontal cortical ...	OMIM:618437
Cofs Syndrome	Abnormality of retinal pigmentation, Cerebral calcification, Cataract, Microcephaly, Hypogonadism...	ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 24	Elevated circulating creatine kinase concentration, Microcephaly, CNS hypomyelination, Hypoplasia...	OMIM:616239
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o...	OMIM:604213
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Decreased...	OMIM:234050
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Hypoplasia of the corpus callosum, Leukoencephalopathy, CNS hypomyelination	OMIM:615281
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Basal ganglia calcification, Paresthesia	OMIM:615361
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Microcephaly, CNS hypomyelination, Astigmatism, Leukodystrophy, Pachygyria, Cerebral cortical atr...	OMIM:619576
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Delayed myelination, Cerebral white matter atrophy	ORPHA:599373
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt...	ORPHA:98794
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Pelizaeus-Merzbacher Disease, Transitional Form	CNS hypomyelination	ORPHA:280224
Neuropathy, Congenital Hypomyelinating, 3	Microcephaly, Hypoplasia of the corpus callosum, Cachexia, CNS hypomyelination	OMIM:618186
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Developmental And Epileptic Encephalopathy 78	Microcephaly, CNS hypomyelination	OMIM:618557
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen...	OMIM:617442
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Leukodystrophy, CNS hypomyelination	OMIM:617560
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:618276
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Long eyelashes, Mi...	ORPHA:48431
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, CNS hypomyelination, Pigmentary retinopathy, Hypoplasia of the corpus cal...	OMIM:614230
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Cerebral white ...	ORPHA:3008
Spastic Paraplegia 44, Autosomal Recessive	Hypoplasia of the corpus callosum, CNS hypomyelination	OMIM:613206
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad...	ORPHA:90793
Waardenburg Syndrome, Type 4A	White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero...	ORPHA:2885
Orofaciodigital Syndrome Xvii	CNS hypomyelination, Decreased body weight	OMIM:617926
Leukoencephalopathy, Brain Calcifications, And Cysts	Cerebral calcification, Leukoencephalopathy, Leukodystrophy	OMIM:614561
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin	ORPHA:71526
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C...	OMIM:615771
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Corneal opacity, Hypermelanotic macule, Cataract, Microcephaly, Abno...	ORPHA:317
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Cataract, Small for gestational age, Microcephaly, Basal ganglia calcif...	OMIM:214150
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Abnormal rib morphology, Iris coloboma	ORPHA:195
Adenylosuccinase Deficiency	Microcephaly, Cerebral atrophy, CNS hypomyelination, Inappropriate laughter, Cerebral hypomyelina...	OMIM:103050
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Cerebral hypomyelination, Delayed myelination	ORPHA:79097
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Rocker bottom foot	OMIM:616570
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Split foot, Cryptorchidism	OMIM:601349
Pierpont Syndrome	Cryptorchidism, Short toe, Microcornea, Short finger, Prominent fingertip pads, Microphthalmia, H...	ORPHA:487825
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Microphthalmia-Brain Atrophy Syndrome	Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Bilateral microphthal...	ORPHA:77299
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, CNS hypomyelination	OMIM:616158
Slc35A2-Cdg	Cerebral white matter atrophy, Short stature, Microcephaly, Inability to walk, Cortical dysplasia...	ORPHA:356961
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Microcephaly, Simplified gyral pattern, CNS hypomyelination, Hypoplasia of the corpus callosum, P...	OMIM:615966
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F...	ORPHA:1942
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Cessation of head growth, Secondary microcephaly, Gai...	ORPHA:98795
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Hypointensity of cerebral white matter on MRI, Leukodystrophy	OMIM:619196
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Spars...	OMIM:617193
Hartnup Disease	Abnormal urinary color, Ataxia, Short stature, Hypopigmented skin patches, Irregular hyperpigment...	ORPHA:2116
Leukodystrophy, Hypomyelinating, 2	Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy, Cerebral atrophy	OMIM:608804
Pierpont Syndrome	Cryptorchidism, Short toe, Microcornea, Short foot, Short finger, Short palm, Prominent fingertip...	OMIM:602342
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia	OMIM:268320
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Astigmatism, Camptodactyly, Microphthalmia, Sparse lateral eyebrow	OMIM:619694
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Cryptorchidism, Blue irides, Short metatarsal, Advanced ossi...	OMIM:614613
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule	ORPHA:69125
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, Microcephaly, Hypothyroidism, Cerebral atr...	OMIM:618922
Triokinase And Fmn Cyclase Deficiency Syndrome	Delayed CNS myelination, Cataract, Failure to thrive in infancy, Hypoalbuminemia, Microphthalmia	OMIM:618805
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Cataract, Proximal placement of thumb, Abnormal rib morphology, Abnorma...	ORPHA:93267
Methionine Malabsorption Syndrome	Seizure, White hair, Blue irides	OMIM:250900
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Intrauterine growth retardation, Hypopigmentation of the skin, Microcephaly	ORPHA:261304
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Short stature, Growth delay, Reduced renal corticomedullary differentia...	OMIM:618541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Microcephaly, Developmental cataract, Hypopla...	OMIM:613155
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Secondary microcephaly, Primary microcephaly, Cerebral hypomyelination, Frontal hirsutism, Genera...	OMIM:612949
Galactokinase Deficiency	Cataract, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Hyperinsulinem...	ORPHA:79237
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Seizure	ORPHA:261272
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Piebaldism	Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Microcephaly, Piebaldism, Hypop...	ORPHA:2884
Developmental And Epileptic Encephalopathy 29	Microcephaly, Failure to thrive, Cerebral atrophy, CNS hypomyelination	OMIM:616339
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Cataract	OMIM:611040
Leukodystrophy, Hypomyelinating, 6	Cerebral hypomyelination, Leukodystrophy, Microcephaly	OMIM:612438
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Fair hair, Hypopigmentation of the skin, Cerebral atrophy	OMIM:269920
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h...	OMIM:615830
Developmental And Epileptic Encephalopathy 4	Cerebral hypomyelination, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral at...	OMIM:612164
2,4-Dienoyl-Coa Reductase Deficiency	Delayed CNS myelination, Microcephaly, Cerebral atrophy, Colpocephaly, Hyperlysinuria, Leukodystr...	OMIM:616034
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop...	ORPHA:1553
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Delayed CNS myelination, Microcephaly, Paroxysmal bursts of laughter, CNS hypomyelination, Thin c...	OMIM:619580
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots	OMIM:614082
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt...	OMIM:619339
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Hypogonadism, Cryptorchidism	OMIM:601794
Hawkinsinuria	Sparse hair, Microcephaly, Failure to thrive, Hypertyrosinemia	OMIM:140350
Combined Oxidative Phosphorylation Deficiency 11	Delayed myelination, CNS hypomyelination, Hypoplasia of the corpus callosum, Pachygyria, Cerebral...	OMIM:614922
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Microcephaly, Sacral hypertrichosis, High nonceruloplasmin-bound serum cop...	ORPHA:457351
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol...	OMIM:266510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Diffuse cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hyperintensity of cere...	ORPHA:438114
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea	OMIM:202110
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Cryptorchidism, Cerebral atrophy, Choreoathetosis, Hypoplasia of ...	OMIM:614969
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Hypogonadism, Cryptorchidism	ORPHA:363741
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Sparse hair, Micro...	OMIM:610756
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Microcephaly, Delayed myelination, Nail dystrophy, Hypoplasia of the corpu...	OMIM:300887
Vogt-Koyanagi-Harada Disease	Short stature, Poliosis, Hypopigmented skin patches, Premature graying of hair, Cognitive impairm...	ORPHA:3437
