Gene Summary

Name:
phenylalanine hydroxylase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 1.93×10-05
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM Early adult 3.88×10-06
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 6.07×10-06
abnormal sternum morphology Pahem1(IMPC)Tcp HET Early adult 0.00
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00
small spleen Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Eye Morphology

Images Ophthalmoscopy

108 Images

Eye Morphology

Images Slit Lamp

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Histopathology

Images

3 Images

Gross Pathology and Tissue Collection

Images

17 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Gemignani Syndrome
Hypoplasia of penis, Ataxia, Short stature, Impaired pain sensation, Hypopigmented skin patches, ... ORPHA:2074
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Microcephaly, Hypopigmented skin patches, Melanocytic nevus, Irregular hyperpigmen... ORPHA:2435
Dyschromatosis Universalis Hereditaria
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... ORPHA:241
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Growth delay, Athetosis, Hypopigmentation of the skin, Dandy-Walker malformation OMIM:257800
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... ORPHA:2779
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Gombo Syndrome
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Lissencephaly 8
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Hypoplasia of the cor... OMIM:617255
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Subco... ORPHA:33445
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Gait disturbance, Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai... OMIM:607624
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Highly arched eyebrow, Microcephaly, Synophrys, Simplified gyral pattern, Cerebral atro... OMIM:619286
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Lateral ventricle dilatation... ORPHA:79326
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Microcephaly, Decreased LDL cholesterol concentration, D... OMIM:616834
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism OMIM:606574
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt... ORPHA:411515
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Microcephaly, Corpus callosum atrophy, CNS hypomyelination, Cerebr... ORPHA:369939
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim... ORPHA:3453
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... ORPHA:189
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystrophy, Hyperin... ORPHA:527497
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Developmental cataract ORPHA:85163
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Nephrolithiasis, Decreased fertility, Delayed pu... ORPHA:1816
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Lissencephaly, X-Linked, 1
Ataxia, Postnatal growth retardation, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus c... OMIM:300067
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to... ORPHA:289494
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Hypoplasia of the corpus callosum, Leukodystrophy, CNS hypomyelination OMIM:616494
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... OMIM:256710
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Warburg Micro Syndrome 1
Delayed CNS myelination, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Developmenta... OMIM:600118
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ce... OMIM:614482
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Leukodystrophy, Hypomyelinating, 10
Reduced cerebral white matter volume, Prominent eyelashes, Cerebral atrophy, CNS hypomyelination,... OMIM:616420
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iri... OMIM:610023
Classic Phenylketonuria
Hypopigmentation of hair, Cerebral calcification, Microcephaly, Growth delay, Attention deficit h... ORPHA:79254
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Leukoencephalopathy With Vanishing White Matter 1
Decreased circulating progesterone, Cessation of head growth, Cerebral hypomyelination, Leukoence... OMIM:603896
Hereditary Methemoglobinemia
Small for gestational age, Microcephaly, Delayed myelination, Temporal cortical atrophy, Cerebral... ORPHA:621
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Synoph... OMIM:620317
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Fine hair, Abnormal cerebr... ORPHA:500166
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Cataract, Small for gestational age, Hirsutism ORPHA:85288
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Developmental And Epileptic Encephalopathy 5
Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypopl... OMIM:613477
Phenylketonuria
Cerebral calcification, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic... OMIM:261600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Abnormal hair whorl, Delayed myelination, Simplified gyral pattern, Ce... OMIM:614261
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Microcephaly, Postnatal gro... ORPHA:391417
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Fa... OMIM:616577
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma OMIM:616428
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Squalene Synthase Deficiency
Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio... OMIM:618156
Potocki-Lupski Syndrome
Small for gestational age, Microcephaly, Delayed myelination, Hypoplasia of the corpus callosum, ... OMIM:610883
