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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
small adrenal glands	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal sternum morphology	Pah^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal cornea morphology	Pah^em1(IMPC)Tcp	HOM	Early adult	2.65×10^-05
abnormal sternum morphology	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
microphthalmia	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
small spleen	Pah^em1(IMPC)Tcp	HET	Early adult	0.00
female infertility	Pah^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Pah^em1(IMPC)Tcp	HOM	Early adult	3.53×10^-06
decreased exploration in new environment	Pah^em1(IMPC)Tcp	HET	Early adult	4.17×10^-06

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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 Whole Body Lateral Orientation

13 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Eye Morphology

Images Slit Lamp

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Histopathology

Images

3 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 (1036 diseases)

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

Disease	Matching phenotypes	Source
Phenylketonuria	Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Fa...	OMIM:261600
Classic Phenylketonuria	Mental deterioration, Memory impairment, Hypopigmentation of the skin, Cerebral calcification, Mi...	ORPHA:79254
Maternal Phenylketonuria	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Abnormal renal morphology, Mi...	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	Silver-gray hair, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation in hair shaf...	OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus, Microcephaly, Short s...	ORPHA:2435
Gemignani Syndrome	Impaired pain sensation, Hypopigmented skin patches, Delayed puberty, Ataxia, Short stature, Hypo...	ORPHA:2074
Phenylketonuria	Hypopigmentation of the skin, Short attention span, Microcephaly, Phenylalaninuria, Abnormal cere...	ORPHA:716
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Shor...	ORPHA:241
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin, Athetosis, Growth delay, 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	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	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, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia	OMIM:233270
Lissencephaly 8	Cataract, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Elevated circ...	OMIM:617255
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
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
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Hypopigmentation of the skin, Premature graying of hair, Generalized h...	ORPHA:33445
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea	OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Gait disturbance, Hypopigmented skin patches	ORPHA:2819
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Tietz Syndrome	Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of...	ORPHA:42665
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:607624
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Cataract, CNS hypomyelination, Cerebral atrophy, Long eyelashes, Simplifie...	OMIM:619286
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Alg2-Cdg	Cataract, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Cerebral...	ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Microcephaly, Decreased LDL cholesterol concentration, De...	OMIM:616834
Albinism, Oculocutaneous, Type Iv	Albinism, Macular hypoplasia, Hypopigmentation of hair, Blue irides	OMIM:606574
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Broad-based gait, ...	ORPHA:411515
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Corneal opacity	ORPHA:2432
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral cortical atrophy, CNS hypomyelination, Failure to thrive, Microcephaly, Cerebral hypomye...	ORPHA:369939
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Autoimmune Polyendocrinopathy Type 1	Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr...	ORPHA:3453
Phenylketonuria	Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in urine, Fa...	OMIM:261600
Hidrotic Ectodermal Dysplasia	Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse...	ORPHA:189
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Irregular hyperpigmentation, Decreased fertility, Nephrolithiasis, Delayed puberty, Generalized h...	ORPHA:1816
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	CNS hypomyelination, Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum, Hirsuti...	ORPHA:527497
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination, Developmental cataract	ORPHA:85163
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr...	ORPHA:170
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Microcephaly, Hypopigmentation of the skin	ORPHA:2513
Lissencephaly, X-Linked, 1	Pachygyria, Postnatal growth retardation, Agenesis of corpus callosum, Ataxia, Micropenis, Agyria...	OMIM:300067
Leukodystrophy, Hypomyelinating, 11	Hypoplasia of the corpus callosum, CNS hypomyelination, Failure to thrive, Leukodystrophy	OMIM:616494
4H Leukodystrophy	Cataract, Striatal T2 hyperintensity, Decreased response to growth hormone stimulation test, Abno...	ORPHA:289494
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Cataract, Microcornea, Microphthalmia	ORPHA:2528
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Short stature, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Warburg Micro Syndrome 1	Facial hypertrichosis, Microcornea, Failure to thrive, Cerebral atrophy, Hypertrichosis, Hypoplas...	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
Classic Phenylketonuria	Mental deterioration, Memory impairment, Hypopigmentation of the skin, Cerebral calcification, Mi...	ORPHA:79254
Premature Ovarian Failure 12	Primary amenorrhea, Microphthalmia	OMIM:616947
Nanophthalmos	Abnormality of retinal pigmentation, Microphthalmia	ORPHA:35612
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Leukodystrophy, Hypomyelinating, 10	Cerebral cortical atrophy, Reduced cerebral white matter volume, CNS hypomyelination, Prominent e...	OMIM:616420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Microphthalmia, ...	OMIM:610023
Huppke-Brendel Syndrome	CNS hypomyelination, Cerebral atrophy, Developmental cataract, Decreased circulating ceruloplasmi...	OMIM:614482
Hereditary Methemoglobinemia	Abnormality of the nail, Temporal cortical atrophy, Small basal ganglia, Microcephaly, Cerebral h...	ORPHA:621
Leukoencephalopathy With Vanishing White Matter 1	Leukoencephalopathy, Cessation of head growth, Cerebral hypomyelination, CNS demyelination, Prima...	OMIM:603896
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformati...	ORPHA:500166
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, Reduced cerebral white matter volume, CNS hypomyelination, Cerebral at...	OMIM:613477
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, CNS hypomyelination, Failure to thrive, Abnormal circulating...	ORPHA:88618
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Cataract, Small for gestational age, Hirsutism	ORPHA:85288
Microcephaly-Capillary Malformation Syndrome	Abnormal hair whorl, CNS hypomyelination, Small nail, Failure to thrive, Cerebral atrophy, Hypopl...	OMIM:614261
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	CNS hypomyelination, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly, Delayed ...	OMIM:616577
Hsd10 Disease	Ataxia, Elevated urinary 3-hydroxybutyric acid, Frontotemporal cerebral atrophy, Postnatal growth...	ORPHA:391417
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract, CNS hypomyelination	OMIM:620425
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Potocki-Lupski Syndrome	Failure to thrive, Hypocholesterolemia, Hypoplasia of the corpus callosum, Microcephaly, Hypothyr...	OMIM:610883
Developmental And Epileptic Encephalopathy 79	Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination, Secondary microc...	OMIM:618559
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Developmental And Epileptic Encephalopathy 86	Microcephaly, CNS hypomyelination, Small for gestational age	OMIM:618910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Leukoencephalopathy, Cataract, CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus ca...	OMIM:619260
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Leukodystrophy, Hypomyelinating, 15	CNS hypomyelination, Failure to thrive, Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpu...	OMIM:617951
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Cerebral calcific...	ORPHA:79476
Deafness, Dystonia, And Cerebral Hypomyelination	Microcephaly, Cerebral hypomyelination, Failure to thrive, Cerebral atrophy	OMIM:300475
Developmental And Epileptic Encephalopathy 93	CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Iris colo...	OMIM:618012
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Cerebral hypoplasia, Abnormal cortical gyration, Failure to thrive...	ORPHA:79351
Squalene Synthase Deficiency	Polymicrogyria, Failure to thrive in infancy, Hypocholesterolemia, Abnormality of hair pigmentati...	OMIM:618156
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi, CNS hypomyelination, Abnormal pituitary gland morphology	ORPHA:643
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Beta-alaninuria, Hyp...	OMIM:614105
Xeroderma Pigmentosum, Complementation Group G	Infantile spasms, Microphthalmia	OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract, Abnormal fingernail morphology, Failure to thrive	ORPHA:2278
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypoplasia of the fovea, Hypopigmentation of hair, Hypopigmentatio...	OMIM:619165
Woolly Hair Nevus	Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero...	ORPHA:79414
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Short stature, Hypopigmentation of the skin	OMIM:610798
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Highly arched eyebrow, CNS hypomyelination, Lumbar hypertrichosis, Low anterior hairline, Microce...	OMIM:618622
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Hypoplasia of the corpus callosum...	OMIM:607694
Microphthalmia, Isolated 4	Postaxial polydactyly, Absent testis, Microphthalmia	OMIM:613094
Mucolipidosis Iv	Hypergastrinemia, Dysplastic corpus callosum, Microcephaly, Corneal opacity, Opacification of the...	OMIM:252650
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressi...	OMIM:615760
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Toenail dysplasia, Short toe, Aplasia of the middle ...	OMIM:615297
Neurodevelopmental Disorder With Language Delay And Seizures	CNS hypomyelination, Hypomagnesemia, Diffuse cerebral atrophy, Hypothyroidism, Thin corpus callosum	OMIM:619908
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Hypermelanotic macule, Hypomelanotic macule, Spotty hypopigmentation, Retic...	ORPHA:79397
Leukodystrophy, Hypomyelinating, 5	CNS hypomyelination, Leukodystrophy, Cerebral white matter atrophy, Developmental cataract, Onion...	OMIM:610532
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Charcot-Marie-Tooth Disease, Type 4A	CNS hypomyelination, Basal lamina onion bulb formation, Decreased number of peripheral myelinated...	OMIM:214400
Glutamine Deficiency, Congenital	CNS hypomyelination, Lateral ventricle dilatation, Hyperammonemia, Hypoplasia of the corpus callo...	OMIM:610015
Al-Raqad Syndrome	Inability to walk, Microcephaly, Hypopigmentation of the skin, Gait ataxia	OMIM:616459
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	CNS hypomyelination, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	ORPHA:481152
Kaya-Barakat-Masson Syndrome	Cerebral atrophy, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum	OMIM:619125
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Spasticity, Childhood-Onset, With Hyperglycinemia	Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy	OMIM:616859
Tremor-Ataxia-Central Hypomyelination Syndrome	Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Abnormal basal ganglia morphology...	ORPHA:447896
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	CNS hypomyelination, Hypergonadotropic hypogonadism	ORPHA:88637
Leukodystrophy, Hypomyelinating, 22	CNS hypomyelination, Astigmatism	OMIM:619328
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hypocholesterolemia, Dysplastic corpus callosum, Developmental cataract, Brittle ...	OMIM:618810
2Q24 Microdeletion Syndrome	Cataract, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology...	ORPHA:1617
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Thin corpus callosum, CNS hypomyelination	OMIM:619688