Piebald Trait With Neurologic Defects	Absent pigmentation of the ventral chest, White forelock, Ataxia	OMIM:172850
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Pelizaeus-Merzbacher Disease In Female Carriers	Hyperintensity of cerebral white matter on MRI, Abnormal corpus callosum morphology, CNS hypomyel...	ORPHA:280229
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Sandestig-Stefanova Syndrome	Delayed CNS myelination, Laterally extended eyebrow, Small for gestational age, Highly arched eye...	OMIM:618804
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Short stature, Hypopigmented skin patches, Abnormal localization of kidney, Delayed puberty	ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Leukoenceph...	OMIM:615181
Autosomal Recessive Spastic Paraplegia Type 44	CNS hypomyelination	ORPHA:320401
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T...	ORPHA:290
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Cerebral atrop...	ORPHA:309246
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly	OMIM:602361
Alg3-Cdg	Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Subcortical cerebral atrophy...	ORPHA:79321
Congenital Toxoplasmosis	Microphthalmia, Seizure, Abnormality of retinal pigmentation	ORPHA:858
Temtamy Syndrome	Brachydactyly, Short toe, Clinodactyly of the 5th finger, Microphthalmia, Iris coloboma, Genu varum	ORPHA:1777
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2251
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyseal widening, Abnorma...	ORPHA:2788
Vici Syndrome	Abnormality of retinal pigmentation, Short stature, Hypoplasia of the pons, Ureteral atresia, Ren...	ORPHA:1493
Microcephaly 10, Primary, Autosomal Recessive	Delayed CNS myelination, Cataract, Small for gestational age, Reduced cerebral white matter volum...	OMIM:615095
Angelman Syndrome	Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Secondary microcephaly, Fair hair...	OMIM:105830
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Pachygyria, Delayed myelination, Low ...	ORPHA:79324
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Short stature, Proteinuria, Microcephal...	OMIM:251300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Leukodystrophy, Hypomyelinating, 17	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Hirsutism	OMIM:618006
Leukodystrophy, Hypomyelinating, 24	Cataract, Microcephaly, Cerebral atrophy, Leukodystrophy, Hypothyroidism, Thin corpus callosum	OMIM:619851
Waardenburg Syndrome, Type 3	Partial albinism, Microcephaly, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:148820
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester...	ORPHA:96180
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Cataract, Microcephaly, Fine hair, Microc...	OMIM:601675
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Abnormal myelination, Cereb...	ORPHA:280210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Kaufman Oculocerebrofacial Syndrome	Microcephaly, Sparse eyebrow, Microcornea, Astigmatism, Hypoplasia of the corpus callosum, Hypoch...	OMIM:244450
Cystinosis, Nephropathic	Cerebral calcification, Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndro...	OMIM:219800
Lissencephaly Due To Tuba1A Mutation	Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,...	ORPHA:171680
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ne...	ORPHA:35173
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Trichothiodystrophy 3, Photosensitive	Delayed CNS myelination, Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger ta...	OMIM:616395
Frontonasal Dysplasia 1	Cataract, Postaxial hand polydactyly, Widow's peak, Radial deviation of finger, Camptodactyly, Mi...	OMIM:136760
Juvenile Amyotrophic Lateral Sclerosis	Microcephaly, Cachexia, CNS hypomyelination	ORPHA:300605
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis...	ORPHA:999
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Elevated circulating creatine kinase concentration, Sparse eyebrow, Secondary microcephaly, Hypop...	ORPHA:496641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Abnormally large glob...	OMIM:615249
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Leukodystrophy, Childhood-Onset, Remitting	Abnormal cerebral white matter morphology, Leukodystrophy	OMIM:619864
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Seizure	OMIM:613730
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Abnormal pelvic girdle bone...	OMIM:157900
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Leukodystrophy, Hypomyelinating, 12	Microcephaly, Delayed myelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Cer...	OMIM:616683
Retinal Dystrophy With Leukodystrophy	Progressive microcephaly, CNS hypomyelination	OMIM:618863
Porphyria Variegata	Somatic sensory dysfunction, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased...	ORPHA:79473
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Combined Saposin Deficiency	CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal...	OMIM:611721
Insulin-Like Growth Factor I Deficiency	Short attention span, Decreased serum insulin-like growth factor 1, Short stature, Elevated circu...	OMIM:608747
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Microcephaly, Leukoencephalopathy, Abnormal CNS myelination, Focal white ...	OMIM:612951
Adams-Oliver Syndrome 2	Alopecia, Microcephaly, Low anterior hairline, Cerebral atrophy, Developmental cataract, Lateral ...	OMIM:614219
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Baraitser-Winter Syndrome 2	Microphthalmia, Seizure, Highly arched eyebrow	OMIM:614583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Cerebral atrophy, CNS...	OMIM:615356
Menkes Disease	Intrauterine growth retardation, Short stature, Hypopigmentation of the skin, Microcephaly	OMIM:309400
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Toe syndactyly, Sandal gap, Abnormal eyelash morphology,...	OMIM:206920
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Warburg Micro Syndrome 3	Cataract, Microcephaly, Low anterior hairline, Developmental cataract, Microcornea, Shallow anter...	OMIM:614222
Peroxisome Biogenesis Disorder 8B	Cataract, Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Abnormal cer...	OMIM:614877
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Short stature, Proteinu...	ORPHA:2715
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body w...	OMIM:614833
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, Dysplast...	OMIM:619955
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Leukodys...	ORPHA:3455
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Cerebral atrophy, Hyperglycinemia, Leukodystrophy, Hypoplasia of the corpus callosu...	OMIM:615330
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Abnormality of skin pigmentation, Microphthalmia, Failure to thrive, Polymicrogyria, Hy...	OMIM:612379
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe...	ORPHA:352731
Bresek Syndrome	Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polyd...	ORPHA:85284
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Aplasia/Hypoplasia of the corpus callosum, Abnormal cornea morpholog...	ORPHA:2611
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microcephal...	ORPHA:370959
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:615524
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea	OMIM:607765
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Hypoplasia of the corpus callosum, Increased circulating very long-chain fatty ...	OMIM:617916
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Tyrosinemia, Type Ii	Hypertyrosinemia, Herpetiform corneal ulceration	OMIM:276600
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Fucosidosis	Cerebral atrophy, Tortuosity of conjunctival vessels, CNS hypomyelination, Failure to thrive, Thi...	OMIM:230000
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Ataxia, Short stature, White hair, Ocular albinism, Aplasia/Hyp...	ORPHA:2720
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn...	OMIM:229200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Temtamy Syndrome	Highly arched eyebrow, Lens luxation, Ectopia lentis, Thick corpus callosum, Microphthalmia, Agen...	OMIM:218340
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopi...	OMIM:615877
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr...	OMIM:610125
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Obesity	OMIM:620195
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cataract, Small for gestational age, Decreased response to growth hormone stimulation test, Prema...	ORPHA:268261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cataract, Elevated circulating creatine kinase concentration, Buphthalmos...	OMIM:616538
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia, Cavu...	OMIM:617306
Megalocornea	Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d...	OMIM:309300
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly...	ORPHA:899
Oculofaciocardiodental Syndrome	Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contrac...	ORPHA:2712
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal hair morphology, Hyperornithinemia, Aminoaciduria, Subcapsular cataract	ORPHA:414
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al...	OMIM:203300