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination, Frontotemporal cerebral atrophy, Secondary microcephaly, Hypoplasia of the c... OMIM:618559
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Developmental And Epileptic Encephalopathy 86
Microcephaly, Small for gestational age, CNS hypomyelination OMIM:618910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, Cataract, Synophrys, Leukoencephalopathy, Cerebral atrophy, CNS hypomyel... OMIM:619260
Leukodystrophy, Hypomyelinating, 15
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodyst... OMIM:617951
Griscelli Syndrome Type 1
Cerebral calcification, Ataxia, Partial albinism, White hair, Premature graying of hair, Iris hyp... ORPHA:79476
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism ORPHA:2786
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, Failure to thrive, Cerebral atrophy, Microcephaly OMIM:300475
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Delayed CNS myelination, Cataract, Microcephaly, Retinal pigment epitheli... OMIM:614105
Leukodystrophy, Hypomyelinating, 5
Cerebral white matter atrophy, Developmental cataract, CNS hypomyelination, Leukodystrophy, Onion... OMIM:610532
Developmental And Epileptic Encephalopathy 93
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Iris colo... OMIM:618012
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, CNS hypomyelination, Pili canaliculi ORPHA:643
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Infantile spasms OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive, Abnormal fingernail morphology, Cataract ORPHA:2278
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spasticity, Childhood-Onset, With Hyperglycinemia
Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy OMIM:616859
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ... ORPHA:79414
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, CNS hypomyelination, Hypomagnesemia, Hypothyroidism, Thin corpus callosum OMIM:619908
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... OMIM:619165
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Hypoglycinemia, Abnormal cortical gyration, Abnormality of hair te... ORPHA:79351
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, CNS hypomyelination, Cerebral cortical atrophy, Hypoplasia of the ... OMIM:607694
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Diabetes mellitus, Highly arched eyebrow, Microcephaly, Low anterior hairline, Simplified gyral p... OMIM:618622
Mucolipidosis Iv
Corneal opacity, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastrine... OMIM:252650
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Microcephaly, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the ... OMIM:615760
Adams-Oliver Syndrome 4
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phal... OMIM:615297
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation... OMIM:214400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... ORPHA:79397
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Severe demyelination of the white matter, CNS hypomyelination, Progressive microcephaly, Hypoplas... ORPHA:481152
Kaya-Barakat-Masson Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy, CNS hypomyelination OMIM:619125
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Abnormal basal ganglia morphology, CNS hypomyelination, Cerebral c... ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, CNS hypomyelination ORPHA:88637
Al-Raqad Syndrome
Inability to walk, Microcephaly, Hypopigmentation of the skin, Gait ataxia OMIM:616459
Leukodystrophy, Hypomyelinating, 22
Astigmatism, CNS hypomyelination OMIM:619328
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Thin corpus callosum, CNS hypomyelination OMIM:619688
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Microcephaly, Delayed myelination, Pigmentary... OMIM:617613
2Q24 Microdeletion Syndrome
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Developmental cataract, Hypocholesterol... OMIM:618810
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia o... OMIM:610015
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Secondary microcephaly, Leukodystrophy, Microcephaly OMIM:616763
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebr... OMIM:616171
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid... ORPHA:139471
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Lissencephaly, Polymicrogyria, CNS hypomyelination OMIM:614883
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Low anterior hairl... OMIM:613153
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Phakomatosis Pigmentovascularis
Cerebral calcification, Generalized hyperpigmentation, Hypopigmented skin patches, Paresthesia, C... ORPHA:2875
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Combined Oxidative Phosphorylation Deficiency 53
Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum, CNS hypomyelin... OMIM:619423
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... OMIM:601706
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Hypopigmentation of the s... ORPHA:177910
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Multiple Mitochondrial Dysfunctions Syndrome 4
Abnormal periventricular white matter morphology, Leukodystrophy OMIM:616370
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Seizure OMIM:274270
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Ddost-Cdg
Failure to thrive, Primary hypothyroidism, CNS hypomyelination ORPHA:300536
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Microphthalmia, Seizure, Abnormality of retinal pigmentation OMIM:251270