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypoplasia of the fovea, Blue irides...	OMIM:203200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Cerebral atrophy, Microcephaly, Microphthalmia, Partial agenesis of the co...	OMIM:616171
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Secondary microcephaly, Diffuse white matter abnormalities, Microcephaly, Leukodystrophy	OMIM:616763
Peroxisome Biogenesis Disorder 11A (Zellweger)	CNS hypomyelination, Failure to thrive, Lissencephaly, Polymicrogyria	OMIM:614883
Phakomatosis Pigmentovascularis	Cerebral cortical atrophy, Hypopigmented skin patches, Cerebral calcification, Paresthesia, Gener...	ORPHA:2875
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Short stature...	ORPHA:177910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Type II lissencephaly, Low anterior hairline, Elevated circulating creatine kinase conc...	OMIM:613153
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Leukodystrophy, Elevated circulating creatine kinase concentration, Micro...	OMIM:617613
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:89838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Sp...	ORPHA:79399
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi...	OMIM:601706
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Multiple Mitochondrial Dysfunctions Syndrome 4	Abnormal periventricular white matter morphology, Leukodystrophy	OMIM:616370
Combined Oxidative Phosphorylation Deficiency 53	CNS hypomyelination, Failure to thrive, Secondary microcephaly, Dysplastic corpus callosum, Eleva...	OMIM:619423
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Hypopigmentation of the skin	OMIM:617294
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Microphthalmia With Brain And Digit Anomalies	Iris coloboma, Cataract, Postaxial foot polydactyly, Microcornea, Finger syndactyly, Cryptorchidi...	ORPHA:139471
Ddost-Cdg	CNS hypomyelination, Failure to thrive, Primary hypothyroidism	ORPHA:300536
Pelizaeus-Merzbacher Disease	CNS hypomyelination, Failure to thrive, Sudanophilic leukodystrophy, Microcephaly, Abnormal CNS m...	OMIM:312080
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Seizure, Microphthalmia	OMIM:251270
Biemond Syndrome Type 2	Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Azoospermia, Agenesis of corpus callosum, Microcephaly, Short stature	ORPHA:261519
Null Syndrome	Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy	ORPHA:280234
Mmep Syndrome	Triphalangeal thumb, Cryptorchidism, Split foot, Microphthalmia	ORPHA:3434
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Broad-based gait, ...	ORPHA:411511
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Focal-onset seizure, Tonic seizure, Microphthalmia, Focal motor seizure, Errati...	OMIM:308350
Cofs Syndrome	Cataract, Cerebral cortical atrophy, Hypogonadism, Cerebral calcification, Abnormality of retinal...	ORPHA:1466
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Seizure, Microphthalmia	OMIM:164180
Developmental And Epileptic Encephalopathy 75	Cerebral cortical atrophy, CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus ...	OMIM:618437
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Microcephaly, Thin corpus callosum, CNS hypomyelination	OMIM:620023
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	CNS hypomyelination, Leukodystrophy, Hypoplasia of the corpus callosum, Hypogonadotropic hypogona...	OMIM:614381
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal...	OMIM:604213
Dihydropyrimidine Dehydrogenase Deficiency	Seizure, Microphthalmia	OMIM:274270
Combined Oxidative Phosphorylation Deficiency 24	CNS hypomyelination, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Elevated cir...	OMIM:616239
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Spar...	OMIM:234050
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short...	OMIM:169550
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy, Astigmatism, Microcephaly, Pachyg...	OMIM:619576
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, CNS hypomyelination, Failure to thrive, Increased caudate lactate le...	ORPHA:3008
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Leukoencephalopathy, CNS hypomyelination, Hypoplasia of the corpus callosum	OMIM:615281
Hypocalcemia, Autosomal Dominant 2	Basal ganglia calcification, Paresthesia, Postnatal growth retardation	OMIM:615361
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:619938
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Delayed myelination	ORPHA:599373
Pelizaeus-Merzbacher Disease, Transitional Form	CNS hypomyelination	ORPHA:280224
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Broad-based gait, ...	ORPHA:98794
Neuropathy, Congenital Hypomyelinating, 3	Microcephaly, Cachexia, CNS hypomyelination, Hypoplasia of the corpus callosum	OMIM:618186
Developmental And Epileptic Encephalopathy 78	Microcephaly, CNS hypomyelination	OMIM:618557
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly, Failure to thrive	OMIM:618276
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	CNS hypomyelination, Leukodystrophy	OMIM:617560
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone...	OMIM:617442
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Heterochromia iridis, Ataxia, Hypopigmen...	ORPHA:2885
Spastic Paraplegia 44, Autosomal Recessive	CNS hypomyelination, Hypoplasia of the corpus callosum	OMIM:613206
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, CNS hypomyelination, Hypoplasia of the corpus callosum, Microph...	OMIM:614230
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Cerebral atrophy, Hypocholesterolemia, Microcephaly, Delayed ...	OMIM:608776
Orofaciodigital Syndrome Xvii	CNS hypomyelination, Decreased body weight	OMIM:617926
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Cerebral cortical atrophy, Peripheral hypomyelination, Hypogonadotropic hy...	ORPHA:48431
Leukoencephalopathy, Brain Calcifications, And Cysts	Leukoencephalopathy, Cerebral calcification, Leukodystrophy	OMIM:614561
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Primary microcephaly, Microphthalmia, Cort...	OMIM:615771
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Hyperinsulinemia, Delayed puberty, Red hair, Growth delay	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Hyperinsulinemia, Delayed puberty, Red hair, Growth delay	ORPHA:71526
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Microcornea, Sparse pubic hair, Female infertility...	OMIM:110100
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Erythrokeratodermia Variabilis	Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,...	ORPHA:317
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches, Neutral hyperaminoaciduria, Abnormal uri...	ORPHA:2116
Cerebrooculofacioskeletal Syndrome 1	Cataract, Failure to thrive, Basal ganglia calcification, Hirsutism, Agenesis of corpus callosum,...	OMIM:214150
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Iris coloboma, Abnormal rib morphology	ORPHA:195
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Slc35A2-Cdg	Hypopigmentation of the skin, Elevated circulating thyroid-stimulating hormone concentration, Cer...	ORPHA:356961
Folinic Acid-Responsive Seizures	Cerebral hypomyelination, Frontotemporal cerebral atrophy, Delayed myelination	ORPHA:79097
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microphthalmia	OMIM:616570
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Hy...	OMIM:611584
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Focal hyperkinetic seizure, Generalized-onset seizure, Multifocal seizu...	ORPHA:77299
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, CNS hypomyelination	OMIM:616158
Adenylosuccinase Deficiency	CNS hypomyelination, Cerebral atrophy, Inappropriate laughter, Microcephaly, Cerebral hypomyelina...	OMIM:103050
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Broad-based gait, ...	ORPHA:98795
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Sparse eyebrow, CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, E...	OMIM:617193
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Pierpont Syndrome	Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Cryptorch...	ORPHA:487825
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn...	ORPHA:1806
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Hypointensity of cerebral white matter on MRI, Leukodystrophy	OMIM:619196
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Highly arched eyebrow, Dysplastic corpus c...	ORPHA:502430
Immunodeficiency 26 With Or Without Neurologic Abnormalities	CNS hypomyelination, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Simplified gyra...	OMIM:615966
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Sparse lateral eyebrow, Astigmatism, Down-sloping shoulders, Microphthalmia, Camptodactyly	OMIM:619694
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation	ORPHA:69125
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Split foot, Microphthalmia	OMIM:601349
Rodrigues Blindness	Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair	OMIM:268320
Pierpont Syndrome	Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Cryptorch...	OMIM:602342
Leukodystrophy, Hypomyelinating, 2	Demyelinating motor neuropathy, Cerebral hypomyelination, Cerebral atrophy, Leukodystrophy	OMIM:608804
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	CNS hypomyelination, Failure to thrive, Cerebral atrophy, Hippocampal atrophy, Decreased response...	OMIM:618922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Focal cortical dysplasia, Hypoplasia of the corpus callosum, Elevated circulating creatine kinase...	OMIM:613155
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones...	ORPHA:93267
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Fair hair, Congenital hypothyroidism, Cryptorchidism, Brachydactyly, Short...	OMIM:614613
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Microcephaly, Intrauterine growth retardation, Hypopigmentation of the skin	ORPHA:261304
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Methionine Malabsorption Syndrome	White hair, Blue irides, Seizure	OMIM:250900
Myoclonic-Astatic Epilepsy	Frontal balding, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bi...	ORPHA:1942
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Intrauterine growth retardation, Reduced renal corticomedullary dif...	OMIM:618541
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract, Failure to thrive in infancy, Delayed CNS myelination, Microphthalmia	OMIM:618805
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Short metacarpal, Hy...	ORPHA:85167
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hypopigmentation of the skin, Fair hair, Cerebral atrophy	OMIM:269920
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Failure to thrive, Leukodystrophy, Cerebral atrophy, Elevated circulating 2-trans...	OMIM:616034
17Q12 Microduplication Syndrome	Microphthalmia, Seizure, Synophrys	ORPHA:261272
Microphthalmia, Isolated 5	Cataract, Bone spicule pigmentation of the retina, Microphthalmia	OMIM:611040
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Secondary microcephaly, Generalized hirsutism, Cerebral hypomyelination, Primary microcephaly, Fr...	OMIM:612949
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi...	OMIM:615830
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cataract, Cryptorchidism, Microphthalmia	OMIM:601794
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit...	OMIM:610202
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, Microcephaly, White eyebrow, Wh...	ORPHA:2884
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hyperinsulinemia, Micro...	ORPHA:79237
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Hypopigmented skin patches, Preaxial hand polydac...	ORPHA:1553
Developmental And Epileptic Encephalopathy 29	Microcephaly, CNS hypomyelination, Failure to thrive, Cerebral atrophy	OMIM:616339
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Leukodystrophy, Hypomyelinating, 6	Microcephaly, Cerebral hypomyelination, Leukodystrophy	OMIM:612438
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Cataract, Cryptorchidism, Microphthalmia	ORPHA:363741
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Cerebral hypomyelination, Delayed CNS myelination, Hypoplasia of the corpus cal...	OMIM:612164
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Vitiligo, Cognitive impairment, Short stat...	ORPHA:3437
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	CNS hypomyelination, Microcephaly, Delayed CNS myelination, Thin corpus callosum, Paroxysmal burs...	OMIM:619580
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Leber Congenital Amaurosis 1	Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Hyperthreoninemia	OMIM:204000