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo...	ORPHA:573
Incontinentia Pigmenti	Hypoplasia of the fovea, Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail p...	OMIM:308300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Seizure	OMIM:602501
Abetalipoproteinemia	Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ...	ORPHA:14
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Trisomy 13	Cataract, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, ...	ORPHA:3378
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ...	ORPHA:189427
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens...	ORPHA:98754
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r...	ORPHA:79432
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Hypopigmented skin patches	ORPHA:3239
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Op...	OMIM:609053
Nance-Horan Syndrome	Microcornea, Microphthalmia, Short metacarpal, Cataract	ORPHA:627
Chylomicron Retention Disease	Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypogonadotropic hypogonadism, Im...	OMIM:176270
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Highly arched eyebrow, Shallow anterior chamber, Small nail, Cerebral hypom...	ORPHA:247262
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Microcephaly, Myopic astigmatism, Simplified gyral pattern, Microcorne...	OMIM:152950
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Localized Epidermolysis Bullosa Simplex	Paresthesia, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Warburg Micro Syndrome 4	Perisylvian polymicrogyria, Low anterior hairline, Developmental cataract, Microcornea, Secondary...	OMIM:615663
Dpagt1-Cdg	Microcephaly, CNS hypomyelination, Developmental cataract, Astigmatism, Hypoplasia of the corpus ...	ORPHA:86309
Marbach-Rustad Progeroid Syndrome	Hyperintensity of cerebral white matter on MRI, Microcephaly, CNS hypomyelination	OMIM:619322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens...	ORPHA:98793
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, CNS hypomyelination	ORPHA:309155
Dubowitz Syndrome	Sparse scalp hair, Microcephaly, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Meg...	OMIM:223370
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Abnormal CNS myelination, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:477673
Galactosemia I	Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Aminoaciduria,...	OMIM:230400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens...	ORPHA:177904
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Limbal dermoid, Microcornea, Hypoplasia of the corpus callosum, Micro...	ORPHA:1791
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Lissencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:1528
Hereditary Bullous Dystrophy, Macular Type	Short stature, Microcephaly, Cryptorchidism, Spotty hypopigmentation, Growth delay, Decreased tes...	ORPHA:1867
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e...	OMIM:129500
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens...	ORPHA:177901
Oculoskeletodental Syndrome	Hypercalcemia, Dysplastic corpus callosum, Developmental cataract, Abnormality of the frontal hai...	ORPHA:557003
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microcorn...	ORPHA:3301
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Type ...	ORPHA:100
Angelman Syndrome	Broad-based gait, Ataxia, Cerebral dysmyelination, Microcephaly, Inability to walk, Delayed menar...	ORPHA:72
Gastrointestinal Defects And Immunodeficiency Syndrome 2	CNS hypomyelination, Leukodystrophy, Hyperintensity of cerebral white matter on MRI, Polymicrogyr...	OMIM:619708
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Hypoplasia of the corpus callo...	OMIM:618193
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Cryptorchidism, Low anterior hairline, Developmental cataract, Microco...	OMIM:614225
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Allan-Herndon-Dudley Syndrome	Delayed CNS myelination, Microcephaly, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:300523
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 finge...	OMIM:257850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Macrocephaly, Cerebral atrophy, Microcephaly	OMIM:300337
Martsolf Syndrome 1	Short metacarpal, Cataract, Hypogonadotropic hypogonadism, Metatarsus adductus, Cryptorchidism, S...	OMIM:212720
Baraitser-Winter Syndrome 1	Failure to thrive, Highly arched eyebrow, Microcephaly, Low posterior hairline, Lissencephaly, Mi...	OMIM:243310
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m...	ORPHA:2399
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Decrease...	ORPHA:739
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian car...	OMIM:617883
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Abnormal cerebral white matter morphology, Small for gestational age, Hypoplasia of the corpus ca...	OMIM:614501
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Obesity, Hypoplasia of the corpus callosum	ORPHA:521390
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Rocker bottom foot, Adducted thumb	ORPHA:89844
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Microcornea, Premature graying of hair, Short palm, Sparse hair, Abse...	OMIM:268400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize...	ORPHA:158681
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Short stature, Horseshoe kidney, Hemimegalencephaly, Growth delay, Hypopigment...	OMIM:163200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior...	OMIM:221900
Ruvalcaba Syndrome	Microcephaly, Cryptorchidism, Hypopigmented skin patches, Abnormal localization of kidney, Hematu...	ORPHA:3121
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Optic disc hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, CNS hypomyelina...	OMIM:619306
Bloom Syndrome	Microcephaly, Postnatal growth retardation, Cryptorchidism, Decreased fertility in females, Spott...	OMIM:210900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Delayed CNS myelination, Microcephaly, CNS hypomyelination, Lateral ventricle dilatation, Hypopla...	OMIM:618367
Rere-Related Neurodevelopmental Syndrome	CNS demyelination, Astigmatism, Hypoplasia of the corpus callosum, Peters anomaly, Microphthalmia...	ORPHA:494344
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, CNS demyelination, Leukodystrophy	OMIM:264470
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Aminoaciduria, Failure to thrive, Microcephaly	OMIM:604273
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Mi...	ORPHA:85194
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Iris hypopigmenta...	ORPHA:79477
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ...	ORPHA:2839
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentati...	ORPHA:90354
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu...	ORPHA:163966
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus cal...	ORPHA:2510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Mi...	OMIM:618727
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Sparse hair, Failure to thrive	OMIM:620001
Congenital Disorder Of Glycosylation, Type Ia	Hypergonadotropic hypogonadism, Microcephaly, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, ...	OMIM:212065
Even-Plus Syndrome	Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal...	OMIM:616854
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microcephaly, Basal ganglia calcification, Pigmentary retinopathy, Abnormal CNS myelina...	OMIM:610651
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism	OMIM:619318
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Corneal opacity, Thick hair, Dysplastic corpus callosum, Abnormal cornea m...	ORPHA:357058
Pseudohypoparathyroidism, Type Ic	Cataract, Basal ganglia calcification, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:612462
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri...	OMIM:619737
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Hypopigmented skin patch...	ORPHA:2115
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	CNS hypomyelination	OMIM:618527
2Q31.1 Microdeletion Syndrome	Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Cl...	ORPHA:251014
Cousin Syndrome	Hypoplastic scapulae, Dislocation of the femoral head, Hypoplastic ischia, 4-5 toe syndactyly, Hu...	OMIM:260660
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Megalencephaly, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Gait ...	ORPHA:457485
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cerebral calcification, Cataract, Decreased circulating parathyroid hormone l...	OMIM:146200
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Sclerocornea, Cortical dysplasia, Porencephalic cyst, Hypopla...	OMIM:613001
Incontinentia Pigmenti	Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, Finger sy...	ORPHA:464
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Primary ...	ORPHA:398069
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Cataract, Alopecia, Hypoplastic fingernail, Absent toe, Split h...	ORPHA:974
Cohen Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Arachnodactyly, Sandal gap, Thick hair, T...	ORPHA:193
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Coxa valga, Flat acetabular roof, Flattened epiphysis, Abnormal femoral neck/head morph...	ORPHA:163649