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, CNS hypomyelination, Abnormal... OMIM:312080
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growth, Mild microcephaly, ... ORPHA:411511
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Tonic seizure, Focal-onset seizure, Focal motor seizure, Erratic myoclonus, Gen... OMIM:308350
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystr... OMIM:614381
Oculocerebrocutaneous Syndrome
Microphthalmia, Alopecia, Anophthalmia, Seizure OMIM:164180
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Microcephaly, Thin corpus callosum, CNS hypomyelination OMIM:620023
Maternal Uniparental Disomy Of Chromosome X
Short stature, Microcephaly, Azoospermia, Agenesis of corpus callosum, Hypopigmentation of the skin ORPHA:261519
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Frontal cortical ... OMIM:618437
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral calcification, Cataract, Microcephaly, Hypogonadism... ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Microcephaly, CNS hypomyelination, Hypoplasia... OMIM:616239
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Decreased... OMIM:234050
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, Leukoencephalopathy, CNS hypomyelination OMIM:615281
Nanophthalmos 4
Microphthalmia OMIM:615972
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification, Paresthesia OMIM:615361
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Microcephaly, CNS hypomyelination, Astigmatism, Leukodystrophy, Pachygyria, Cerebral cortical atr... OMIM:619576
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Delayed myelination, Cerebral white matter atrophy ORPHA:599373
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt... ORPHA:98794
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Neuropathy, Congenital Hypomyelinating, 3
Microcephaly, Hypoplasia of the corpus callosum, Cachexia, CNS hypomyelination OMIM:618186
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination OMIM:618557
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Failure to thrive, Microcephaly OMIM:618276
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Long eyelashes, Mi... ORPHA:48431
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, CNS hypomyelination, Pigmentary retinopathy, Hypoplasia of the corpus cal... OMIM:614230
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Cerebral white ... ORPHA:3008
Spastic Paraplegia 44, Autosomal Recessive
Hypoplasia of the corpus callosum, CNS hypomyelination OMIM:613206
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Waardenburg Syndrome, Type 4A
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... OMIM:277580
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero... ORPHA:2885
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Leukoencephalopathy, Leukodystrophy OMIM:614561
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin ORPHA:71526
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... OMIM:615771
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Corneal opacity, Hypermelanotic macule, Cataract, Microcephaly, Abno... ORPHA:317
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Cataract, Small for gestational age, Microcephaly, Basal ganglia calcif... OMIM:214150
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Abnormal rib morphology, Iris coloboma ORPHA:195
Adenylosuccinase Deficiency
Microcephaly, Cerebral atrophy, CNS hypomyelination, Inappropriate laughter, Cerebral hypomyelina... OMIM:103050
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Cerebral hypomyelination, Delayed myelination ORPHA:79097
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Rocker bottom foot OMIM:616570
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Split foot, Cryptorchidism OMIM:601349
Pierpont Syndrome
Cryptorchidism, Short toe, Microcornea, Short finger, Prominent fingertip pads, Microphthalmia, H... ORPHA:487825
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Bilateral microphthal... ORPHA:77299
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Slc35A2-Cdg
Cerebral white matter atrophy, Short stature, Microcephaly, Inability to walk, Cortical dysplasia... ORPHA:356961
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Microcephaly, Simplified gyral pattern, CNS hypomyelination, Hypoplasia of the corpus callosum, P... OMIM:615966
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... ORPHA:1942
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Cessation of head growth, Secondary microcephaly, Gai... ORPHA:98795
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Hypointensity of cerebral white matter on MRI, Leukodystrophy OMIM:619196
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Spars... OMIM:617193
Hartnup Disease
Abnormal urinary color, Ataxia, Short stature, Hypopigmented skin patches, Irregular hyperpigment... ORPHA:2116
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy, Cerebral atrophy OMIM:608804
Pierpont Syndrome
Cryptorchidism, Short toe, Microcornea, Short foot, Short finger, Short palm, Prominent fingertip... OMIM:602342
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Down-sloping shoulders, Astigmatism, Camptodactyly, Microphthalmia, Sparse lateral eyebrow OMIM:619694
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Cryptorchidism, Blue irides, Short metatarsal, Advanced ossi... OMIM:614613
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule ORPHA:69125