Pelizaeus-Merzbacher Disease In Female Carriers	Abnormal corpus callosum morphology, Hyperintensity of cerebral white matter on MRI, CNS hypomyel...	ORPHA:280229
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Combined Oxidative Phosphorylation Deficiency 11	Cerebral cortical atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Pachygyria, De...	OMIM:614922
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Adrenal hyperplasia, Primary amenorrhea	OMIM:202110
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Broad eyebro...	ORPHA:457351
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy, Hypoplasia of the corpus callosum, Agenesis of corpus call...	OMIM:300887
Cerebrooculofacioskeletal Syndrome 2	Cataract, Rocker bottom foot, Camptodactyly of finger, Developmental cataract, Microphthalmia, Sp...	OMIM:610756
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Short stature, Abnormal localization of kidney, Delayed puberty, Hypopigmented skin patches	ORPHA:1825
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Microcephaly, Cerebral hypomyelinati...	ORPHA:438114
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th...	OMIM:266510
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Hypoplasia of the corpus callosum, Delayed CNS myel...	OMIM:618804
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Leukoencephalopathy, Cataract, Polymicrogyria, Type II lissencephaly, Elevated circulating creati...	OMIM:615181
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Microphthalmia, Absent distal phalanges, 2-5...	OMIM:619339
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Alg3-Cdg	Hypopigmentation of the skin, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:79321
Gm2 Gangliosidosis, Ab Variant	Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Postnatal growth retardation, Ch...	ORPHA:309246
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmen...	ORPHA:290
Temtamy Syndrome	Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Iris coloboma, Genu varum	ORPHA:1777
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Asplenia, Hypoplastic spleen	OMIM:602361
Autosomal Recessive Spastic Paraplegia Type 44	CNS hypomyelination	ORPHA:320401
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2251
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Vici Syndrome	Cerebral cortical atrophy, Hypopigmentation of the skin, Hypoplasia of the pons, Renal tubular ac...	ORPHA:1493
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Even-Plus Syndrome	Highly arched eyebrow, Cataract, Agenesis of corpus callosum, Dysplastic corpus callosum, Sparse ...	OMIM:616854
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Seizure, Microphthalmia	ORPHA:858
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Microphthalmia, Abnormal femoral neck/head morphology, Metap...	ORPHA:2788
Hawkinsinuria	Microcephaly, Sparse hair, Failure to thrive, Hypertyrosinemia	OMIM:140350
Pontocerebellar Hypoplasia, Type 7	Hypopigmentation of the skin, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the brainst...	OMIM:614969
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Failure...	ORPHA:247598
Angelman Syndrome	Cerebral cortical atrophy, Broad-based gait, Hypopigmentation of the skin, Fair hair, Secondary m...	OMIM:105830
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Microcephaly 10, Primary, Autosomal Recessive	Cataract, Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, De...	OMIM:615095
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Small nail, Fine hair, Hypogonadism, Trichorrhexis nodosa, Tiger tail band...	OMIM:601675
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Alg12-Cdg	Hypoalbuminemia, Small nail, Failure to thrive, Hypocholesterolemia, Hypoplasia of the corpus cal...	ORPHA:79324
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Decreased fer...	ORPHA:95699
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypopigmentation of the skin, Cerebral atrophy, Hypoplasia of...	OMIM:251300
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Leukodystrophy, Hypomyelinating, 17	Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum, Hirsutism, Microcephaly	OMIM:618006
Leukodystrophy, Hypomyelinating, 24	Cataract, Cerebral atrophy, Leukodystrophy, Microcephaly, Hypothyroidism, Thin corpus callosum	OMIM:619851
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting t...	ORPHA:83461
Ermine Phenotype	Iris hypopigmentation, Toe syndactyly, Irregular hyperpigmentation, Hypopigmented skin patches, O...	ORPHA:999
Cystinosis, Nephropathic	Cerebral calcification, Hematuria, Male infertility, Aminoaciduria, Generalized aminoaciduria, Ma...	OMIM:219800
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Pigmentary retinopathy, Hypocholesterolemia, Abetalipoproteinemia, Elev...	ORPHA:96180
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Microcornea, Failure to thrive, Hypocholesterolemia, Astigmatism, Hypoplasia of t...	OMIM:244450
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Abnormality of the nail, Sparse eyebrow, Coarse hair, Epiphyseal stippling...	ORPHA:35173
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Cerebral hypomyelination, Confluent hyperintensity of cerebral white matter on...	ORPHA:280210
Lissencephaly Due To Tuba1A Mutation	Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c...	ORPHA:171680
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Trichothiodystrophy 3, Photosensitive	Cataract, Failure to thrive, Trichorrhexis nodosa, Tiger tail banding, Delayed CNS myelination, D...	OMIM:616395
Frontonasal Dysplasia 1	Cataract, Radial deviation of finger, Clinodactyly, Microphthalmia, Brachydactyly, Postaxial hand...	OMIM:136760
Juvenile Amyotrophic Lateral Sclerosis	Microcephaly, Cachexia, CNS hypomyelination	ORPHA:300605
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Seizure, Microphthalmia	OMIM:613730
Porphyria Variegata	Chronic kidney disease, Hypopigmentation of the skin, Somatic sensory dysfunction, Increased urin...	ORPHA:79473
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral cortical atrophy, Sparse eyebrow, Secondary microcephaly, Hypoplasia of the corpus callo...	ORPHA:496641
Moebius Syndrome	Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Decreased testi...	OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Type II lissencephaly, Elevated circulating creatine kinase con...	OMIM:615249
Leukodystrophy, Childhood-Onset, Remitting	Abnormal cerebral white matter morphology, Leukodystrophy	OMIM:619864
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren...	ORPHA:90791
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, 11 pa...	OMIM:300863
Leukodystrophy, Hypomyelinating, 12	Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral hypomyelination...	OMIM:616683
Adams-Oliver Syndrome 2	Alopecia, Small nail, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Low anterio...	OMIM:614219
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Seizure, Microphthalmia	OMIM:614583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, CNS hypomyelination, Cerebral atrophy, Elevated circulating creatine kinase concentrati...	OMIM:615356
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Menkes Disease	Short stature, Microcephaly, Intrauterine growth retardation, Hypopigmentation of the skin	OMIM:309400
Retinal Dystrophy With Leukodystrophy	Progressive microcephaly, CNS hypomyelination	OMIM:618863
Combined Saposin Deficiency	Abnormal periventricular white matter morphology, CNS demyelination, Hypoplasia of the corpus cal...	OMIM:611721
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria...	ORPHA:2715
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Microcephaly...	OMIM:608747
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cerebral calcification, Focal white matter lesions, Microcephaly, Abnormal C...	OMIM:612951
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria, Cataract, Abnormal hair morphology, Hyperornithinemia, Subcapsular cataract	ORPHA:414
Multiple Mitochondrial Dysfunctions Syndrome 3	Cerebral atrophy, Leukodystrophy, Polymicrogyria, Hyperglycinemia, Hypoplasia of the corpus callo...	OMIM:615330
Warburg Micro Syndrome 3	Cataract, Microcornea, Cerebral cortical atrophy, Hypertrichosis, Secondary microcephaly, Polymic...	OMIM:614222
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Leukodystrophy, Slender build, Increased serum est...	ORPHA:3455
Dworschak-Punetha Neurodevelopmental Syndrome	Optic disc hypoplasia, Sparse lateral eyebrow, Agenesis of corpus callosum, Dysplastic corpus cal...	OMIM:619955
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypoplasia of the fovea, White eyebr...	ORPHA:352731
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Diffuse white matter abnormalities, Abnormality iris morphology, Megalocornea, Type II ...	ORPHA:370959
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, White hair, Ocular albinism, Abnormal renal tubule morphology, Aplasia/Hyp...	ORPHA:2720
Peroxisome Biogenesis Disorder 8B	Cataract, Failure to thrive, Leukodystrophy, Elevated circulating phytanic acid concentration, Pe...	OMIM:614877
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Cryptorchidism, Abnormal sperma...	ORPHA:261529
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Failure to thrive, Hypertrichosis, Polymicrogyria, Abnormality of skin pigmentation, Mi...	OMIM:612379
Brittle Cornea Syndrome 1	Congenital hip dislocation, Keratoconus, Abnormal cornea morphology, Decreased corneal thickness,...	OMIM:229200
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:607765
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Agenesis of corpus callosum, Microphthalmia, Thick corpus ...	OMIM:218340
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia	OMIM:201910
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplas...	ORPHA:2611
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Neurodegeneration With Brain Iron Accumulation 7	Increased circulating very long-chain fatty acid concentration, Hypoplasia of the corpus callosum...	OMIM:617916
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre...	ORPHA:403
Tyrosinemia, Type Ii	Elevated urine N-acetyltyrosine level, Herpetiform corneal ulceration, Hypertyrosinemia	OMIM:276600
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Anophthalmia, 2-3 to...	OMIM:615877
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cataract, Cerebral cortical atrophy, Small for gestational age, CNS hypomyelination, Decreased re...	ORPHA:268261
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Cavum septum pellucidum, Decreased body weight, Generalized hypopigmentati...	OMIM:617306
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho...	OMIM:609734
Bresek Syndrome	Alopecia, Decreased testicular size, Cryptorchidism, Postaxial hand polydactyly, Microphthalmia, ...	ORPHA:85284
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Agenesis of corpus callosum, Decreased body weight, Dysplastic corpus callosum, M...	OMIM:614833
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin...	ORPHA:14
Galactosemia I	Aminoaciduria, Increased level of galactitol in red blood cells, Cataract, Failure to thrive, Inc...	OMIM:230400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Leukodystrophy, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus callos...	OMIM:616538
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai...	ORPHA:573
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Short thumb, Genu valgum, Flexion c...	ORPHA:2712
Fucosidosis	CNS hypomyelination, Failure to thrive, Cerebral atrophy, Tortuosity of conjunctival vessels, Thi...	OMIM:230000
Incontinentia Pigmenti	Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea...	OMIM:308300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Seizure, Microphthalmia	OMIM:602501
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe...	ORPHA:189427
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Hypopigmented skin patches	ORPHA:3239
Dpagt1-Cdg	Cerebral cortical atrophy, CNS hypomyelination, Failure to thrive, Hypertrichosis, Astigmatism, H...	ORPHA:86309
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Microphthalmia, Syndromic 12	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Obesity	OMIM:620195
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Astigmatism, Absent septum pellucidum, Dec...	OMIM:609053
Nance-Horan Syndrome	Cataract, Microcornea, Short metacarpal, Microphthalmia	ORPHA:627
Walker-Warburg Syndrome	Cataract, Microcornea, Abnormal cortical gyration, Polymicrogyria, Pachygyria, Abnormal circulati...	ORPHA:899