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ...	OMIM:302350
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Leukodystrophy	OMIM:613163
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Abnormality of the subungual region, Developmental cataract, Clubbing o...	ORPHA:335
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch...	OMIM:160980
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia	OMIM:167730
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Hypoplasia of the corp...	ORPHA:370997
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus cal...	OMIM:616900
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Slender long bone, Congenital adrenal hyperplasia, Increased serum testosterone...	ORPHA:96181
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Griscelli Syndrome	Ataxia, Short stature, Silver-gray hair, White hair, Hypopigmented skin patches, Premature grayin...	ORPHA:381
Pelizaeus-Merzbacher Disease, Classic Form	Cerebral hypomyelination, Confluent hyperintensity of cerebral white matter on MRI	ORPHA:280219
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity	ORPHA:3191
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcephaly, Microphthalmia, Cerebral atrophy, Microcornea, Hypoplasia of the corpus c...	OMIM:616449
Ring Chromosome 10 Syndrome	Microphthalmia, Seizure	ORPHA:1438
Hengel-Maroofian-Schols Syndrome	Microcephaly, Synophrys, Cerebral atrophy, Abnormal CNS myelination, Thin corpus callosum, Thick ...	OMIM:619641
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinopathy, Microphthalmia	OMIM:193220
Joubert Syndrome 37	Postaxial polydactyly, Cryptorchidism, Sparse hair, Microphthalmia, Decreased testicular size	OMIM:619185
Leukodystrophy, Hypomyelinating, 16	Delayed CNS myelination, Failure to thrive, Hypoplasia of the corpus callosum, Leukodystrophy	OMIM:617964
Focal Facial Dermal Dysplasia Type I	Spotty hyperpigmentation, Spotty hypopigmentation	ORPHA:79133
Mitochondrial Complex I Deficiency, Nuclear Type 15	CNS demyelination, Failure to thrive	OMIM:618237
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-choleste...	OMIM:302960
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht...	ORPHA:91495
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia	ORPHA:31150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Hypermethioninemia	OMIM:250850
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Leukodystrophy	OMIM:614932
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorc...	ORPHA:398079
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Cryptorchidi...	ORPHA:284160
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C...	ORPHA:53271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Methioninuria, Homocystinuria	OMIM:236200
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm...	ORPHA:79431
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Seizure	OMIM:618652
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Mosaic Trisomy 8	Decreased testicular size, Short stature, Cryptorchidism, Hypopigmented skin patches, Agenesis of...	ORPHA:96061
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Delayed CNS myelination, Cataract, Small for gestational age, Microcephaly, Hyperammonemia, Cereb...	OMIM:615471
Infantile Krabbe Disease	Psychomotor deterioration, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MR...	ORPHA:206436
Spinocerebellar Ataxia 23	CNS demyelination, Agenesis of corpus callosum	OMIM:610245
Leukodystrophy, Hypomyelinating, 3	Microcephaly, Corpus callosum atrophy, Sudanophilic leukodystrophy, Diffuse cerebral sclerosis, L...	OMIM:260600
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg...	OMIM:186500
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Microphthalmia	ORPHA:228390
Frontorhiny	Cataract, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Microphthalmia, Hypopituita...	ORPHA:391474
Xeroderma Pigmentosum	Decreased testicular size, Short stature, Ataxia, Hypermelanotic macule, Microcephaly, Cryptorchi...	ORPHA:910
Sandhoff Disease	CNS hypomyelination	OMIM:268800
Kapur-Toriello Syndrome	Failure to thrive, Dysplastic corpus callosum, Microphthalmia, Iris coloboma, Pachygyria, Polymic...	ORPHA:2328
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Simplified gyral pattern	OMIM:618328
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Hammertoe, Abnormal epiphysis mo...	ORPHA:773
Monosomy 18P	Alopecia, Low posterior hairline, Microphthalmia, Hypothyroidism, Brachydactyly	ORPHA:1598
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Cryptorchidism, Ulnar bowing, Shortening of all di...	OMIM:619135
Kapur-Toriello Syndrome	Cataract, Overlapping fingers, Camptodactyly of finger, Short thumb, Cryptorchidism, Low posterio...	OMIM:244300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Delayed CNS myelination, Brittle hair, Cataract, Cerebral atrophy, Aminoaciduri...	OMIM:124000
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Alg8-Cdg	Hyponatremia, Cataract, Small for gestational age, Leukoencephalopathy, Leukodystrophy, Hypoplasi...	ORPHA:79325
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Sclerocornea, Hyperpigmented streaks, Lateral ventricle dilatation, M...	OMIM:300952
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct proli...	OMIM:611561
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Few cafe-au-lait spots	OMIM:606744
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior...	OMIM:612109
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Seizure	OMIM:614526
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Mitochondrial Complex I Deficiency, Nuclear Type 5	Microcephaly, Leukoencephalopathy, Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Fa...	OMIM:618226
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly	OMIM:613885
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h...	ORPHA:2221
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased serum pyruvate, Hyperintensity of cerebral white matter on MRI, Leukodystrophy, Microce...	OMIM:619224
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop...	OMIM:206900
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short stature, Abnormality of the kidney, Hypogonadotropic hypogonadism...	ORPHA:177907
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Delayed CNS myelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Thi...	OMIM:620269
Aicardi-Goutieres Syndrome 5	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Deep whi...	OMIM:612952
Focal Dermal Hypoplasia	Finger syndactyly, Alopecia, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Ectopia le...	ORPHA:2092
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc...	OMIM:214500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Pachygyria,...	OMIM:614643
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral...	OMIM:607597
Canavan Disease	CNS demyelination, Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylas...	OMIM:271900
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin	OMIM:601957
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of h...	ORPHA:369891
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Camptodactyly of finger, Cryptorchidism, Microcornea, Abnormal shoul...	ORPHA:568
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmi...	ORPHA:251038
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Decreased ...	ORPHA:125
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Corpus callosum atrophy, CNS demyelination, Leukoencephalopathy, Abnormal cerebral white matter m...	OMIM:221820
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Small ha...	ORPHA:2108
Multiple Benign Circumferential Skin Creases On Limbs	Cryptorchidism, Microcornea, Microphthalmia, Irregular hyperpigmentation, Generalized hirsutism	ORPHA:2505
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Cerebral calcification, Cataract, Abnormal circulating calcium-phosphate regu...	ORPHA:2238
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus ...	OMIM:614924
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Microcephaly, Abnormal circulating carnitine concent...	ORPHA:431361
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, T...	OMIM:601812
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Peters anomaly, Bupht...	OMIM:613150
Leigh Syndrome	Pigmentary retinopathy, CNS demyelination, Focal substantia nigra T2 hyperintensity, Failure to t...	OMIM:256000
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormal hair pattern	ORPHA:2717
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Neuronal loss in the cerebral cortex, Leukodystrophy, Hyperalaninemia, ...	OMIM:266150
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Cataract, Optic disc hypoplasia, Broad hallux phalanx,...	ORPHA:959
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Short stature, Postnatal growth retardation, Cerebellar hy...	OMIM:616113
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Macroorchidism, C...	OMIM:618874
Cockayne Syndrome B	Dry hair, Small for gestational age, Abnormal peripheral myelination, Microcephaly, Abnormal hair...	OMIM:133540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Low anterior hairline, Seizure, Microphthalmia, Febrile seizure (within th...	ORPHA:404440