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Decreased response to growth hormone stimulation test, Microcephaly, Hypothyroidism, Cerebral atr... OMIM:618922
Triokinase And Fmn Cyclase Deficiency Syndrome
Delayed CNS myelination, Cataract, Failure to thrive in infancy, Hypoalbuminemia, Microphthalmia OMIM:618805
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Proximal placement of thumb, Abnormal rib morphology, Abnorma... ORPHA:93267
Methionine Malabsorption Syndrome
Seizure, White hair, Blue irides OMIM:250900
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Hypopigmentation of the skin, Microcephaly ORPHA:261304
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Short stature, Growth delay, Reduced renal corticomedullary differentia... OMIM:618541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Elevated circulating creatine kinase concentration, Microcephaly, Developmental cataract, Hypopla... OMIM:613155
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Secondary microcephaly, Primary microcephaly, Cerebral hypomyelination, Frontal hirsutism, Genera... OMIM:612949
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Hyperinsulinem... ORPHA:79237
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys, Seizure ORPHA:261272
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Piebaldism
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Microcephaly, Piebaldism, Hypop... ORPHA:2884
Developmental And Epileptic Encephalopathy 29
Microcephaly, Failure to thrive, Cerebral atrophy, CNS hypomyelination OMIM:616339
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Cataract OMIM:611040
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Leukodystrophy, Microcephaly OMIM:612438
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Fair hair, Hypopigmentation of the skin, Cerebral atrophy OMIM:269920
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h... OMIM:615830
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral at... OMIM:612164
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Microcephaly, Cerebral atrophy, Colpocephaly, Hyperlysinuria, Leukodystr... OMIM:616034
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop... ORPHA:1553
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Delayed CNS myelination, Microcephaly, Paroxysmal bursts of laughter, CNS hypomyelination, Thin c... OMIM:619580
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt... OMIM:619339
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Hawkinsinuria
Sparse hair, Microcephaly, Failure to thrive, Hypertyrosinemia OMIM:140350
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Hypoplasia of the corpus callosum, Pachygyria, Cerebral... OMIM:614922
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Microcephaly, Sacral hypertrichosis, High nonceruloplasmin-bound serum cop... ORPHA:457351
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Diffuse cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hyperintensity of cere... ORPHA:438114
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Cryptorchidism, Cerebral atrophy, Choreoathetosis, Hypoplasia of ... OMIM:614969
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism ORPHA:363741
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Sparse hair, Micro... OMIM:610756
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Microcephaly, Delayed myelination, Nail dystrophy, Hypoplasia of the corpu... OMIM:300887
Vogt-Koyanagi-Harada Disease
Short stature, Poliosis, Hypopigmented skin patches, Premature graying of hair, Cognitive impairm... ORPHA:3437
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Pelizaeus-Merzbacher Disease In Female Carriers
Hyperintensity of cerebral white matter on MRI, Abnormal corpus callosum morphology, CNS hypomyel... ORPHA:280229
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Sandestig-Stefanova Syndrome
Delayed CNS myelination, Laterally extended eyebrow, Small for gestational age, Highly arched eye... OMIM:618804
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Short stature, Hypopigmented skin patches, Abnormal localization of kidney, Delayed puberty ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Leukoenceph... OMIM:615181
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... ORPHA:290
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Cerebral atrop... ORPHA:309246
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly OMIM:602361
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Subcortical cerebral atrophy... ORPHA:79321
Congenital Toxoplasmosis
Microphthalmia, Seizure, Abnormality of retinal pigmentation ORPHA:858
Temtamy Syndrome
Brachydactyly, Short toe, Clinodactyly of the 5th finger, Microphthalmia, Iris coloboma, Genu varum ORPHA:1777
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2251
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyseal widening, Abnorma... ORPHA:2788
Vici Syndrome
Abnormality of retinal pigmentation, Short stature, Hypoplasia of the pons, Ureteral atresia, Ren... ORPHA:1493
Microcephaly 10, Primary, Autosomal Recessive
Delayed CNS myelination, Cataract, Small for gestational age, Reduced cerebral white matter volum... OMIM:615095
Angelman Syndrome
Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Secondary microcephaly, Fair hair... OMIM:105830
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Pachygyria, Delayed myelination, Low ... ORPHA:79324
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Short stature, Proteinuria, Microcephal... OMIM:251300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Leukodystrophy, Hypomyelinating, 17