Trisomy 13	Cataract, Abnormal pelvic girdle bone morphology, Ectrodactyly, Cryptorchidism, Aplasia/Hypoplasi...	ORPHA:3378
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Hypoplasia of the corpus callosum,...	ORPHA:1791
Garg-Mishra Progeroid Syndrome	Thin ribs, Slender long bone, Small nail, Slender metacarpals, Microphthalmia, Sparse hair, Cafe-...	OMIM:620601
Marbach-Rustad Progeroid Syndrome	Microcephaly, CNS hypomyelination, Hyperintensity of cerebral white matter on MRI	OMIM:619322
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Occipital cortical atrophy, Decreased circulating gonadotropin concentrati...	ORPHA:98754
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Small nail, Supernumerary nipple, Cerebral hypomyelination, Shallow anteri...	ORPHA:247262
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Flared metaphysis, Short finger, Ectopia pupillae, Femoral bowing, Microphth...	OMIM:608940
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, CNS hypomyelination	ORPHA:309155
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Abnormal CNS myelination, Microcephaly, Failure to thrive, Hypoplasia of the corpus callosum	ORPHA:477673
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Microcephaly, Corneal opacity, Microphtha...	OMIM:152950
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d...	OMIM:129500
Dubowitz Syndrome	Sparse lateral eyebrow, Megalocornea, Hypoplasia of the iris, Hypocholesterolemia, Microcephaly, ...	OMIM:223370
Angelman Syndrome	Iris hypopigmentation, Cerebral cortical atrophy, Broad-based gait, Hypopigmentation of the skin,...	ORPHA:72
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv...	ORPHA:250972
Martsolf Syndrome 1	Cataract, Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral ...	OMIM:212720
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Warburg Micro Syndrome 4	Cerebral cortical atrophy, Microcornea, Secondary microcephaly, Hypoplasia of the corpus callosum...	OMIM:615663
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Microcephaly, Microphthalmia, Septo-optic dysplasia, Lissencephaly	ORPHA:1528
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia,...	OMIM:610125
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Occipital cortical atrophy, Decreased circulating gonadotropin concentrati...	ORPHA:98793
Oculoskeletodental Syndrome	Abnormality of the frontal hairline, Hypocalcemia, Focal white matter lesions, Dysplastic corpus ...	ORPHA:557003
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Failure to thrive, Agenesis of corpus callosum, Low posterior hairline, Mi...	OMIM:243310
Hypomelanosis Of Ito	Microcephaly, Macular hypopigmented whorls, streaks, and patches, Cerebral atrophy, Macrocephaly	OMIM:300337
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Occipital cortical atrophy, Decreased circulating gonadotropin concentrati...	ORPHA:177904
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Cataract, Small hand, Microcornea, Sparse hair, 2-4 toe...	OMIM:257850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co...	OMIM:618193
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Absent skin pigmentation, Blue...	OMIM:203100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Occipital cortical atrophy, Decreased circulating gonadotropin concentrati...	ORPHA:177901
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Gastrointestinal Defects And Immunodeficiency Syndrome 2	CNS hypomyelination, Leukodystrophy, Polymicrogyria, Hyperintensity of cerebral white matter on M...	OMIM:619708
Griscelli Syndrome Type 2	Iris hypopigmentation, Seizure, Premature graying of hair, Partial albinism, Hypopigmentation of ...	ORPHA:79477
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent...	OMIM:268400
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Bilateral microphthalmos, Conjunctival hyperemia, Abnormal eyelash morp...	ORPHA:2399
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly, Overfriendliness, Hypertriglyceridemia	OMIM:618010
Fanconi Anemia, Complementation Group S	Clinodactyly, Long eyelashes, Ovarian carcinoma, Low anterior hairline, Microphthalmia, Sparse ha...	OMIM:617883
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Hypoplastic spleen, Adducted thumb	ORPHA:89844
Sjogren-Larsson Syndrome	Abnormal hair morphology, Astigmatism, CNS demyelination, Opacification of the corneal epithelium...	OMIM:270200
Tremor, Hereditary Essential, 6	Leukodystrophy	OMIM:618866
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Allan-Herndon-Dudley Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Leukodystrophy, Microcephaly, Del...	OMIM:300523
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Abnormal cerebral white matter morphology, CNS hypomyelination, Small for gestational age, Hypopl...	OMIM:614501
Prader-Willi Syndrome	Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, Hypogonadism, Dec...	ORPHA:739
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Corneal scarring, Abnormality of hair pigmentation, Arachnodactyly...	ORPHA:90354
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia involving the pelvis, Cryptorchidism, Missing ribs, Abn...	ORPHA:3301
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Obesity, Hypoplasia of the corpus callosum	ORPHA:521390
Warburg Micro Syndrome 2	Cataract, Microcornea, Overlapping toe, Cryptorchidism, Low anterior hairline, Clinodactyly of th...	OMIM:614225
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Horseshoe kidney, Hemimegalencephaly, Hyperphosphaturia, Short stat...	OMIM:163200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Secondary microcephaly, CNS hypomyelination, Optic disc hypoplasia, Hypoplasia of the corpus call...	OMIM:619306
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Premature graying of hair, Type II diabetes mellitus, Polycysti...	ORPHA:100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	CNS hypomyelination, Lateral ventricle dilatation, Thick eyebrow, Hypoplasia of the corpus callos...	OMIM:618367
Rere-Related Neurodevelopmental Syndrome	Peters anomaly, Astigmatism, Hypoplasia of the corpus callosum, Broad eyebrow, CNS demyelination,...	ORPHA:494344
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Failure to thrive	ORPHA:71
Bloom Syndrome	Hypopigmentation of the skin, Postnatal growth retardation, Intrauterine growth retardation, Azoo...	OMIM:210900
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp...	ORPHA:85194
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Microcephaly, Dysplastic corpus callosum, Failure to thrive	OMIM:604273
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:77298
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Iris coloboma, Microcornea, Bilateral microphthalmos, C...	ORPHA:2839
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Ectopia pupillae, Astigmati...	OMIM:618727
Micro Syndrome	Cataract, Microcornea, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abno...	ORPHA:2510
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypoplastic iliac wi...	ORPHA:163966
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Microcephaly, Hypothyroidism, Steatorrhe...	OMIM:212065
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Hypoplasi...	OMIM:241410
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Failure to thrive, Dysplastic corpus callosum, Microcephaly, Sparse hair, Simplified gyral pattern	OMIM:620001
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Hypogonadism, Basal ganglia calcification, Microcephaly, Freckl...	OMIM:610651
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, CNS demyelination, Leukodystrophy	OMIM:264470
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Incontinentia Pigmenti	Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab...	ORPHA:464
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism	OMIM:619318
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Linear hyperpigmentation, Hypoplasia of the corpus callosum, Ag...	OMIM:613001
Cousin Syndrome	Hypoplastic scapulae, Microcornea, Hypoplastic iliac wing, Dislocation of the femoral head, Fibul...	OMIM:260660
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Obesity, Periventricular white matter hyperintensities, Dysplastic corpus...	OMIM:619737
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
Ruvalcaba Syndrome	Hypopigmented skin patches, Intrauterine growth retardation, Hematuria, Microcephaly, Delayed pub...	ORPHA:3121
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	CNS hypomyelination	OMIM:618527
Joubert Syndrome 22	2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly	OMIM:615665
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Cryptorch...	ORPHA:251014
Seckel Syndrome 2	Few cafe-au-lait spots, Basal ganglia calcification, Microcephaly, Primary microcephaly, Micropht...	OMIM:606744
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Highly arched eyebrow, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matt...	OMIM:616900
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Conjunctival hyperemia, Microphthalmia, Clinodactyly of the 5th finger, Widow's peak	OMIM:167730
Adams-Oliver Syndrome	Short distal phalanx of finger, Cataract, Alopecia, Finger syndactyly, Hypoplastic fingernail, Ab...	ORPHA:974
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Cataract, Abnormal femoral neck/head morphology, Flattened epiphysis, Microphthal...	ORPHA:163649
Aromatase Deficiency	Delayed epiphyseal ossification, Female infertility, Male infertility, Genu valgum, Type II diabe...	ORPHA:91
Methionine Adenosyltransferase I/Iii Deficiency	Hypermethioninemia, Peripheral demyelination, CNS demyelination	OMIM:250850
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia, Short phalanx ...	OMIM:302350
Carney Complex, Type 1	Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h...	OMIM:160980
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Hengel-Maroofian-Schols Syndrome	Cerebral atrophy, Thick eyebrow, Microcephaly, Abnormal CNS myelination, Thin corpus callosum, Sy...	OMIM:619641
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hyperphosphatemia, Cerebral calcification, Hypocalcemia, Hypoparathyroidism, Hypocalcem...	OMIM:146200
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu...	ORPHA:91495
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Spotty hyperpigmentation	ORPHA:79133
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Secondary microcephaly, Dysplastic corpus callosum, Primary microceph...	ORPHA:357058
Gaba-Transaminase Deficiency	Leukodystrophy, Agenesis of corpus callosum	OMIM:613163
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Long eyelashes, Cryptor...	ORPHA:193
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Pulverulent cataract, Developmental cataract, Microphthalmia	OMIM:193220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Ring Chromosome 10 Syndrome	Seizure, Microphthalmia	ORPHA:1438
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum...	OMIM:619172
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Cerebral atrophy, Cavum septum pellucidum, Hypoplasia of the corpus callos...	OMIM:616449
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypogonadism, Impaired temperature sensation, Cognitive impairment,...	ORPHA:398069
Subaortic Stenosis-Short Stature Syndrome	Obesity, Type II diabetes mellitus, Abnormal circulating lipid concentration, Microphthalmia	ORPHA:3191
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Leukodystrophy, Polymicrogyria, Hypoplasia of the corpus callosum, Elevated circulating...	ORPHA:370997
Neurooculocardiogenitourinary Syndrome	Seizure, Microphthalmia	OMIM:618652
Pelizaeus-Merzbacher Disease, Classic Form	Cerebral hypomyelination, Confluent hyperintensity of cerebral white matter on MRI	ORPHA:280219
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Failure to thrive, Elevated 8(9)-cholestenol, Sparse eyelashes, Patchy ...	OMIM:302960
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Mitochondrial Complex I Deficiency, Nuclear Type 15	CNS demyelination, Failure to thrive	OMIM:618237
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal cornea morphology, Preaxial foot polydac...	ORPHA:65759
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Hereditary Bullous Dystrophy, Macular Type	Spotty hypopigmentation, Microcephaly, Hyperpigmentation of the skin, Short stature, Growth delay	ORPHA:1867
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating...	OMIM:612462
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Abnormal corpus callosum morphology, Hypopigmented skin patches, Polymicrogyria, Gait disturbance...	ORPHA:457485
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Failure to thrive, Leukodystrophy, Cerebral atrophy, Thick eyebrow, Hyperammonemia, Hyp...	OMIM:615471