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigmentation of hair, Ataxi...	ORPHA:167
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint contrac...	OMIM:618914
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Optic nerve hypopl...	OMIM:236670
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne...	OMIM:601552
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal ganglia, Cataract, ...	ORPHA:506
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Sparse eyebrow, Synophrys, Seizure, Microphthalmia, High anterior hairline,...	OMIM:620098
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Trichothiodystrophy	Ridged nail, Brittle hair, Partial agenesis of the corpus callosum, Microcornea, Conjunctivitis, ...	ORPHA:33364
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Syndactyly,...	OMIM:263650
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Aicardi-Goutieres Syndrome 6	Cerebral calcification, Leukodystrophy, Microcephaly	OMIM:615010
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Failure to thrive, Microcephaly, Increased axial length of the globe, Pineal cyst, Hypoplasia of ...	ORPHA:513456
Sjogren-Larsson Syndrome	CNS demyelination, Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodactyly of finger,...	ORPHA:1692
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol...	OMIM:601707
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc...	OMIM:619534
Mend Syndrome	Cataract, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation, Abno...	ORPHA:401973
Stevenson-Carey Syndrome	Microphthalmia, Seizure	OMIM:611961
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, C...	ORPHA:2719
Mitochondrial Complex I Deficiency, Nuclear Type 21	Leukoencephalopathy, Leukodystrophy	OMIM:618242
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Focal Facial Dermal Dysplasia Type Iii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormality of the upper urinary tract	ORPHA:1807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Agyria, Cataract, Hypoplasia of the pyramidal tract, Elevated circulating creatine kinase concent...	OMIM:253800
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Tyrosinemia, Type Iii	Hypertyrosinemia	OMIM:276710
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk...	ORPHA:69087
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Cataract, Microcephaly, Precocious puberty, Partial agenesis of the cor...	OMIM:270400
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi...	OMIM:614077
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, Overlapping toe, Cryptorchidism, Hip dysplasia, Prominent fingertip pads, Mi...	OMIM:618494
Dowling-Degos Disease	Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Penile freckling, Hypermelanot...	ORPHA:79145
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly	OMIM:120200
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Overlapping fingers, Overlapping toe, Sparse eyebrow, Devia...	ORPHA:464738
Oculodentodigital Dysplasia	Dry hair, Cataract, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hair, Microco...	OMIM:164200
Cockayne Syndrome	Dry hair, Cerebral calcification, Basal ganglia calcification, Lentiglobus, Cerebral dysmyelinati...	ORPHA:191
Intellectual Disability And Myopathy Syndrome	Periventricular white matter hyperintensities, Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Seizure, Microphthalmia, Irregular hyperpigmentation	ORPHA:2612
Hermansky-Pudlak Syndrome	Renal insufficiency, Hypopigmentation of hair, Partial albinism, Menometrorrhagia, Ocular albinis...	ORPHA:79430
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Hyperpigmentation of th...	ORPHA:96253
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Cerebral atrophy, CNS demyelination, Hyperbilirubinemia, Decreased body weight, Ele...	OMIM:614886
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ...	ORPHA:1352
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis...	OMIM:610758
Vici Syndrome	Hypopigmentation of hair, Schizencephaly, Cerebellar vermis hypoplasia, Albinism, Postnatal growt...	OMIM:242840
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Porphyria Cutanea Tarda	Stage 5 chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Hypopigmentatio...	ORPHA:101330
Frontal Encephalocele	Cerebral calcification, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1931
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Bile duct proliferation, Polydactyly, Micro...	OMIM:603194
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Prominent eyelashes, Simplified gyra...	OMIM:619179
Acrofrontofacionasal Dysostosis	Short stature, Hypospadias, Brushfield spots, Hypopigmented skin patches, Cerebral cortical atrophy	ORPHA:1784
Metachromatic Leukodystrophy Due To Saposin B Deficiency	CNS demyelination, Abnormal periventricular white matter morphology, Peripheral demyelination	OMIM:249900
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Small nail, Micropht...	OMIM:201180
Krabbe Disease	CNS demyelination, Diffuse cerebral atrophy, Failure to thrive, Peripheral demyelination	OMIM:245200
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Leukodystrophy	OMIM:618225
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Cataract, Female hypogonadism, Decreased circulating parathyroid ho...	OMIM:240300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Delayed peripheral myelination, Microcephaly, Synophrys, Cafe-au-lait spot, Thin...	ORPHA:364577
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Brittle hair, Os...	OMIM:305600
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Overlapping toe, Astigmatism, Horizontal eyebrow, Microphthalmia	OMIM:618571
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Aminoaciduria, Lentiglobus, Hypona...	ORPHA:534
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Short tibia, Squared iliac bones, Preaxial...	OMIM:616300
Rabson-Mendenhall Syndrome	Increased pineal volume, Thick hair, Onychauxis, Precocious puberty, Insulin-resistant diabetes m...	ORPHA:769
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt...	OMIM:227650
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Fair hair, Hypospadias, Testicular neoplasm, Microcephaly, Po...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Fair hair, Hypospadias, Testicular neoplasm, Microcephaly, Po...	ORPHA:363958
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcornea, Peters anomaly...	OMIM:243605
Crouzon Syndrome	Cerebellar hypoplasia, Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Corneal crystals, Pigmentary...	ORPHA:411629
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination	OMIM:611555
Papillorenal Syndrome	Microphthalmia, Cataract, Elevated circulating creatinine concentration, Lens luxation	OMIM:120330
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Basal ganglia calcific...	OMIM:127000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper...	ORPHA:881
Tetraamelia Syndrome 1	Microphthalmia, Cataract, Adrenal gland agenesis, Hypoplastic pelvis	OMIM:273395
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Microcephaly	OMIM:620237
Mirage Syndrome	Rocker bottom foot, Radial club hand, Thrombocytopenia, Leukopenia, Overlapping fingers, Hypoplas...	OMIM:617053
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short attention span, Broad-based gait, Ataxia, Hypospadias, Microcephaly, Melanocytic nevus, Hem...	OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Spotty hypopigmentation, Horseshoe kidney, Macroce...	OMIM:300860
3P25.3 Microdeletion Syndrome	Generalized myoclonic seizure, Microphthalmia, Bilateral tonic-clonic seizure, Generalized non-mo...	ORPHA:435638
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Cataract, Optic disc hypoplasia, Sandal gap, Short humerus, A...	OMIM:607323
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Ataxia, Abnorm...	ORPHA:636
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Abnormal sperm motility, Female infertility	ORPHA:244
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b...	ORPHA:3103
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Sparse eyebrow, Seizure, Small nail, Microphthalmia	OMIM:612530
Pitt-Hopkins Syndrome	Ataxia, Microcephaly, Postnatal growth retardation, Cryptorchidism, Hypopigmented skin patches, G...	ORPHA:2896
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Cryptorchidism, Postaxial...	ORPHA:3380
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Progressive microcephaly, Cerebral calcification, Leukodystrophy	OMIM:610333
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Synophrys, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Cereb...	ORPHA:447997
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Short foot, Hand polydactyly, Bro...	ORPHA:250989
Hydrolethalus	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Cryptorchidism	ORPHA:2189
Basal Cell Nevus Syndrome 1	Cataract, Ovarian fibroma, Down-sloping shoulders, Polydactyly, Short ribs, Bifid ribs, Short dis...	OMIM:109400
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Metaphyseal wideni...	OMIM:234100
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin	ORPHA:35125
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Heart And Brain Malformation Syndrome	Delayed CNS myelination, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Micro...	OMIM:616920