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Hirsutism OMIM:618006
Leukodystrophy, Hypomyelinating, 24
Cataract, Microcephaly, Cerebral atrophy, Leukodystrophy, Hypothyroidism, Thin corpus callosum OMIM:619851
Waardenburg Syndrome, Type 3
Partial albinism, Microcephaly, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:148820
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Cataract, Microcephaly, Fine hair, Microc... OMIM:601675
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Pelizaeus-Merzbacher Disease, Connatal Form
Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Abnormal myelination, Cereb... ORPHA:280210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Kaufman Oculocerebrofacial Syndrome
Microcephaly, Sparse eyebrow, Microcornea, Astigmatism, Hypoplasia of the corpus callosum, Hypoch... OMIM:244450
Cystinosis, Nephropathic
Cerebral calcification, Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndro... OMIM:219800
Lissencephaly Due To Tuba1A Mutation
Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,... ORPHA:171680
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ne... ORPHA:35173
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Trichothiodystrophy 3, Photosensitive
Delayed CNS myelination, Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger ta... OMIM:616395
Frontonasal Dysplasia 1
Cataract, Postaxial hand polydactyly, Widow's peak, Radial deviation of finger, Camptodactyly, Mi... OMIM:136760
Juvenile Amyotrophic Lateral Sclerosis
Microcephaly, Cachexia, CNS hypomyelination ORPHA:300605
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis... ORPHA:999
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Elevated circulating creatine kinase concentration, Sparse eyebrow, Secondary microcephaly, Hypop... ORPHA:496641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Abnormally large glob... OMIM:615249
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Seizure OMIM:613730
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Abnormal pelvic girdle bone... OMIM:157900
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Leukodystrophy, Hypomyelinating, 12
Microcephaly, Delayed myelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Cer... OMIM:616683
Retinal Dystrophy With Leukodystrophy
Progressive microcephaly, CNS hypomyelination OMIM:618863
Porphyria Variegata
Somatic sensory dysfunction, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased... ORPHA:79473
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Combined Saposin Deficiency
CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal... OMIM:611721
Insulin-Like Growth Factor I Deficiency
Short attention span, Decreased serum insulin-like growth factor 1, Short stature, Elevated circu... OMIM:608747
Leukoencephalopathy, Cystic, Without Megalencephaly
Cerebral calcification, Microcephaly, Leukoencephalopathy, Abnormal CNS myelination, Focal white ... OMIM:612951
Adams-Oliver Syndrome 2
Alopecia, Microcephaly, Low anterior hairline, Cerebral atrophy, Developmental cataract, Lateral ... OMIM:614219
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Baraitser-Winter Syndrome 2
Microphthalmia, Seizure, Highly arched eyebrow OMIM:614583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Cerebral atrophy, CNS... OMIM:615356
Menkes Disease
Intrauterine growth retardation, Short stature, Hypopigmentation of the skin, Microcephaly OMIM:309400
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Toe syndactyly, Sandal gap, Abnormal eyelash morphology,... OMIM:206920
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Warburg Micro Syndrome 3
Cataract, Microcephaly, Low anterior hairline, Developmental cataract, Microcornea, Shallow anter... OMIM:614222
Peroxisome Biogenesis Disorder 8B
Cataract, Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Abnormal cer... OMIM:614877
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Short stature, Proteinu... ORPHA:2715
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body w... OMIM:614833
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, Dysplast... OMIM:619955
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Leukodys... ORPHA:3455
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Cerebral atrophy, Hyperglycinemia, Leukodystrophy, Hypoplasia of the corpus callosu... OMIM:615330
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Abnormality of skin pigmentation, Microphthalmia, Failure to thrive, Polymicrogyria, Hy... OMIM:612379
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe... ORPHA:352731
Bresek Syndrome
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polyd... ORPHA:85284
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Aplasia/Hypoplasia of the corpus callosum, Abnormal cornea morpholog... ORPHA:2611
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microcephal... ORPHA:370959
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:607765
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Hypoplasia of the corpus callosum, Increased circulating very long-chain fatty ... OMIM:617916
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Tyrosinemia, Type Ii
Hypertyrosinemia, Herpetiform corneal ulceration OMIM:276600
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Fucosidosis
Cerebral atrophy, Tortuosity of conjunctival vessels, CNS hypomyelination, Failure to thrive, Thi... OMIM:230000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Ataxia, Short stature, White hair, Ocular albinism, Aplasia/Hyp... ORPHA:2720
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... OMIM:229200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Temtamy Syndrome