Leukodystrophy, Hypomyelinating, 16	Hypoplasia of the corpus callosum, Delayed CNS myelination, Failure to thrive, Leukodystrophy	OMIM:617964
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Abnormality of the s...	ORPHA:335
Infantile Krabbe Disease	Hyperesthesia, Mental deterioration, Hypopigmented skin patches, Abnormal periventricular white m...	ORPHA:206436
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Cryptorchidism, A...	OMIM:609945
Muenke Syndrome	Cone-shaped epiphysis, Hypopigmented skin patches, Hypermelanotic macule, Carpal synostosis, Hypo...	ORPHA:53271
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Hypopigmentation of the skin, Methioninuria	OMIM:236200
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Microcephaly, Increased serum pyruvate, Leukodystrophy, Hyperintensity of cerebral white matter o...	OMIM:619224
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Microphthalmia, Sparse hair	OMIM:619185
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair, Hypogonadism, Cryptorchidism, Microphthalmia	ORPHA:228390
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Chromosome 17Q12 Duplication Syndrome	Seizure, Microphthalmia	OMIM:614526
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Leukodystrophy	OMIM:614932
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis, Slender lon...	ORPHA:96181
Sandhoff Disease	CNS hypomyelination	OMIM:268800
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Leukodystrophy, Hypomyelinating, 3	Failure to thrive, Leukodystrophy, Sudanophilic leukodystrophy, Diffuse cerebral sclerosis, Micro...	OMIM:260600
Harrod Syndrome	Cerebral cortical atrophy, Multicystic kidney dysplasia, Hypopigmented skin patches, Intrauterine...	ORPHA:2115
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Frontorhiny	Cataract, Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Brachydactyly, Microphth...	ORPHA:391474
Monosomy 18P	Alopecia, Low posterior hairline, Hypothyroidism, Brachydactyly, Microphthalmia	ORPHA:1598
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Microphthalmia, Ma...	OMIM:612109
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia	ORPHA:2117
Spinocerebellar Ataxia 23	CNS demyelination, Agenesis of corpus callosum	OMIM:610245
Refsum Disease	Cataract, Abnormal epiphysis morphology, Abnormality of retinal pigmentation, Nail dysplasia, Mic...	ORPHA:773
Kapur-Toriello Syndrome	Failure to thrive, Polymicrogyria, Dysplastic corpus callosum, Microphthalmia, Pachygyria, Iris c...	ORPHA:2328
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, Microphthalmia, Cryp...	ORPHA:284160
Tangier Disease	Hypocholesterolemia, Corneal opacity, Nail dystrophy, Hypertriglyceridemia	ORPHA:31150
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Simplified gyral pattern	OMIM:618328
Leigh Syndrome, Nuclear	Pigmentary retinopathy, Failure to thrive, Hypertrichosis, CNS demyelination, Focal substantia ni...	OMIM:256000
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypogonadism, Impaired temperature sensation, Hypogonadotropic hypo...	ORPHA:398079
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Hyperpigmented streaks, Failure to thrive, Lateral ventricle dilatati...	OMIM:300952
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Microphthalmia, Postaxial hand polydactyly,...	OMIM:611561
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Cataract, Failure to thrive, Decreased pineal volume	OMIM:301108
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Cerebral cortical atrophy, Hypopigmentation of the skin, Intrauterine grow...	ORPHA:177907
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Missing ribs, Supernumerary ribs, Ri...	OMIM:206900
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Ovarian ...	ORPHA:2221
Canavan Disease	Increased circulating N-acetylaspartic acid concentration, Microcephaly, CNS demyelination, Eleva...	OMIM:271900
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly	OMIM:613885
Alg8-Cdg	Leukoencephalopathy, Cataract, Cerebral cortical atrophy, Failure to thrive, Leukodystrophy, Hypo...	ORPHA:79325
Xeroderma Pigmentosum	Aminoaciduria, Cerebral cortical atrophy, Hypopigmented skin patches, Hypogonadism, Melanocytic n...	ORPHA:910
Kapur-Toriello Syndrome	Cataract, Short thumb, Camptodactyly of finger, Overlapping fingers, Cryptorchidism, Clinodactyly...	OMIM:244300
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin	OMIM:601957
Bloom Syndrome	Hypopigmentation of the skin, Recurrent urinary tract infections, Intrauterine growth retardation...	ORPHA:125
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Gait dist...	OMIM:214500
Focal Dermal Hypoplasia	Alopecia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiph...	ORPHA:2092
Pyruvate Carboxylase Deficiency	Leukodystrophy, Periventricular leukomalacia, Neuronal loss in the cerebral cortex, Hyperalaninem...	OMIM:266150
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Crypto...	OMIM:619135
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W...	OMIM:613266
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Lateral ventricle dilatation, Periventricular cysts, Large ...	ORPHA:544488
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Horizontal eyebrow, Clinodactyly, Bilateral microphthalmos, Frontal upsweep of hair, Cryptorchidi...	ORPHA:369891
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia, Sclerocorne...	ORPHA:251038
Mitochondrial Complex I Deficiency, Nuclear Type 5	Leukoencephalopathy, Failure to thrive, Leukodystrophy, Focal T2 hyperintense basal ganglia lesio...	OMIM:618226
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Sparse hair, Slender long bone, Elevated circulating t...	OMIM:601812
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Bilateral microphthalmos, Abnormal hair morphology, Hyperpi...	OMIM:607597
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger	ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Polymicrogyria, Type II lissencephaly, Hypoplasia of the corpus callosu...	OMIM:614643
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum, Delayed CNS myelination, Thi...	OMIM:620269
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Cryptorchidism, Microphthalmia, Hip dislocation, Synd...	OMIM:146510
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Failure to thrive, Abnormal circulating carnitine ...	ORPHA:431361
Hallermann-Streiff Syndrome	Sparse hair, Rib exostoses, Small hand, Alopecia, Sparse eyebrow, Sparse body hair, Cryptorchidis...	ORPHA:2108
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Aicardi-Goutieres Syndrome 5	Leukoencephalopathy, Leukodystrophy, Intracerebral periventricular calcifications, Basal ganglia ...	OMIM:612952
Oculotrichoanal Syndrome	Abnormal hair pattern, Anophthalmia, Microphthalmia	ORPHA:2717
Microphthalmia, Lenz Type	Cataract, Microcornea, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, ...	ORPHA:568
Cockayne Syndrome B	Pigmentary retinopathy, Dry hair, Microcornea, Failure to thrive, Cerebral atrophy, Hypoplasia of...	OMIM:133540
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Leukoencephalopathy, Corpus callosum atrophy, CNS demyelination, Abnormal cerebral white matter m...	OMIM:221820
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Type II lissencephaly, Elevated circulating creatine kinase concentrati...	OMIM:613150
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Apla...	ORPHA:959
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Joint contracture of the 5th finger, Joint contracture of the 4th finger, 2-3 toe syn...	OMIM:618914
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal cerebral morphology, Hypopigmentation of hair, Focal T2 hyperintense basal ganglia lesio...	ORPHA:70472
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches, Vesicoureteral reflux, Agenesis of corp...	ORPHA:96061
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Lo...	ORPHA:404440
Traboulsi Syndrome	Cataract, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Microphthalmia, Iris atrophy,...	OMIM:601552
Familial Isolated Hypoparathyroidism	Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Cerebral calci...	ORPHA:2238
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Irregular hyperpigmentation, Cryptorchidism, Generalized hirsutism, Microphthalmia	ORPHA:2505
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Cataract, Failure to thrive, Cerebral atrophy, Delayed CNS myelination, Hypertyros...	OMIM:124000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Sparse eyebrow, High anterior hairline, Seizure, Supernumerary nipple, Thick eyebrow, Microphthal...	OMIM:620098
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Somatic sensory dysfunction, Spotty hyperpig...	ORPHA:167
Leigh Syndrome	Diffuse spongiform leukoencephalopathy, Generalized aminoaciduria, Alopecia, Cataract, Neuronal l...	ORPHA:506
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Type II lissencephaly, Polymicrogyria, Pachygyria, Hypopl...	OMIM:236670
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Trichothiodystrophy	Brittle hair, Split nail, Cerebral dysmyelination, Microcornea, Bilateral microphthalmos, Ridged ...	ORPHA:33364
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ...	ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 12	Leukoencephalopathy, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus cal...	OMIM:614924
Braddock-Carey Syndrome 2	Clinodactyly, Microphthalmia	OMIM:619981
Mend Syndrome	Cataract, Failure to thrive, Elevated 8(9)-cholestenol, Hypoplasia of the corpus callosum, Spotty...	ORPHA:401973
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Decreased body...	OMIM:620371
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia	ORPHA:369929
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Focal Facial Dermal Dysplasia Type Iii	Abnormality of the upper urinary tract, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:1807
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Mosaic Trisomy 1	Hypoplastic thumbnail, Toe syndactyly, Small nail, Broad 2nd toe, Finger clinodactyly, Camptodact...	ORPHA:1692
Curry-Jones Syndrome	High anterior hairline, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot...	OMIM:601707
Stevenson-Carey Syndrome	Seizure, Microphthalmia	OMIM:611961
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Cockayne Syndrome	Lentiglobus, Dry hair, Absence of pubertal development, Basal ganglia calcification, Cerebral cal...	ORPHA:191
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Seizure, Unilateral microphthalmos, Alopecia of scalp, Sparse eyelashes, Cafe-au-...	OMIM:618874
Mitochondrial Complex I Deficiency, Nuclear Type 21	Leukoencephalopathy, Leukodystrophy	OMIM:618242
Hermansky-Pudlak Syndrome	Menometrorrhagia, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial a...	ORPHA:79430
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Small nail, Hypoplastic iliac wing, Alopecia totalis, Absent eyelashes, Abs...	OMIM:263650
Prader-Willi Syndrome	Impaired pain sensation, Intrauterine growth retardation, Hyperinsulinemia, Hypogonadotropic hypo...	OMIM:176270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Elevated circulatin...	OMIM:253800
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the f...	OMIM:614077
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Frontotemporal cerebral atrophy, CNS hypomyelination, Failure to thrive, Lateral...	OMIM:619534
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Generalized reticulate brown pigmentation, Hypopigmentation of the...	ORPHA:69087
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Penile freckling, Mixed hypo- and hyperpigmentation of...	ORPHA:79145
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe, Sparse lateral eyebrow, Failure to thrive, Hypoplasia of the...	ORPHA:513456
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Stage 5 chronic kidney disease, Increased urinary porphobilinogen, ...	ORPHA:101330
Oculodentodigital Dysplasia	Sparse hair, Cataract, Microcornea, Dry hair, Clinodactyly, Fine hair, 3-4 toe syndactyly, Joint ...	OMIM:164200
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Abnormal thumb morphology, Cryptorchidism, Arac...	ORPHA:2719
Hermansky-Pudlak Syndrome 6	Albinism, Hypopigmentation of the skin, Recurrent urinary tract infections, Ocular albinism, Part...	OMIM:614075
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Cholelithiasis, Microcornea, Sparse eyebrow, Finger syndactyly, Clin...	ORPHA:464738
Aicardi-Goutieres Syndrome 6	Microcephaly, Cerebral calcification, Leukodystrophy	OMIM:615010
Microphthalmia/Coloboma 12	Optic nerve aplasia, Peters anomaly, Microphthalmia, Corneal opacity	OMIM:120200
Vici Syndrome	Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Ocular albinism, Postnatal growth ret...	OMIM:242840
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Overlapping toe, Overlapping fingers, Cryptorchidism, Hip dysplasia, Mi...	OMIM:618494
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Precocious puberty, Cataract, Failure to thrive, Hypocholesterolemia, Elevated c...	OMIM:270400
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot, Periventricular white matter hyperintensities	OMIM:619719
Acrofrontofacionasal Dysostosis	Cerebral cortical atrophy, Hypopigmented skin patches, Short stature, Brushfield spots, Hypospadias	ORPHA:1784
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Abnormality of the hairline, Hyperbilirubinemia, Decreased body weight, Microce...	OMIM:614886
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of t...	ORPHA:2524
Cushing Disease	Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co...	ORPHA:96253
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Micropht...	ORPHA:1352
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Seizure, Melanocytic nevus, Microphthalmia	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Small nail, Long eyelashes, Widow's peak, Acetabular...	OMIM:201180
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Bilateral microphthalmos, Steep ac...	OMIM:610758
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Leukodystrophy	OMIM:618225
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Intellectual Developmental Disorder, Autosomal Recessive 78	Microcephaly, Hypopigmentation of the skin	OMIM:620237
Meckel Syndrome, Type 2	Polydactyly, Bowing of the long bones, Microphthalmia, Postaxial hand polydactyly, Bile duct prol...	OMIM:603194
Microcephaly 26, Primary, Autosomal Dominant	Prominent eyelashes, Failure to thrive, Hypoplasia of the corpus callosum, Dysplastic corpus call...	OMIM:619179
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Crouzon Syndrome	Cerebellar hypoplasia, Melanocytic nevus, Hypopigmented skin patches	ORPHA:207
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Male infertility, Cryptorchidism, Abnormality of skin pigmentation, Ab...	OMIM:227650
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Horizontal eyebrow, Overlapping toe, Astigmatism, Microphthalmia	OMIM:618571
Frontal Encephalocele	Cerebral calcification, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum	ORPHA:1931
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Male hypogonadism, Type I diabetes mellitus, Alopecia, Pigmentary retinopat...	OMIM:240300
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom...	OMIM:168000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Failure to thrive, Thin eyebrow, Delayed peripheral myelination, Microcephaly, Cornea...	ORPHA:364577
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Abnormal periventricular white matter morphology, CNS demyelination	OMIM:249900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Horseshoe kidney, Hypointensity of cerebral white matter on MRI, Spotty hypopigmentation, Macroce...	OMIM:300860
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Basal ganglia calcification, Microphthalmia, Hypocalcemia, Developmental catar...	OMIM:127000
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Lens luxation, Cataract	OMIM:120330
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Hypophosphatemia, Microphthalmia, Aminoaciduria, Cataract, Abnormal pupil morphology...	ORPHA:534
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Preaxial polydactyly, Microphthalmia, Sclerocornea, Iris c...	OMIM:243605
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, Splayed toes, P...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, Splayed toes, P...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, Splayed toes, P...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, Splayed toes, P...	ORPHA:881
Mirage Syndrome	Radial club hand, Lymphopenia, Leukopenia, Overlapping fingers, Thrombocytopenia, Anemia, Rocker ...	OMIM:617053
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ataxia, Broad-based gait, Hypopigmentation of the skin, Falls, Tip-toe gait, Intrauterine growth ...	OMIM:619475
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Horizontal ribs, Cryptorch...	OMIM:616300
Focal Dermal Hypoplasia	Toe syndactyly, Supernumerary nipple, Absent toenail, Cryptorchidism, Anophthalmia, Brittle hair,...	OMIM:305600
Tyrosinemia, Type Iii	Hypertyrosinemia	OMIM:276710
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:617914
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Failure to t...	ORPHA:411629
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Clubbing, Male infertility	ORPHA:244
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Fair hair, Recurrent urinary tract infections, Postnatal growth ret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Fair hair, Recurrent urinary tract infections, Postnatal growth ret...	ORPHA:363958
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Supernumerary ribs, H...	OMIM:193500
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Duane-Radial Ray Syndrome	Cataract, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly, Opti...	OMIM:607323
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Premature gray...	ORPHA:769
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination	OMIM:611555
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Small nail, Seizure, Supernumerary nipple, Microphthalmia	OMIM:612530
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral hypomyelination, Primary micr...	ORPHA:447997
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph...	OMIM:605373
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Failure to thrive in infancy, Hypoplasia...	ORPHA:488627
Mucolipidosis Ii Alpha/Beta	Cerebral cortical atrophy, Hypopigmentation of the skin, Tip-toe gait, Severe postnatal growth re...	OMIM:252500
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin	ORPHA:35125
Roberts Syndrome	Cataract, Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, ...	ORPHA:3103
Basal Cell Nevus Syndrome 1	Cataract, Short distal phalanx of the thumb, Ovarian carcinoma, Short ribs, Supernumerary ribs, P...	OMIM:109400
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Basal ganglia calcificat...	ORPHA:90324
Tetraamelia Syndrome 1	Cataract, Hypoplastic pelvis, Adrenal gland agenesis, Microphthalmia	OMIM:273395
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Cerebral calcification, Progressive microcephaly, Leukodystrophy	OMIM:610333
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Hypopigmented skin patches, Intrauterine growth retardation, Hypo...	ORPHA:2637
Trisomy 18	Cataract, Microcornea, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology...	ORPHA:3380
Krabbe Disease	Diffuse cerebral atrophy, Peripheral demyelination, CNS demyelination, Failure to thrive	OMIM:245200
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Hallermann-Streiff Syndrome	Thin ribs, Cataract, Sparse eyebrow, Slender long bone, Fine hair, Cryptorchidism, Sparse eyelash...	OMIM:234100
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Gapo Syndrome	Hypopigmented skin patches, Hypogonadism, Dysmenorrhea, Nephrolithiasis, Amenorrhea, Oligozoosper...	ORPHA:2067
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Delayed CNS myelination, Micro...	OMIM:616920
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Cryptorchidism, Hyperpigmentation of the skin, Absent radius, Micropht...	OMIM:600901
1Q21.1 Microdeletion Syndrome	Cataract, Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Cryptorchidism, Hand polyd...	ORPHA:250989
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con...	OMIM:617156
Oculo-Palato-Cerebral Syndrome	Aplasia/Hypoplasia of the nails, Cataract, Small hand, Leukocoria, Microphthalmia, Short foot	ORPHA:2714
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Periventricular cyst...	OMIM:309000
Hepatoerythropoietic Porphyria	Red-brown urine, Hypopigmentation of the skin, Purple urine, Paresthesia, Red urine, Hyperpigment...	ORPHA:95159
Steinfeld Syndrome	Absent gallbladder, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypo...	OMIM:184705
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Delayed CNS myelination, CNS demyelination, Thin corpus ...	OMIM:619653
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microcornea, Long fingers, Microphthalmia	OMIM:156610
Pitt-Hopkins Syndrome	Small cerebral cortex, Hypopigmented skin patches, Aplasia/Hypoplasia of the corpus callosum, Pos...	ORPHA:2896
3Q29 Microdeletion Syndrome	Cataract, Failure to thrive, Microcephaly, Abnormality of skin pigmentation, Microphthalmia	ORPHA:65286
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Polymicrogyria, Aniridia, Cor...	OMIM:106210
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia, Postaxial hand polydactyly	ORPHA:2189
Lichen Planus Pemphigoides	Hypopigmented streaks	ORPHA:254478
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Panc...	ORPHA:99889
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypopigmented skin patches	ORPHA:1295
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Mongolian blue spot, Hypoplasia of the corpus callosum, Low anterior hairline, Dysplast...	OMIM:618569
Teebi-Shaltout Syndrome	Sparse hair, Highly arched eyebrow, Caudal appendage, Microphthalmia, Low anterior hairline, Meta...	OMIM:272950
Porphyria, Congenital Erythropoietic	Hypopigmentation of the skin, Red urine, Hyperpigmentation of the skin, Pink urine, Short stature	OMIM:263700
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Decreased response to growth hormone stimulation test, Cryptorchidism,...	OMIM:603467
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Cataract, Toenail dysplasia, Abnormal fingernai...	ORPHA:79500
Manitoba Oculotrichoanal Syndrome	Abnormality of the hairline, Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Autoimmune Polyendocrinopathy Type 2	Hypogonadism, Hypopigmented skin patches	ORPHA:3143
Trichohepatoenteric Syndrome 1	Galactosuria, Intrauterine growth retardation, Cognitive impairment, Generalized hypopigmentation...	OMIM:222470
Myhre Syndrome	Cataract, Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of finge...	OMIM:139210
Mosaic Trisomy 9	Small nail, Finger clinodactyly, Camptodactyly of finger, Cryptorchidism, Supernumerary ribs, Cor...	ORPHA:99776
Phace Syndrome	Cataract, Optic nerve hypoplasia, Agenesis of corpus callosum, Heterochromia iridis, Microcephaly...	ORPHA:42775
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Hypogonadism, Attention deficit hyperactivity disorder, Hyperpigmen...	ORPHA:221008
Neurofibromatosis Type 1	Inguinal freckling, Memory impairment, Axillary freckling, Hypopigmented skin patches, Macrocepha...	ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Absent septum pellucidum, Agenesis of corpus ca...	OMIM:309801
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hypopigmented skin patches, Cry...	ORPHA:84
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Gait dis...	ORPHA:183
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Hyperalaninemia, CNS demyelination, Cerebral edema, Abnormal basal ganglia MRI...	OMIM:620646
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Oligodactyly, Humeroradial synostosis, Missing ribs, Absent radius, Mi...	OMIM:251230
Koolen-De Vries Syndrome	Cataract, Aplasia/Hypoplasia of the corpus callosum, Overfriendliness, Microcephaly, Hypothyroidi...	ORPHA:96169
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Hypoplasia of the corpus callosum, Sparse eyelashes,...	OMIM:613451
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Generalized reticulate brown pigmentation, Hyperpigmentation of the...	ORPHA:79396
Meckel Syndrome, Type 4	Bowing of the long bones, Microphthalmia, Bile duct proliferation, Postaxial hand polydactyly	OMIM:611134
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:626
Jacobsen Syndrome	Microcornea, Annular pancreas, Cryptorchidism, Missing ribs, Macular hypoplasia, Brachydactyly, A...	OMIM:147791
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Aicardi Syndrome	Precocious puberty, Small hand, Sparse lateral eyebrow, Microphthalmia, Abnormality of retinal pi...	ORPHA:50
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcep...	OMIM:617729
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Cryptorchidism, Sparse eyelashes, Aplasia of the dis...	ORPHA:3472
Hermansky-Pudlak Syndrome 2	Fair hair, Ocular albinism, Aberrant melanosome maturation, Microcephaly, Generalized hypopigment...	OMIM:608233
Childhood-Onset Spasticity With Hyperglycinemia	Nonketotic hyperglycinemia, Leukodystrophy	ORPHA:401866
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Aicardi Syndrome	Precocious puberty, Cataract, Sparse lateral eyebrow, Lateral ventricle dilatation, Polymicrogyri...	OMIM:304050
Combined Oxidative Phosphorylation Deficiency 4	Microcephaly, Hyperammonemia, Leukodystrophy, Polymicrogyria	OMIM:610678
Ohdo Syndrome, X-Linked	Sparse eyebrow, High anterior hairline, Short thumb, Clinodactyly, Overlapping toe, Long thumb, C...	OMIM:300895
Peroxisome Biogenesis Disorder 6B	Abnormal cerebral white matter morphology, Elevated circulating phytanic acid concentration, Dela...	OMIM:614871
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Leukodystrophy, Secondary microcephaly, Abnormal periventricular white matter ...	OMIM:616881
Cowden Syndrome	Abnormal penis morphology, Ataxia, Hypopigmented skin patches, Macrocephaly, Melanocytic nevus, M...	ORPHA:201
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Prea...	ORPHA:233
Lymphedema-Distichiasis Syndrome	Yellow nails, Recurrent corneal erosions, Distichiasis, Microphthalmia, Conjunctivitis, Corneal u...	OMIM:153400
Aicardi-Goutieres Syndrome 1	Leukoencephalopathy, Cerebral atrophy, Intracerebral periventricular calcifications, Basal gangli...	OMIM:225750
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Leukodystrophy, Progressive, Early Childhood-Onset	Hypoplasia of the corpus callosum, Thick eyebrow, Cerebral atrophy, Leukodystrophy	OMIM:617762
Orofaciodigital Syndrome Xiv	CNS hypomyelination, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Partial age...	OMIM:615948
Mismatch Repair Cancer Syndrome 1	Axillary freckling, Hypopigmentation of the skin, Multiple cafe-au-lait spots, Agenesis of corpus...	OMIM:276300
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, Cryptorchidism, 2-3 toe syndactyly, Adrenal hypopla...	OMIM:264480
Neuroblastoma	Elevated circulating catecholamine level, Weight loss, Increased circulating ferritin concentration	ORPHA:635
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized ...	ORPHA:1969
Schilder Disease	Hyperintensity of cerebral white matter on MRI, CNS demyelination	ORPHA:59298
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Overlapping toe, Distally placed thumb, Cryptorchidism, Cutaneous syndactyly, Microp...	OMIM:619148
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Primary adrenal insufficiency, Abnormal periventricular white matter morpholog...	ORPHA:139396
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Sparse lateral eyebrow, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Partial a...	OMIM:619103
Familial Exudative Vitreoretinopathy	Cataract, Microcephaly, Microphthalmia	ORPHA:891
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Absent gallbladder, Horizontal ribs, Fibular hypoplasia, Short...	OMIM:617925
Marden-Walker Syndrome	Seizure, Microphthalmia	OMIM:248700
Matthew-Wood Syndrome	Annular pancreas, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasia/Hypoplasia of the pancreas	ORPHA:2470
Oculopalatocerebral Syndrome	Leukocoria, Microphthalmia	OMIM:257910
Neuroocular Syndrome 1	Small nail, Hypoplasia of the fovea, Brittle hair, Microphthalmia, Lens coloboma, Brushfield spot...	OMIM:619539
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Hydrolethalus Syndrome 1	Upper limb undergrowth, Preaxial hand polydactyly, Adrenal gland dysgenesis, Duplication of phala...	OMIM:236680
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Hyperammonemia, Leukodystrophy	OMIM:619051
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Cerebral atrophy, White forelock, Distal sensory impairment, Heteroch...	OMIM:609136
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Microcephaly, D...	OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Broad thumb, Supernumerary nipple, Camptodactyly of finger, Microphthalmia, Iris coloboma, Tapere...	ORPHA:1236
Juvenile Nephropathic Cystinosis	Aminoaciduria, Hypouricemia, Abnormal cornea morphology, Corneal crystals, Failure to thrive, Ele...	ORPHA:411634
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Cerebellar...	ORPHA:1647
Fetal Alcohol Syndrome	Generalized hirsutism, Microphthalmia	ORPHA:1915
Congenital Erythropoietic Porphyria	Red-brown urine, Hypopigmentation of the skin, Purple urine, Paresthesia, Increased urinary porph...	ORPHA:79277
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, Cryptorchidism, Anophthalmia, Microphthalmia, Iris coloboma	ORPHA:2250
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia o...	ORPHA:3186
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Cryptorchidism, Hyperpigmentation of the skin, Absent radius, Micropht...	OMIM:227645
Meckel Syndrome	Cataract, Microcornea, Postaxial foot polydactyly, Preaxial hand polydactyly, Microphthalmia, Cry...	ORPHA:564
Holoprosencephaly	Highly arched eyebrow, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Failure to thriv...	ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Short attention span, Macrocephaly	OMIM:301066
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Hypopigmentation of the skin, Bilateral renal dysplasia...	OMIM:619488
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Leukodystrophy	OMIM:618688
Tyrosinemia, Type I	Hypermethioninemia, Failure to thrive, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasi...	OMIM:276700
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Failure to thrive, Microphthalmia, Abnormality of retinal pigmentatio...	ORPHA:2556
Phace Association	Congenital hypothyroidism, Lingual thyroid, Developmental cataract, Microphthalmia, Optic nerve h...	OMIM:606519
Leukodystrophy, Hypomyelinating, 9	Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Leukodystrophy	OMIM:616140
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Microphthalmia	OMIM:617244
Rothmund-Thomson Syndrome, Type 3	Severe short stature, Spotty hyperpigmentation, Hypoplasia of the corpus callosum, Spotty hypopig...	OMIM:615789
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intrauterine growth retardation, Microcephaly, Hypoplasia of the ovary, General...	OMIM:619321
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Cataract, Band keratopathy, Primary adrenal insufficiency, Type II diabetes me...	OMIM:269200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Hypertrichosis, Overlappi...	ORPHA:508498
X-Linked Agammaglobulinemia	Short stature, Hypopigmented skin patches	ORPHA:47
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Ectopic pancreatic tissue, Short thumb, Prominent fing...	OMIM:229850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Small nail, Failure to thrive, Thin eyebrow, Microcephaly, Delayed CNS myelination, Corneal opaci...	OMIM:608670
Vacterl With Hydrocephalus	Microcornea, Anophthalmia, Cryptorchidism, Hypoplasia of the radius, Microphthalmia, Hip dislocation	ORPHA:3412
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Abnormal CNS myelination, Microphthalmia	OMIM:619053
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Disproportionate short stature, Areas of hypopigmentation and hyperpigmentation that do not follo...	OMIM:210720
Multiple Sulfatase Deficiency	Cerebral atrophy, Peripheral demyelination, Abnormal periventricular white matter morphology, CNS...	OMIM:272200
Fryns Syndrome	Cerebral cortical atrophy, Hypoplastic fingernail, Agenesis of corpus callosum, Corneal opacity, ...	ORPHA:2059
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Annular pancreas, Preaxial hand polydactyly, Partial duplication of th...	OMIM:227646
Developmental And Epileptic Encephalopathy 49	Basal ganglia calcification, Cerebral calcification, Long eyelashes, Thick eyebrow, Dysplastic co...	OMIM:617281
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Leukoencephalopathy, Microcornea, Focal cortical dysplasia, Ectopia pupillae, Hypoplasia of the i...	OMIM:175780
Abetalipoproteinemia	Peripheral demyelination, CNS demyelination, Abetalipoproteinemia	OMIM:200100
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Hypocalcemic tetany, Basal ganglia calcification, Ab...	ORPHA:93325
Joubert Syndrome 14	Postaxial polydactyly, Highly arched eyebrow, Microphthalmia	OMIM:614424
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Mosaic Variegated Aneuploidy Syndrome	Cataract, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hypothyroidism, Multiple cafe-...	ORPHA:1052
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Microcornea, Sandal gap, Broad hallux, Adrenal insufficiency, Thick...	OMIM:300166
Leukodystrophy, Hypomyelinating, 4	Secondary microcephaly, Leukodystrophy	OMIM:612233
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplastic anterior commissure, Peters anomaly, Small nail, Hypoplasia of the corpus callosum, B...	OMIM:616975
Marchiafava-Bignami Disease	Abnormal corpus callosum morphology, Abnormal basal ganglia morphology, CNS demyelination	ORPHA:221074
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Microphthalmia, Anophtha...	ORPHA:2538
Treacher-Collins Syndrome	Iris coloboma, Cataract, Failure to thrive, Abnormal hair morphology, Low anterior hairline, Abse...	ORPHA:861
Fanconi Anemia, Complementation Group N	Absent thumb, Short thumb, Hyperpigmentation of the skin, Hypoplasia of the radius, Microphthalmi...	OMIM:610832
Rothmund-Thomson Syndrome	Short stature, Infertility, Hypopigmentation of the skin, Reticular hyperpigmentation	ORPHA:2909
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Small hand, 11 pairs of ribs, Cryptorchidism, Hypothyroidism, Hip dysplasia, Microphtha...	OMIM:620005
Witteveen-Kolk Syndrome	Cataract, High anterior hairline, Medial flaring of the eyebrow, Fine hair, Decreased response to...	OMIM:613406
Microphthalmia, Syndromic 6	Female hypogonadism, Toe syndactyly, Abnormality of the hypothalamus-pituitary axis, Finger synda...	OMIM:607932
Hurler Syndrome	Abnormal CNS myelination, Opacification of the corneal stroma, Corneal opacity, Hirsutism	OMIM:607014
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Seizure, Abnormal hair morphology, Leukonychia, Abnormality of retinal pigmentation, Anophthalmia...	ORPHA:2526
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Leukoencephalopathy, Cerebral cortical atrophy, Failure to thrive, Cerebral calcification, Perive...	OMIM:620024
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Corpus callosum atrophy, Leukodystrophy, Diffuse leukoencepha...	OMIM:169500
Adult Krabbe Disease	Abnormal corpus callosum morphology, Peripheral demyelination, Abnormal corticospinal tract morph...	ORPHA:206448
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con...	OMIM:603553
Bosma Arhinia Microphthalmia Syndrome	Cataract, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Microphthalmia, Syno...	OMIM:603457
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Short sternum, Hyperconvex nail, Congenital pseudoarthr...	ORPHA:2563
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Heterochromia iridis, Ataxia...	ORPHA:163746
Lichen Planopilaris	Hypopigmented skin patches	ORPHA:525
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Polymic...	OMIM:253280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Renal agenesis, Ureterocele, Fair hair, Vesicoureteral reflux, Hydronephrosis, Bladd...	OMIM:129900
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Cryptorchidism, Low anterior hairline, 2-3 toe syndactyly, Long fingers, Microphthal...	OMIM:616734
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hyperglycinemia, Leukodystrophy	OMIM:614299
Isolated Complex I Deficiency	Leukoencephalopathy, Failure to thrive, Leukodystrophy, Microcephaly, Increased serum pyruvate, D...	ORPHA:2609
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Hypopituitarism...	ORPHA:672
Isolated Sedoheptulokinase Deficiency	Steatorrhea, Abnormal CNS myelination, Subcortical cerebral atrophy	ORPHA:440713
Histiocytoid Cardiomyopathy	Failure to thrive, Megalocornea, Congenital aphakia, Agenesis of corpus callosum, Corneal opacity...	ORPHA:137675
Multiple Sclerosis, Susceptibility To	CNS demyelination	OMIM:126200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyebrow, Finger clinodactyly, Camptodactyly of finger, Sparse eyelashes, Brachyd...	ORPHA:306542
Monosomy 9P	Highly arched eyebrow, Abnormality of the tarsal bones, Thick eyebrow, Cryptorchidism, Low poster...	ORPHA:261112
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Failure to thrive, Leukodystrophy	ORPHA:444013
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Renal agenesis, Ureterocele, Megacystis, Fair hair, Vesicoureteral reflux, Hydroneph...	OMIM:604292
Smith-Lemli-Opitz Syndrome	Cataract, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly...	ORPHA:818
Norrie Disease	Cataract, Cerebral cortical atrophy, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, A...	ORPHA:649
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse hair, Iris coloboma, Sparse eyebrow, Absent nipple, Broad hallux, Clinodactyly, Small nail...	OMIM:620186
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of ...	ORPHA:1974
Cerebrofacioarticular Syndrome	Absence of pubertal development, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ...	ORPHA:314679
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Leukoencephalopathy, Fine hair, Premature graying of hair, Leukodystrophy, Cerebral calcification...	OMIM:612199
Monosomy 9Q22.3	Cataract, Abnormal rib morphology, Polydactyly, Ovarian fibroma, Microphthalmia	ORPHA:77301
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Microphthalmia, Foot polydactyly, Iris coloboma, Short palm	ORPHA:268249
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, High anterior hairline	ORPHA:363444
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Failure to thrive, Agenesis of corpus callosum, Dysplastic corpus call...	OMIM:151050
Meckel Syndrome 14	Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polyd...	OMIM:619879
Localized Scleroderma	Vitiligo, Hyperpigmentation of the skin, Hypopigmented skin patches, Abnormality of the kidney	ORPHA:90289
Craniorachischisis	Bifid sternum	ORPHA:63260
Joubert Syndrome 2	Seizure, Microphthalmia	OMIM:608091
Sotos Syndrome	Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Renal agenesis, Cerebral atrophy, Apl...	ORPHA:821
Syndromic Diarrhea	Renal hypoplasia, Intrauterine growth retardation, Generalized hypopigmentation, Short stature, H...	ORPHA:84064
Dyskeratosis Congenita	Hypopigmented skin patches, White hair, Premature graying of hair, Intrauterine growth retardatio...	ORPHA:1775
Rothmund-Thomson Syndrome Type 2	Short stature, Hypopigmentation of the skin, Growth delay, Hyperpigmentation of the skin	ORPHA:221016
Monosomy 13Q14	Cataract, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microphthalmia, Clin...	ORPHA:1587
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral hypoplasia, Bilateral microphthalmos, Cerebral atrophy, Polymicrogyria, Simplified gyral...	ORPHA:468631
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ...	ORPHA:699
White-Kernohan Syndrome	Horizontal eyebrow, Long eyelashes, Thick eyebrow, Broad medial eyebrow, Obesity, Dysplastic corp...	OMIM:619426
Proboscis Lateralis	Abnormal corpus callosum morphology, Cataract, Microcornea, Abnormal eyebrow morphology, Anophtha...	ORPHA:141099
Mosaic Trisomy 20	Horseshoe kidney, Intrauterine growth retardation, Hypopigmented streaks, Abnormality of the kidn...	ORPHA:1724
Frontofacionasal Dysplasia	Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma	OMIM:229400
Late-Infantile/Juvenile Krabbe Disease	Abnormal CNS myelination	ORPHA:206443
Holoprosencephaly 7	Bilateral microphthalmos, Panhypopituitarism, Agenesis of corpus callosum, Microcephaly, Micropht...	OMIM:610828
Eec Syndrome	Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Generalized hy...	ORPHA:1896
Osteoporosis-Pseudoglioma Syndrome	Cataract, Tibial bowing, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Metaph...	OMIM:259770
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Adrenal hypoplasia, Postaxial hand polydactyly, Microphthalmia, Thyroid hypoplasi...	ORPHA:2166
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Vitiligo, Tubulointerstitial fibrosis, Short stature, Hypermelanotic macu...	OMIM:607944
22Q11.2 Deletion Syndrome	Cataract, Hypopigmented skin patches, Failure to thrive, Obesity, Hypocalcemia, Corneal neovascul...	ORPHA:567
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Microphthalmia	ORPHA:2728
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Cerebral edema, Microcephaly, Leukodystrophy	OMIM:614462
De Sanctis-Cacchione Syndrome	Keratitis, Leukodystrophy, Cerebral atrophy, Basal ganglia calcification, Microcephaly, Conjuncti...	OMIM:278800
Charge Syndrome	Highly arched eyebrow, Bifid femur, Abnormal tibia morphology, Cryptorchidism, Anophthalmia, Poly...	ORPHA:138
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Microcephaly, Hyperalaninemia, CNS demyelination, Thin corpus callosum	OMIM:620451
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Irregular hyperpigmentation, Renal insufficiency, Pr...	ORPHA:90291
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Abnormality of the urethra, Hypopigmented skin patches, Abnormal ren...	ORPHA:2907
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Cutaneous syndactyly, Low anterior hairline	OMIM:617666
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Ectopic kidney, Short stature, Cerebral edema, Unsteady gait, Hypospadias, Tes...	ORPHA:3063
Acute Disseminated Encephalomyelitis	Diffuse white matter abnormalities, Abnormal basal ganglia morphology, Abnormal periventricular w...	ORPHA:83597
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Cr...	OMIM:249000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Cataract, Broad thumb, Highly arched eyebrow, Prominent fingertip...	OMIM:612474
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 5th fi...	OMIM:613884
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Streak ovary, Astigmatism, Absent septum pellucidum, Agen...	OMIM:618820
Charge Syndrome	Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Absent radius, Hypoparathyroidism, Micro...	OMIM:214800
Zttk Syndrome	Sparse eyebrow, Failure to thrive, Periventricular leukomalacia, Hypoplasia of the corpus callosu...	OMIM:617140
Renpenning Syndrome 1	Cataract, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Sparse lateral...	OMIM:309500
Immunodeficiency 23	Abnormal CNS myelination, Failure to thrive	OMIM:615816
Fontaine Progeroid Syndrome	Absent nipple, Coarse hair, Small nail, Failure to thrive, Hypertrichosis, Hypoplasia of the corp...	OMIM:612289
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Failure to thrive, Leukodystrophy, Anterior polar cataract, Overweight	OMIM:619575
Adams-Oliver Syndrome 1	Alopecia, Small nail, Seizure, Supernumerary nipple, Microphthalmia	OMIM:100300
Mowat-Wilson Syndrome	Abnormal corpus callosum morphology, Cataract, Microcornea, Aplasia/Hypoplasia of the cerebral wh...	OMIM:235730
Townes-Brocks Syndrome	Toe clinodactyly, Cataract, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand...	ORPHA:857
Metachromatic Leukodystrophy, Late Infantile Form	Punctate periventricular T2 hyperintense foci, Abnormal social behavior, Leukodystrophy	ORPHA:309256
Coffin-Lowry Syndrome	Highly arched eyebrow, Bifid sternum, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Tapere...	OMIM:303600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hypopigmentation of the ski...	ORPHA:95455
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Metachromatic Leukodystrophy, Juvenile Form	Punctate periventricular T2 hyperintense foci, Abnormal social behavior, Leukodystrophy	ORPHA:309263
Branchiooculofacial Syndrome	Iris coloboma, Cataract, Short thumb, Supernumerary nipple, Preaxial hand polydactyly, Ectopic th...	OMIM:113620
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Cataract, Sparse hair, Absent thumb, Clinodactyly, Radial deviation of finger, Mi...	OMIM:268300
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Absent radius	OMIM:115470
Neu-Laxova Syndrome 1	Cataract, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Pterygium,...	OMIM:256520
Mitochondrial Complex I Deficiency, Nuclear Type 1	Leukoencephalopathy, Failure to thrive, Leukodystrophy, Focal T2 hyperintense basal ganglia lesio...	OMIM:252010
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Supernumerary nipple, Slender build, Hypoplasia of the corpus callosum, Dyspla...	ORPHA:466791
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Polymicrogyria...	ORPHA:500150
Aicardi-Goutières Syndrome	Degeneration of the striatum, Leukodystrophy, Cerebral calcification, Hypoplasia of the corpus ca...	ORPHA:51
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Vesicoureteral reflux, Hypointensity of cerebral white matter on MRI, Abn...	ORPHA:163956
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Microcephaly, Inappropriate antidiuretic hormone secretion, Leukody...	ORPHA:79124
Papillon-Lefèvre Syndrome	Cerebral calcification, Hypopigmented skin patches	ORPHA:678
Sarcoidosis	Nephrocalcinosis, Hypopigmentation of the skin, Renal insufficiency, Nephrolithiasis, Hypercalciu...	ORPHA:797
Fanconi Anemia, Complementation Group L	Microphthalmia, Cafe-au-lait spot, Absent thumb, Absent radius	OMIM:614083
Tetragametic Chimerism	Micropenis, Perineal hypospadias, Hypopigmented skin patches	ORPHA:199310
Fraser Syndrome 1	Small nail, Bilateral microphthalmos, Cutaneous finger syndactyly, Extension of hair growth on te...	OMIM:219000
Familial Tumoral Calcinosis	Nephrocalcinosis, Hypopigmented skin patches	ORPHA:53715
Glycogen Storage Disease Ii	Abnormal CNS myelination, Increased circulating creatine kinase MB isoform, Increased circulating...	OMIM:232300
Metachromatic Leukodystrophy, Adult Form	Punctate periventricular T2 hyperintense foci, Abnormal social behavior, Leukodystrophy	ORPHA:309271
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Failure to thrive, Peripheral demyelination, Hyperammonemia, Hirsutism, Lo...	OMIM:220111
Atypical Werner Syndrome	Glycosuria, Abnormal circulating leptin concentration, Fasting hyperinsulinemia, Hypogonadism, Pr...	ORPHA:79474
Secondary Syringomyelia	CNS demyelination, Fatigable weakness	ORPHA:99857
Pallister-Killian Syndrome	Hyperpigmented streaks, Rhizomelia, Hypopigmentation of the skin, Growth delay, Secondary microce...	OMIM:601803
Menkes Disease	Sparse hair, Bowing of the long bones, Tarsal synostosis, Woolly hair, Abnormal metaphysis morpho...	ORPHA:565
Holoprosencephaly 9	Anterior pituitary agenesis, Abnormal cortical gyration, Decreased response to growth hormone sti...	OMIM:610829
Cerebrotendinous Xanthomatosis	Juvenile cataract, Hyperintensity of cerebral white matter on MRI, Hypothyroidism, Hypermyelinate...	ORPHA:909
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Ectopic posterior pituitary, Highly arched eyebrow,...	ORPHA:508488
Niemann-Pick Disease Type C	Leukodystrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Frontal cortical atrophy, De...	ORPHA:646
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hypoplastic anterior commissure, Lateral ventricle dilatation, Ectopia pupillae, Secondary microc...	ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Slender build, Dysplastic corpus callosum, Pineal cyst, Delayed puberty, Thick corpus callosum	OMIM:300967
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Cryptorchidism, Anophthalmia, Abnormal h...	ORPHA:2052
Progressive Multifocal Leukoencephalopathy	CNS demyelination	ORPHA:217260
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma...	ORPHA:892
Trigeminal Neuralgia	Peripheral demyelination, CNS demyelination	ORPHA:221091
Mend Syndrome	Short stature, Crossed fused renal ectopia, Spotty hypopigmentation, Dandy-Walker malformation	OMIM:300960
Mowat-Wilson Syndrome	Cataract, Horizontal eyebrow, Focal cortical dysplasia, Polymicrogyria, Large basal ganglia, Axen...	ORPHA:2152
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal corpus callosum morphology, Cataract, Failure to thrive, Lateral ventricle dilatation, P...	ORPHA:261537
Microphthalmia, Syndromic 1	Microcornea, Prominent fingertip pads, Clinodactyly, Radial deviation of finger, Ciliary body col...	OMIM:309800
Holoprosencephaly 1	Seizure, Microphthalmia	OMIM:236100
Kindler Syndrome	Spotty hypopigmentation, Spotty hyperpigmentation, Phimosis, Urethral stenosis	OMIM:173650
Holoprosencephaly 2	Anterior pituitary agenesis, Agenesis of corpus callosum, Microcephaly, Adrenal hypoplasia, Micro...	OMIM:157170
Bickerstaff Brainstem Encephalitis	Mydriasis, Anisocoria, Acute demyelinating polyneuropathy, CNS demyelination	ORPHA:79138
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland ...	OMIM:154500
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Leukodystrophy	OMIM:601539
Acute Transverse Myelitis	Decreased circulating copper concentration, CNS demyelination	ORPHA:139417
Maternal Phenylketonuria	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Abnormal renal morphology, Mi...	ORPHA:2209
Craniofacial Microsomia 1	Cervical ribs, Genu valgum, Partial duplication of thumb phalanx, Anophthalmia, Microphthalmia, L...	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 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
Eye - MPATH pathological entity term cataract	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

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

Eye Morphology

X-ray

X-ray

Histopathology

Human diseases caused by Pah mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data