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Microcephaly, Disproportionate short stature, Hypopigmented skin patches, Attention deficit hyper...	ORPHA:2637
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Cockayne Syndrome Type 3	Dry hair, Cerebral white matter atrophy, Cataract, Basal ganglia calcification, Premature graying...	ORPHA:90324
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	CNS demyelination, Delayed CNS myelination, Partial agenesis of the corpus callosum, Thin corpus ...	OMIM:619653
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di...	ORPHA:233
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Short stature, Cryptorchidism, Growth delay, Hypogonadism, Atten...	ORPHA:221008
Mucolipidosis Ii Alpha/Beta	Growth delay, Severe postnatal growth retardation, Thin corpus callosum, Mucopolysacchariduria, T...	OMIM:252500
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,...	OMIM:603467
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Hepatoerythropoietic Porphyria	Red-brown urine, Red urine, Paresthesia, Hypopigmentation of the skin, Purple urine, Hyperpigment...	ORPHA:95159
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microph...	OMIM:600901
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
3Q29 Microdeletion Syndrome	Cataract, Microcephaly, Abnormality of skin pigmentation, Microphthalmia, Failure to thrive	ORPHA:65286
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Long fingers, Hypoplastic nipples	OMIM:156610
Porphyria, Congenital Erythropoietic	Short stature, Red urine, Hypopigmentation of the skin, Pink urine, Hyperpigmentation of the skin	OMIM:263700
Oculo-Palato-Cerebral Syndrome	Cataract, Small hand, Leukocoria, Short foot, Microphthalmia, Aplasia/Hypoplasia of the nails	ORPHA:2714
Teebi-Shaltout Syndrome	Syndactyly, Slow-growing hair, Rocker bottom foot, Highly arched eyebrow, Metatarsus adductus, Lo...	OMIM:272950
Gapo Syndrome	Short stature, Dysmenorrhea, Hypopigmented skin patches, Nephrolithiasis, Oligozoospermia, Growth...	ORPHA:2067
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism, Hip dislocation, Fi...	ORPHA:99776
Jacobsen Syndrome	Missing ribs, Abnormal eyelash morphology, Cryptorchidism, Microcornea, Macular hypoplasia, Clino...	OMIM:147791
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Lichen Planus Pemphigoides	Hypopigmented streaks	ORPHA:254478
Doors Syndrome	11 pairs of ribs, Cataract, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal fingerna...	ORPHA:79500
Tyrosinemia, Type I	Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Pancreatic islet-cell hyp...	OMIM:276700
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia of the corp...	OMIM:618569
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c...	ORPHA:42775
Myhre Syndrome	Thick eyebrow, Cataract, Overlapping toe, Cryptorchidism, Short toe, 2-3 toe syndactyly, Fine hai...	OMIM:139210
Trichohepatoenteric Syndrome 1	Hypospadias, Short stature, Galactosuria, Cognitive impairment, Intrauterine growth retardation, ...	OMIM:222470
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Absent septum pellucidum, Sclerocornea, Microcephaly, Pigmentary retinopathy, Colpoceph...	OMIM:309801
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypopigmented skin patches	ORPHA:1295
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndact...	OMIM:264480
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h...	OMIM:613451
Autoimmune Polyendocrinopathy Type 2	Hypogonadism, Hypopigmented skin patches	ORPHA:3143
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hypopigmented skin patches, Aplasia/Hypoplasia of the corpus callosum, Cerebellar...	ORPHA:1647
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas	ORPHA:2470
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly	OMIM:611134
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Microcephaly, Abnormality of hair texture, Aplasia/Hypoplasia...	ORPHA:96169
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormality of the hairline	OMIM:248450
Microcephaly-Micromelia Syndrome	Absent thumb, Absent radius, Missing ribs, Short tibia, Humeroradial synostosis, Forearm undergro...	OMIM:251230
Fanconi Anemia	Abnormal femur morphology, Abnormality of skin pigmentation, Triphalangeal thumb, Clinodactyly of...	ORPHA:84
Aicardi Syndrome	Abnormality of retinal pigmentation, Missing ribs, Precocious puberty, Rib fusion, Small hand, Ab...	ORPHA:50
Ohdo Syndrome, X-Linked	Overlapping toe, Sparse eyebrow, Short thumb, Cryptorchidism, Long thumb, High anterior hairline,...	OMIM:300895
Peroxisome Biogenesis Disorder 6B	Abnormal cerebral white matter morphology, Delayed menarche, Elevated circulating phytanic acid c...	OMIM:614871
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hypopigmented skin patches, Hematuria, Tubuloin...	ORPHA:183
Galloway-Mowat Syndrome 3	Failure to thrive, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoalbuminemia, Lis...	OMIM:617729
Aicardi Syndrome	Delayed CNS myelination, Cataract, Microcephaly, Precocious puberty, Partial agenesis of the corp...	OMIM:304050
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Growth delay...	ORPHA:79396
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches	ORPHA:626
Schilder Disease	Hyperintensity of cerebral white matter on MRI, CNS demyelination	ORPHA:59298
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Tapered finger, Short thumb, Cryptorchidism, Cutaneous syndactyly, Camptodactyly...	OMIM:619148
Orofaciodigital Syndrome Xiv	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, CNS hypomyelinat...	OMIM:615948
Leukodystrophy, Progressive, Early Childhood-Onset	Cerebral atrophy, Hypoplasia of the corpus callosum, Thick eyebrow, Leukodystrophy	OMIM:617762
Leukodystrophy, Hypomyelinating, 13	Delayed CNS myelination, Secondary microcephaly, Leukodystrophy, Abnormal periventricular white m...	OMIM:616881
Lymphedema-Distichiasis Syndrome	Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u...	OMIM:153400
Marden-Walker Syndrome	Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Camptodactyly, Microphthalmia	OMIM:248700
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Microcephaly, Ocular albinism, Generalized hypopigmenta...	OMIM:608233
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, Ataxia, White eyebrow, Cerebral dysmyelination, Cryptorchidism, Hypopigmented sk...	OMIM:609136
Cowden Syndrome	Abnormal penis morphology, Short stature, Ataxia, Abnormality of the kidney, Hypopigmented skin p...	ORPHA:201
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Abnormal circulating fatty-acid concentration, Primary adre...	ORPHA:139396
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Agenesis of corpus callosum, Axillary freckling, Hypopigmentation of...	OMIM:276300
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic b...	OMIM:617925
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot...	ORPHA:1969
Meckel Syndrome	Bowing of the long bones, Cataract, Anophthalmia, Pancreatic fibrosis, Sclerocornea, Pancreatic c...	ORPHA:564
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract, Microcephaly	ORPHA:891
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcephaly, Microcoria, Uveal ectropi...	OMIM:609049
Atelis Syndrome 2	Microcephaly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, D...	OMIM:620185
Combined Oxidative Phosphorylation Deficiency 4	Microcephaly, Polymicrogyria, Hyperammonemia, Leukodystrophy	OMIM:610678
Aicardi-Goutieres Syndrome 1	Intracerebral periventricular calcifications, Diabetes insipidus, Microcephaly, Basal ganglia cal...	OMIM:225750
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li...	OMIM:236680
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Cli...	OMIM:619539
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthalmia, Iris coloboma, Bro...	ORPHA:1236
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Leukodystrophy	OMIM:618688
Fetal Alcohol Syndrome	Microphthalmia, Generalized hirsutism	ORPHA:1915
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Abnorm...	ORPHA:3186
Childhood-Onset Spasticity With Hyperglycinemia	Nonketotic hyperglycinemia, Leukodystrophy	ORPHA:401866
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Anophthalmia, Highly arched eyebro...	ORPHA:2162
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo...	ORPHA:411634
Congenital Erythropoietic Porphyria	Red-brown urine, Porphyrinuria, Increased urinary porphobilinogen, Paresthesia, Hypopigmentation ...	ORPHA:79277
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microcornea, Microphthalmia	ORPHA:3412
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia, Hypoplasia of the ovary, I...	OMIM:619321
Fryns Syndrome	Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Cryptorchidism, Short...	OMIM:229850
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma	ORPHA:2250
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Ke...	OMIM:269200
Leukodystrophy, Hypomyelinating, 9	Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Microcephaly	OMIM:616140
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microph...	OMIM:227645
Phace Association	Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua...	OMIM:606519
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Hypopigmentation of the skin, Macrocephaly	OMIM:301066
Momo Syndrome	Hyperconvex nail, Abnormality of the thyroid gland, Bilateral microphthalmos, Femoral bowing, Sho...	ORPHA:2563
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Degcags Syndrome	Recurrent urinary tract infections, Hypopigmentation of hair, Hypospadias, Bilateral renal dyspla...	OMIM:619488
Fryns Syndrome	Hypoplastic fingernail, Corneal opacity, Cryptorchidism, Clinodactyly of the 5th finger, Micropht...	ORPHA:2059
Abetalipoproteinemia	CNS demyelination, Abetalipoproteinemia, Peripheral demyelination	OMIM:200100
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Autosomal Dominant Kenny-Caffey Syndrome	Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract, Hyperphosphatemia,...	ORPHA:93325
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Broad hallux, Optic nerve hypoplasia, Overlapping toe, Preaxial h...	ORPHA:508498
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Corneal opacity, Elevated circulating creatine kinase concentration, Cortical dys...	OMIM:175780
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Hyperammonemia, Leukodystrophy	OMIM:619051
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Microcephaly, Spotty hypopigmentation, Hypoplasia of the corpus callosum, S...	OMIM:615789
Leukodystrophy, Hypomyelinating, 4	Secondary microcephaly, Leukodystrophy	OMIM:612233
Rothmund-Thomson Syndrome	Hypopigmentation of the skin, Short stature, Infertility, Reticular hyperpigmentation	ORPHA:2909
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypospadias, Microcephaly, Postnatal growth retardation, Disproportionate short stature, Areas of...	OMIM:210720
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Abnormal CNS myelination	OMIM:619053
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Delayed CNS myelination, Corneal opacity, Microcephaly, Synophrys, Cafe-au-lait spot, Thin eyebro...	OMIM:608670
X-Linked Agammaglobulinemia	Short stature, Hypopigmented skin patches	ORPHA:47
Marchiafava-Bignami Disease	CNS demyelination, Abnormal basal ganglia morphology, Abnormal corpus callosum morphology	ORPHA:221074
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Preaxia...	OMIM:227646
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic corpus callosum, Lo...	OMIM:617281
Joubert Syndrome 14	Highly arched eyebrow, Microphthalmia, Postaxial polydactyly	OMIM:614424
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Corneal opacity, Absent...	ORPHA:2556
Multiple Sulfatase Deficiency	Corneal opacity, Cerebral atrophy, CNS demyelination, Abnormal periventricular white matter morph...	OMIM:272200
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndactyly, Phthisis bu...	OMIM:300166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Delayed CNS myelination, Microcephaly, Peters anomaly, Widow's peak, Hypoplastic anterior commiss...	OMIM:616975
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Abnormality o...	ORPHA:1052
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Cataract, Tapered finger, Cryptorchidism, Small hand, Hip dysplasia, Sparse hai...	OMIM:620005
Hurler Syndrome	Opacification of the corneal stroma, Abnormal CNS myelination, Corneal opacity, Hirsutism	OMIM:607014
Treacher-Collins Syndrome	Cataract, Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Abnormality of the a...	ORPHA:861
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Failure to thrive, Cerebral calcification, Small for gestational age, Mic...	OMIM:620024
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Abnormal eyelash morphology, Abn...	ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Pachygyria, Aplasia/H...	OMIM:253280
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Delayed CNS myelination, Cataract, Small for gestational age, Hype...	OMIM:613406
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Corpus callosum atrophy, Diffuse leukoencephalopathy, Symmetric peripheral demyelination, Leukody...	OMIM:169500
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Female hypogonadism, Toe syndactyly, Scleroco...	OMIM:607932
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Isolated Sedoheptulokinase Deficiency	Abnormal CNS myelination, Subcortical cerebral atrophy, Steatorrhea	ORPHA:440713
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Multiple Sclerosis, Susceptibility To	CNS demyelination	OMIM:126200
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Cryptorchidism, Long fingers, Synophrys, Low anterior hairline, 2-3 toe syndactyl...	OMIM:616734
Monosomy 9P	Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones, C...	ORPHA:261112
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Mesoaxial polydactyly, Radial bowing, Precocious pub...	ORPHA:672
Rothmund-Thomson Syndrome Type 2	Short stature, Cryptorchidism, Growth delay, Hypopigmentation of the skin, Hyperpigmentation of t...	ORPHA:221016
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypogonadism, Microce...	OMIM:129900
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Failure to thrive, Leukodystrophy	ORPHA:444013
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Synophrys, Primary amenorrhea, Microphth...	OMIM:603457
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Absent nipple, Broad hallux, Aplasia of the thymus, Sparse eyebrow, Congenita...	OMIM:620186
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premature graying of hair, Hypogona...	ORPHA:163746
Lichen Planopilaris	Hypopigmented skin patches	ORPHA:525
Mosaic Trisomy 20	Abnormality of the kidney, Cryptorchidism, Depigmentation/hyperpigmentation of skin, Horseshoe ki...	ORPHA:1724
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinoda...	ORPHA:306542
Histiocytoid Cardiomyopathy	Corneal opacity, Microphthalmia, Megalocornea, Failure to thrive, Agenesis of corpus callosum, Co...	ORPHA:137675
Norrie Disease	Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Cachexia, Microcephaly, Scler...	ORPHA:649
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hyperglycinemia, Leukodystrophy	OMIM:614299
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Absence of pubertal development, Hypoplasia of the corp...	ORPHA:314679
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Hypopigmentation of hair, Cataract, Sclerocornea, Proximal placement of thumb,...	ORPHA:818
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypo...	OMIM:604292
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor...	ORPHA:1974
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Microcephaly, Leukoencephalopathy, Leukodystrophy, F...	ORPHA:2609
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Foot polydactyly, Short palm, Microphthalmia, Iris coloboma	ORPHA:268249
Monosomy 9Q22.3	Cataract, Ovarian fibroma, Abnormal rib morphology, Polydactyly, Microphthalmia	ORPHA:77301
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Increased head circumference, Vesicoureteral ...	ORPHA:821
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Dyskeratosis Congenita	Cerebral calcification, Short stature, Displacement of the urethral meatus, Hypermelanotic macule...	ORPHA:1775
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, High anterior hairline	ORPHA:363444
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Sparse hair, Failure to ...	OMIM:151050
Craniorachischisis	Bifid sternum	ORPHA:63260
Adult Krabbe Disease	Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology, CNS demyelination, ...	ORPHA:206448
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Cerebral calcification, Leukoencephalopathy, Fine hair, Premature graying of hair, Nail dystrophy...	OMIM:612199
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Clinodactyly of the 5th finger, Mic...	ORPHA:1587
White-Kernohan Syndrome	Dysplastic corpus callosum, Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal ...	OMIM:619426
Syndromic Diarrhea	Hypopigmentation of hair, Short stature, Renal hypoplasia, Polycystic kidney dysplasia, Intrauter...	ORPHA:84064
Joubert Syndrome 2	Microphthalmia, Seizure	OMIM:608091
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Holoprosencephaly-Postaxial Polydactyly Syndrome	Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Microphthalmia, Abnormality of th...	ORPHA:2166
Proboscis Lateralis	Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas...	ORPHA:141099
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cryptorchidism	ORPHA:2728
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Cortical dysplasia, Bilateral microphthalmos, Simplified gy...	ORPHA:468631
Localized Scleroderma	Hypopigmented skin patches, Abnormality of the kidney, Hyperpigmentation of the skin, Vitiligo	ORPHA:90289
Late-Infantile/Juvenile Krabbe Disease	Abnormal CNS myelination	ORPHA:206443
Tetragametic Chimerism	Cryptorchidism, Hypopigmented skin patches, Perineal hypospadias, Micropenis, Abnormal testis mor...	ORPHA:199310
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Absent anterior cham...	OMIM:259770
Frontofacionasal Dysplasia	Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma	OMIM:229400
Holoprosencephaly 7	Microcephaly, Synophrys, Partial agenesis of the corpus callosum, Panhypopituitarism, Bilateral m...	OMIM:610828
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Posterior embryotoxon, Hyperthyroidism, Cataract, Microcephaly, Hypopigmented...	ORPHA:567
Eec Syndrome	Short stature, Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Ge...	ORPHA:1896
De Sanctis-Cacchione Syndrome	Hypermelanotic macule, Microcephaly, Keratitis, Basal ganglia calcification, Cerebral atrophy, Co...	OMIM:278800
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation, Clinodactyly of the 5th f...	OMIM:613884
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Cerebral edema, Leukodystrophy, Microcephaly	OMIM:614462
X-Linked Intellectual Disability, Snyder Type	Short stature, Hypospadias, Ectopic kidney, Megalencephaly, Inability to walk, Cryptorchidism, Un...	ORPHA:3063
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Adrenal hyp...	OMIM:249000
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Abnormal tibi...	ORPHA:138
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Short stature, Hypermelanotic macule, Hypopigmented skin patches on arms,...	OMIM:607944
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal basal...	ORPHA:83597
Fraser Syndrome 2	Hypoplasia of the thymus, Microphthalmia, Low anterior hairline, Cutaneous syndactyly	OMIM:617666
Systemic Sclerosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d...	ORPHA:90291
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Astigmatism, Se...	OMIM:618820
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Cataract, Overlapping toe, Sutural cataract, Broad hallux, Mesoaxial foot polydact...	OMIM:612474
Townes-Brocks Syndrome	Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly, Partia...	ORPHA:857
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Han...	OMIM:214800
Hereditary Acrokeratotic Poikiloderma	Short stature, Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patc...	ORPHA:2907
Zttk Syndrome	Curly hair, Periventricular leukomalacia, Sparse eyebrow, Dysplastic corpus callosum, Abnormal ce...	OMIM:617140
Renpenning Syndrome 1	Cataract, Brittle hair, Sparse hair, Synostosis of the proximal phalanx of the thumb with the 1st...	OMIM:309500
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, La...	OMIM:235730
Fontaine Progeroid Syndrome	Sparse scalp hair, Failure to thrive, Absent nipple, Small for gestational age, Microcephaly, Syn...	OMIM:612289
Immunodeficiency 23	Abnormal CNS myelination, Failure to thrive	OMIM:615816
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Seizure, Small nail, Microphthalmia	OMIM:100300
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Proximal placement of thumb, Supernumerary nipple, Cryptorchidism, Short ...	OMIM:113620
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Lateral ventricle dilatation, Leukodystrophy, Anterior polar cataract, Failure to thrive	OMIM:619575
Metachromatic Leukodystrophy, Late Infantile Form	Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci	ORPHA:309256
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Cataract, Corneal opacity, Short humerus, Aplasia of the ulna...	OMIM:268300
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Highly arched eyebrow, ...	OMIM:303600
Neu-Laxova Syndrome 1	Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Absent eyelashes, Cryptorchidism...	OMIM:256520
Metachromatic Leukodystrophy, Juvenile Form	Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci	ORPHA:309263
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi...	ORPHA:95455
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Cat Eye Syndrome	Absent radius, Microphthalmia, Iris coloboma	OMIM:115470
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Shyness, Dysplastic corpus callosum, Hypopla...	ORPHA:466791
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Aicardi-Goutières Syndrome	Cerebral calcification, Diabetes mellitus, Microcephaly, Developmental glaucoma, Porencephalic cy...	ORPHA:51
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Hypospadias, Hypoplasia of the pons, Cryptorchidis...	ORPHA:163956
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Failure to thrive in infancy, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corp...	ORPHA:500150
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes,...	OMIM:219000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Inappropriate antidiuretic hormone secretion, Failure to thrive in infancy, Leukodystrophy, Micro...	ORPHA:79124
Mitochondrial Complex I Deficiency, Nuclear Type 1	Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalopathy, Leukodystrophy, Foc...	OMIM:252010
Glycogen Storage Disease Ii	Abnormal CNS myelination, Increased circulating NT-proBNP concentration, Elevated circulating cre...	OMIM:232300
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Papillon-Lefèvre Syndrome	Cerebral calcification, Hypopigmented skin patches	ORPHA:678
Fanconi Anemia, Complementation Group L	Absent radius, Microphthalmia, Cafe-au-lait spot, Absent thumb	OMIM:614083
Sarcoidosis	Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephri...	ORPHA:797
Familial Tumoral Calcinosis	Nephrocalcinosis, Hypopigmented skin patches	ORPHA:53715
Metachromatic Leukodystrophy, Adult Form	Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci	ORPHA:309271
Atypical Werner Syndrome	Renal neoplasm, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Short statu...	ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Highly arched eyebrow, Microcephaly, Partial agenesis of the corpus ca...	OMIM:220111
Secondary Syringomyelia	Fatigable weakness, CNS demyelination	ORPHA:99857
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Sparse hair, Woolly hair, ...	ORPHA:565
Niemann-Pick Disease Type C	Cerebral atrophy, Abnormal CNS myelination, Hypoplasia of the corpus callosum, Leukodystrophy, Fr...	ORPHA:646
Cerebrotendinous Xanthomatosis	Abnormal globus pallidus morphology, Hypermyelinated retinal nerve fibers, Hyperintensity of cere...	ORPHA:909
8Q24.3 Microdeletion Syndrome	Long toe, Ectopic posterior pituitary, Congenital hip dislocation, Short femur, Optic nerve hypop...	ORPHA:508488
Mend Syndrome	Short stature, Cryptorchidism, Spotty hypopigmentation, Crossed fused renal ectopia, Dandy-Walker...	OMIM:300960
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Large basal ganglia, Microcornea, Agenesis of corpus callosum, Iris co...	ORPHA:261552
Pallister-Killian Syndrome	Relative macrocephaly, Rhizomelia, Hypospadias, Mesomelic/rhizomelic limb shortening, Inability t...	OMIM:601803
Progressive Multifocal Leukoencephalopathy	CNS demyelination	ORPHA:217260
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, Delayed puberty, Slender build	OMIM:300967
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination	ORPHA:221091
Fraser Syndrome	Finger syndactyly, Anophthalmia, Toe syndactyly, Abnormal hair pattern, Cryptorchidism, Microphth...	ORPHA:2052
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mowat-Wilson Syndrome	Focal cortical dysplasia, Cataract, Microcephaly, Iris coloboma, Large basal ganglia, Abnormal ce...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Lateral ventr...	ORPHA:261537
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Down-sloping shoulders, Cryptorchidism, Clinodactyly, Microcornea, Cili...	OMIM:309800
Holoprosencephaly 1	Microphthalmia, Seizure	OMIM:236100
Holoprosencephaly 2	Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Microphthalmia, Agenesis of corpus callosum...	OMIM:157170
Kindler Syndrome	Spotty hyperpigmentation, Urethral stenosis, Spotty hypopigmentation, Phimosis	OMIM:173650
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morpholo...	OMIM:154500
Bickerstaff Brainstem Encephalitis	Acute demyelinating polyneuropathy, CNS demyelination, Anisocoria, Mydriasis	ORPHA:79138
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Leukodystrophy	OMIM:601539
Acute Transverse Myelitis	CNS demyelination, Decreased circulating copper concentration	ORPHA:139417
Maternal Phenylketonuria	Microcephaly, Abnormal renal morphology, Hypoplasia of the corpus callosum, Intrauterine growth r...	ORPHA:2209
Craniofacial Microsomia 1	Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Cervical ribs, Limbal dermoid, M...	OMIM:164210

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.

Phenotype	Allele	Zygosity	Life Stage
Eye - MPATH pathological entity term cataract	Pah^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Pah^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological entity term cataract; lens extrusion	Pah^em1(IMPC)Tcp	HOM	Early adult

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 Pah.

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

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MGI Allele	Allele Type	Produced
Pah^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pah^{tm115813(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pah^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Pah^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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: Pah MGI:97473

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Histopathology

Gross Pathology and Tissue Collection

Human diseases caused by Pah mutations

Histopathology

IMPC related publications

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