Highly arched eyebrow, Lens luxation, Ectopia lentis, Thick corpus callosum, Microphthalmia, Agen... OMIM:218340
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopi... OMIM:615877
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Obesity OMIM:620195
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cataract, Small for gestational age, Decreased response to growth hormone stimulation test, Prema... ORPHA:268261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Cataract, Elevated circulating creatine kinase concentration, Buphthalmos... OMIM:616538
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia, Cavu... OMIM:617306
Megalocornea
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... OMIM:309300
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly... ORPHA:899
Oculofaciocardiodental Syndrome
Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contrac... ORPHA:2712
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal hair morphology, Hyperornithinemia, Aminoaciduria, Subcapsular cataract ORPHA:414
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... OMIM:203300
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... ORPHA:573
Incontinentia Pigmenti
Hypoplasia of the fovea, Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail p... OMIM:308300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Seizure OMIM:602501
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ... ORPHA:14
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Trisomy 13
Cataract, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, ... ORPHA:3378
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... ORPHA:189427
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... ORPHA:98754
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Op... OMIM:609053
Nance-Horan Syndrome
Microcornea, Microphthalmia, Short metacarpal, Cataract ORPHA:627
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypogonadotropic hypogonadism, Im... OMIM:176270
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Highly arched eyebrow, Shallow anterior chamber, Small nail, Cerebral hypom... ORPHA:247262
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Microcephaly, Myopic astigmatism, Simplified gyral pattern, Microcorne... OMIM:152950
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Localized Epidermolysis Bullosa Simplex
Paresthesia, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Low anterior hairline, Developmental cataract, Microcornea, Secondary... OMIM:615663
Dpagt1-Cdg
Microcephaly, CNS hypomyelination, Developmental cataract, Astigmatism, Hypoplasia of the corpus ... ORPHA:86309
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, Microcephaly, CNS hypomyelination OMIM:619322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... ORPHA:98793
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, CNS hypomyelination ORPHA:309155
Dubowitz Syndrome
Sparse scalp hair, Microcephaly, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Meg... OMIM:223370
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly ORPHA:477673
Galactosemia I
Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Aminoaciduria,... OMIM:230400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... ORPHA:177904
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Limbal dermoid, Microcornea, Hypoplasia of the corpus callosum, Micro... ORPHA:1791
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Lissencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:1528
Hereditary Bullous Dystrophy, Macular Type
Short stature, Microcephaly, Cryptorchidism, Spotty hypopigmentation, Growth delay, Decreased tes... ORPHA:1867
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... ORPHA:177901
Oculoskeletodental Syndrome
Hypercalcemia, Dysplastic corpus callosum, Developmental cataract, Abnormality of the frontal hai... ORPHA:557003
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microcorn... ORPHA:3301
Ataxia-Telangiectasia
Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Type ... ORPHA:100
Angelman Syndrome
Broad-based gait, Ataxia, Cerebral dysmyelination, Microcephaly, Inability to walk, Delayed menar... ORPHA:72
Gastrointestinal Defects And Immunodeficiency Syndrome 2
CNS hypomyelination, Leukodystrophy, Hyperintensity of cerebral white matter on MRI, Polymicrogyr... OMIM:619708
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Hypoplasia of the corpus callo... OMIM:618193
Warburg Micro Syndrome 2
Cataract, Overlapping toe, Cryptorchidism, Low anterior hairline, Developmental cataract, Microco... OMIM:614225
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Microcephaly, Elevated circulating thyroid-stimulating hormone concentra... OMIM:300523
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 finge... OMIM:257850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma ORPHA:77298
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Macrocephaly, Cerebral atrophy, Microcephaly OMIM:300337
Martsolf Syndrome 1
Short metacarpal, Cataract, Hypogonadotropic hypogonadism, Metatarsus adductus, Cryptorchidism, S... OMIM:212720
Baraitser-Winter Syndrome 1
Failure to thrive, Highly arched eyebrow, Microcephaly, Low posterior hairline, Lissencephaly, Mi... OMIM:243310
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... ORPHA:2399
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Decrease... ORPHA:739
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian car... OMIM:617883
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures