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
abnormal sternum morphology Pahem1(IMPC)Tcp HET Early adult 0.00
abnormal coat/hair pigmentation Pahem1(IMPC)Tcp HOM Early adult 4.40×10-06
female infertility Pahem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Pahem1(IMPC)Tcp HET Early adult 5.92×10-06
abnormal cornea morphology Pahem1(IMPC)Tcp HOM Early adult 1.07×10-05
small spleen Pahem1(IMPC)Tcp HET Early adult 0.00
small adrenal glands Pahem1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Pahem1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Pahem1(IMPC)Tcp HOM Early adult 0.00
preweaning lethality, incomplete penetrance 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.

Eye Morphology

Images Ophthalmoscopy

108 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Eye Morphology

Images Slit Lamp

20 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Gross Pathology and Tissue Collection

Images

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Histopathology

Images

3 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
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Short stature, Microcephaly, Melanocytic nevus, Hypopigmented skin p... ORPHA:2435
Gemignani Syndrome
Ataxia, Hypoplasia of penis, Short stature, Delayed puberty, Impaired pain sensation, Hypopigment... ORPHA:2074
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Short stature, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait s... ORPHA:241
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Athetosis, Silver-gray hair, 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
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Microcephaly, Intrauterine growth retardation, Cerebral atrophy OMIM:614023
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Lissencephaly 8
Microcephaly, Elevated circulating creatine kinase concentration, Cerebral hypomyelination, Polym... OMIM:617255
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone mo... ORPHA:2779
Gombo Syndrome
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger OMIM:233270
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... OMIM:620058
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cerebral atrophy, Cataract, Developmental cataract, CNS hypomyelination, Decreased circulating ce... OMIM:614482
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Neuroectodermal Melanolysosomal Disease
Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of the skin, H... ORPHA:33445
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Gait disturbance, Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Progressive neurologic ... OMIM:607624
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Frontal upsweep of hair, Microcephaly, Long eyelashes, Cataract, Synophrys, Thi... OMIM:619286
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Intellectual Developmental Disorder, Autosomal Recessive 60
Delayed CNS myelination, Microcephaly, Delayed puberty, Small for gestational age OMIM:617432
Microcephaly 10, Primary, Autosomal Recessive
Delayed myelination, Cerebral atrophy, Small for gestational age, Microcephaly, Cataract, CNS hyp... OMIM:615095
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Microcephaly, Decreased HDL cholesterol concentration, Decreased LDL cholester... OMIM:616834
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides, Macular hypoplasia OMIM:606574
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation OMIM:616113
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Cerebral cortical atrophy, Microcephaly, Corpus callosum atrophy, Cerebral hyp... ORPHA:369939
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Nephrolithiasis, Irregular hyperpigmentation, Hypoplasia of penis, Generalized hypopigmentation, ... ORPHA:1816
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Hirsutism, Cerebral atrophy, Leukodystrophy, Hypoplasia of the corpus callosum, Hyperintensity of... ORPHA:527497
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Developmental cataract ORPHA:85163
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Microcephaly, Hypoplasia of the corpus callosum, Delayed CNS myelination, ... OMIM:617800
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Microcephaly ORPHA:2513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
4H Leukodystrophy
Striatal T2 hyperintensity, Decreased response to growth hormone stimulation test, Hypogonadotrop... ORPHA:289494
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Leukodystrophy, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:616494
Lissencephaly, X-Linked, 1
Ataxia, Micropenis, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesis of ... OMIM:300067
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, Cerebral atrophy, Microcephaly, Cerebral hypomyelination, CNS hypomyelination OMIM:300475
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Failure to thrive, Hypertrichosis, Cerebral atrophy, Delayed CNS myel... OMIM:600118
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Fragile nails, Abnormal cerebral white matter morphology, Fine hair, ... ORPHA:500166
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Cerebral hypomyelination, Hypoplasia o... ORPHA:79326
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy, CNS demyelination, Cessation of head growth, Cerebral hypomyelination, Prima... OMIM:603896
Elejalde Neuroectodermal Melanolysosomal Syndrome
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... OMIM:256710
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Frontal cortical atrophy, Delayed myelination, Sm... ORPHA:621
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea, Hypogonadism ORPHA:2528
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Leukodystrophy, Abnormal periventricular white matter morphology, Delayed myel... OMIM:616881
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Iris coloboma, CNS hypomyelina... OMIM:618012
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Nanophthalmos
Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Woolly Hair
Abnormality of hair texture, Woolly hair, Abnormal pupil morphology, Brittle hair, Sparse body ha... ORPHA:170
Potocki-Lupski Syndrome
Failure to thrive, Poor eye contact, Delayed myelination, Small for gestational age, Microcephaly... OMIM:610883
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hirsutism, Cataract, Small for gestational age ORPHA:85288
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Abnormality of hair texture, Delayed myelination, Microcephaly, Elevated circu... ORPHA:88618
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Progesterone Resistance
Female infertility OMIM:264080
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Poly... OMIM:618156
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Delayed CNS myelination, Thin... OMIM:616577
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Cessation of head growth, Hypopigmentation of the skin, Hypopigmentatio... ORPHA:411515
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior segment d... OMIM:610023
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Leukodystrophy, Hypomyelinating, 10
Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Leukodystrophy, Microcephaly, Hyp... OMIM:616420
Al-Raqad Syndrome
Hypopigmentation of the skin, Microcephaly, Inability to walk, Unsteady gait OMIM:616459
Classic Phenylketonuria
Mental deterioration, Hypopigmentation of the skin, Cerebral calcification, Hypopigmentation of h... ORPHA:79254
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Developmental And Epileptic Encephalopathy 79
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, CN... OMIM:618559
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Short stature ORPHA:2786
Developmental And Epileptic Encephalopathy 86
Microcephaly, CNS hypomyelination, Small for gestational age OMIM:618910
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Hypertriglyceridemia, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Leukodystrophy, Hypomyelinating, 15
Failure to thrive, Cerebral atrophy, Leukodystrophy, Microcephaly, Hypoplasia of the corpus callo... OMIM:617951
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Progressive microcephaly, CNS ... OMIM:613477
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Onion bulb formation, Cerebral white matter atrophy, Developmental cataract, CNS ... OMIM:610532
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Progressive microcephaly, Simp... OMIM:615760
Griscelli Syndrome Type 1
Ataxia, Cerebral calcification, Partial albinism, Iris hypopigmentation, Premature graying of hai... ORPHA:79476
Giant Axonal Neuropathy
Abnormality of the pituitary gland, CNS hypomyelination, Woolly hair, Pili canaliculi ORPHA:643
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Microphthalmia OMIM:278780
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Mucolipidosis Iv
Cerebral dysmyelination, Corneal opacity, Dysplastic corpus callosum, Microcephaly, Opacification... OMIM:252650
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy, Hyperglycinemia, Hypoplasia of the corpus callosum OMIM:616859
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Aminoaciduria, Abnormal fingernail morphology ORPHA:2278
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia, Hypothyroidism, Diffuse cerebral atrophy, Thin corpus callosum, CNS hypomyelination OMIM:619908
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Leukoencephalopathy, Cerebral atrophy, Hypoplasia of the corpus callosum, Cataract, Synophrys, De... OMIM:619260
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Developmental And Epileptic Encephalopathy 78
Microcephaly, CNS hypomyelination, Poor eye contact OMIM:618557
Hsd10 Disease
Ataxia, Focal white matter lesions, Abnormal urinary acylglycine profile, Microcephaly, Gait dist... ORPHA:391417
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Hypogonadotropic hypogonadism, Leukodystrophy, Hypoplasia of the corpu... OMIM:607694
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy, Microcephaly, Elevated circulating creatine kinase concentra... OMIM:617613
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Cerebral hypoplasia, Abnormality of hair texture, Delayed myelination, Microce... ORPHA:79351
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect, Hypoplasia... OMIM:619165
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Low anterior hairline, Microcephaly, Lumbar hypertrichosis, Diabetes mellitus, Progressive microc... OMIM:618622
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Microcephaly, Secondary microcephaly, Leukodystrophy OMIM:616763
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Charcot-Marie-Tooth Disease, Type 4A
Onion bulb formation, Basal lamina onion bulb formation, Decreased number of peripheral myelinate... OMIM:214400
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, ... OMIM:193510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Kaya-Barakat-Masson Syndrome
Microcephaly, CNS hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:619125
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Mottled pigmentation, Spott... ORPHA:79397
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Poor eye contact OMIM:618276
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcephaly, Microcornea, Cataract, Microphthalmia, Simplified gyral pattern OMIM:616171
Tremor-Ataxia-Central Hypomyelination Syndrome
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Hypogonadotropic hypogonadism, Leuk... ORPHA:447896
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, CNS hypomyelination ORPHA:88637
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral hypomyelination, CNS hypomyelination, Cerebral atrophy OMIM:601170
Phakomatosis Pigmentovascularis
Cerebral cortical atrophy, Cognitive impairment, Cerebral calcification, Generalized hyperpigment... ORPHA:2875
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Astigmatism OMIM:619328
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Thin corpus callosum, CNS hypomyelination OMIM:619688
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Abnormality ir... ORPHA:1617
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Leukoencephalopathy, Corpus callosum atrophy, Cerebral hypomyelination, CNS hy... OMIM:608809
Adams-Oliver Syndrome 4
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Toenail dysplasia, Aplasia... OMIM:615297
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly, Microphthalmia OMIM:613094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Low anterior hairline, Elevated circulating creatine kinase concentration, Type ... OMIM:613153
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Dysplastic corpus callosum, Elevated circulating C-reactive protein concentrat... OMIM:619423
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Abnormal periventricular white matter morphology OMIM:616370
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, CNS hypomyelination, Lissencephaly, Polymicrogyria OMIM:614883
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Brittle hair, Sparse eyebrow, Hypocholesterolemia, Developmental cata... OMIM:618810
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Elevated circulating creatine kinase concentration, Hypoplasia of the corpus callos... OMIM:616239
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopigmentation of h... ORPHA:177910
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Cerebral calcification, Microcephaly, Incre... OMIM:261600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Severe demyelination of the white matter, Broad eyebrow, Hypoplasia of the cor... ORPHA:481152
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Basal ganglia gliosis, Cerebral white matter atrophy, Neonatal hyperbilirubinemi... ORPHA:3008
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:618186
Glutamine Deficiency, Congenital
CNS hypomyelination, Hypoglutaminemia, Hypoplasia of the corpus callosum, Hyperammonemia OMIM:610015
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, S... ORPHA:79399
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Seizure OMIM:274270
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Leukodystrophy, Cerebral hypomyelination, Hypoplasia of the corpus... OMIM:614381
Ddost-Cdg
Primary hypothyroidism, Failure to thrive, CNS hypomyelination ORPHA:300536
Oculocerebrocutaneous Syndrome
Alopecia, Microphthalmia, Anophthalmia, Seizure OMIM:164180
Pelizaeus-Merzbacher Disease
Failure to thrive, Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, Thin corpu... OMIM:312080
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia, Seizure OMIM:251270
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Null Syndrome
CNS hypomyelination, Demyelinating peripheral neuropathy, Peripheral demyelination ORPHA:280234
Mmep Syndrome
Cryptorchidism, Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia OMIM:616570
Maternal Uniparental Disomy Of Chromosome X
Short stature, Hypopigmentation of the skin, Microcephaly, Azoospermia, Agenesis of corpus callosum ORPHA:261519
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Leukoencephalopathy, CNS hypomyelination, Hypoplasia of the corpus callosum OMIM:615281
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, CNS hypom... OMIM:618437
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Hypoplasia o... OMIM:604213
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Cerebral calcification, Microceph... ORPHA:1466
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Cataract, Bilateral microphthalmos OMIM:608763
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Microcephaly, Cerebral hypomyelination OMIM:612438
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Sclero... ORPHA:139471
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypogonadism ORPHA:141333
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Cessation of head growth, Hypopigmentation of the skin,... ORPHA:411511
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Leukodystrophy, Microcephaly, Astigmatism, Pachygyria, CNS hypomyelina... OMIM:619576
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Irregular menstruation, Sparse pubic hair, Microcornea, Microphth... OMIM:110100
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Leukoencephalopathy, Leukodystrophy OMIM:614561
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... OMIM:601706
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Hypoplasia of the corpus callosum, Cataract, Microphthalmia, CNS hypomyel... OMIM:614230
Developmental And Epileptic Encephalopathy 1
Focal motor seizure, Erratic myoclonus, Microphthalmia, Tonic seizure, Generalized myoclonic seiz... OMIM:308350
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Premature Ovarian Failure 6
Female infertility, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorr... OMIM:612310
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized hirsutism, Poor eye contact, Cerebral hypomyelination, Frontal hirsutism, Primary mic... OMIM:612949
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Poor eye contact, Microcephaly, Cerebral hypomyelination, Hypoplasia of the corpus callosum, Diff... ORPHA:438114
Waardenburg Syndrome, Type 4A
Ataxia, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premat... OMIM:277580
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Long eyelashes, Cataract, Mi... ORPHA:48431
Piebald Trait-Neurologic Defects Syndrome
Ataxia, Irregular hyperpigmentation, Hypopigmentation of hair, Heterochromia iridis, Hypopigmente... ORPHA:2885
Orofaciodigital Syndrome Xvii
CNS hypomyelination, Decreased body weight OMIM:617926
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Op... OMIM:169550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia ORPHA:1473
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Cataract, Delayed CNS myelina... OMIM:618379
Faciothoracogenital Syndrome
Small nail, Microphthalmia OMIM:227320
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Hypointensity of cerebral white matter on MRI OMIM:619196
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Delayed puberty, Growth delay, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Delayed puberty, Growth delay, Red hair ORPHA:71526
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
2,4-Dienoyl-Coa Reductase Deficiency
Failure to thrive, Hyperlysinemia, Cerebral atrophy, Leukodystrophy, Microcephaly, Decreased plas... OMIM:616034
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Cerebral hypomyelination, Iris hypopigmentation, White eyebrow, Hyp... OMIM:611584
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Hirsutism, Delayed myelination, Basal ganglia calcification, Small for gestati... OMIM:214150
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Erythrokeratodermia Variabilis
Corneal opacity, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alope... ORPHA:317
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Leukodystrophy, Microcephaly, Hypothyroidism, Cataract, Thin corpus callosum OMIM:619851
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal response to ACTH... ORPHA:90793
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Delayed myelination, Cerebral hypomyelination ORPHA:79097
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Microcephaly, Hypoplasia of the corpus callosum, Simplified gyral pattern, Pachygyria, CNS hypomy... OMIM:615966
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Adenylosuccinase Deficiency
Poor eye contact, Cerebral atrophy, Microcephaly, Cerebral hypomyelination, CNS hypomyelination OMIM:103050
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed CNS myelination OMIM:616158
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Sparse eyebrow, Microcephaly, Elevated circulating creatine kinase concentration, Hypoplasia of t... OMIM:617193
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Poor eye contact, Frontal upsweep of hair, Hypoplasia of the corpus ca... OMIM:300983
Pierpont Syndrome
Short toe, Cryptorchidism, Prominent fingertip pads, Microcornea, Microphthalmia, High anterior h... ORPHA:487825
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Cerebral hypomyelination, Cerebral atrophy, Demyelinating motor neuropathy OMIM:608804
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Gait imbalance, Cessation of head growth, Hypopigmentation of the skin, Hypopig... ORPHA:98795
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation ORPHA:69125
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebral atrophy, Microcephaly, Cataract, Delayed CNS myelination, Highly arched eyebrow OMIM:616154
Cat-Eye Syndrome
Abnormal rib morphology, Iris coloboma, Hip dysplasia, Microphthalmia ORPHA:195
Congenital Varicella Syndrome
Microcephaly, Cerebral cortical atrophy, Cataract, Microphthalmia ORPHA:291
Rhizomelic Chondrodysplasia Punctata, Type 1
Cerebral cortical atrophy, Severe failure to thrive, Alopecia, Microcephaly, Elevated levels of p... OMIM:215100
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Poor eye contact, Sacral hypertrichosis, Broad eyebrow, Microcephaly, ... ORPHA:457351
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Delayed myelination, Hypoplasia of the corpus callosum, Pachygyria, CN... OMIM:614922
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Cerebral atrophy, Decreased response to growth hormone stimulation test, Hippo... OMIM:618922
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Leukodystrophy, Microcephaly, Sudanophilic leukodystrophy, Corpus callosum atr... OMIM:260600
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract, Hypoalbuminemia, Delayed CNS myelination, Failure to thrive in infancy OMIM:618805
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Microcornea, Abnormal fingernail morphology, Abnormality of skin pigmentation, Fine ... ORPHA:1806
Pierpont Syndrome
Short toe, Cryptorchidism, Prominent fingertip pads, Microcornea, Short foot, Microphthalmia, Hig... OMIM:602342
Hartnup Disease
Abnormal urinary color, Ataxia, Irregular hyperpigmentation, Short stature, Neutral hyperaminoaci... ORPHA:2116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Cessation of head growth, Hypopigmentation of the skin,... ORPHA:98794
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Split foot, Microphthalmia OMIM:601349
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys, Seizure ORPHA:261272
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Camptodactyly, Astigmatism, Cataract, Microphthalmia, Sparse lateral eyebrow OMIM:619694
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Microcephaly, Intrauterine growth retardation ORPHA:261304
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Microphthalmia, Generalize... ORPHA:1942
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia OMIM:120433
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Growth delay, Reduced renal corticomedullary differentiation, Short stature, Hypopigmentation of ... OMIM:618541
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal rib morphology, Abnormal epiphysis morphology, Cataract, Bowing of the long bones, Micro... ORPHA:93267
Adams-Oliver Syndrome 2
Small nail, Low anterior hairline, Microphthalmia, Seizure OMIM:614219
Methionine Malabsorption Syndrome
Blue irides, White hair, Seizure OMIM:250900
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Anophthalmia, Microphthalmia OMIM:221950
Piebaldism
Ataxia, Heterochromia iridis, Microcephaly, Hypopigmentation of hair, White eyebrow, White eyelas... ORPHA:2884
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Rodrigues Blindness
Sparse hair, Microcornea, Fine hair, Microphthalmia, Sclerocornea OMIM:268320
Developmental And Epileptic Encephalopathy 29
Failure to thrive, Microcephaly, CNS hypomyelination, Cerebral atrophy OMIM:616339
Developmental And Epileptic Encephalopathy 72
Poor eye contact, Cerebral atrophy, Hypoplasia of the corpus callosum, Astigmatism, Delayed CNS m... OMIM:618374
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Small for gestational age, Microcephaly, Cataract, Developmental cataract, Microphth... OMIM:610756
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Nuclear cataract, Small for gestational age, Hypergonadotrop... ORPHA:79237
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract, Microphthalmia OMIM:212550
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Nephrotic syndrome, Fair hair, Cerebral atrophy OMIM:269920
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Abnormal epiphysis morphology, Bowing of the long bones, Microphthalmia, Short ... ORPHA:85167
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Short metacarpal, Cone-shaped epiphysis, Congenital hypothyroidism, Short... OMIM:614613
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Slc35A2-Cdg
Inability to walk, Transient nephrotic syndrome, Cerebral atrophy, Short stature, Hypopigmentatio... ORPHA:356961
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Leukodystrophy, Hypomyelinating, 17
Hirsutism, Cerebral atrophy, Leukodystrophy, Microcephaly, Hypoplasia of the corpus callosum OMIM:618006
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Vogt-Koyanagi-Harada Disease
Cognitive impairment, Poliosis, Short stature, Vitiligo, Premature graying of hair, Hypopigmented... ORPHA:3437
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas ORPHA:90342
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... OMIM:615830
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Abnormality of skin pigmentation, Cataract, Microphthalmia OMIM:611040
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Cataract, Hypogonadism OMIM:601794
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Gracile Bone Dysplasia
Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Asplenia OMIM:602361
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Leukodystrophy, Corpus callosum atrophy, Cataract OMIM:614877
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Pelizaeus-Merzbacher Disease In Female Carriers
Hyperintensity of cerebral white matter on MRI, CNS hypomyelination, Abnormal corpus callosum mor... ORPHA:280229
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Sandestig-Stefanova Syndrome
Small for gestational age, Delayed CNS myelination, Sparse medial eyebrow, Laterally extended eye... OMIM:618804
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Abnormal localization of kidney, Delayed puberty, Short stature ORPHA:1825
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, Cataract, Hypogonadism ORPHA:363741
Peroxisomal Acyl-Coa Oxidase Deficiency
Leukodystrophy, No social interaction, Pigmentary retinopathy, CNS demyelination OMIM:264470
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Alg3-Cdg
Hypopigmentation of the skin, Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus call... ORPHA:79321
Curry-Jones Syndrome
Generalized hirsutism, Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Iris... ORPHA:1553
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Type I diabetes mellitus, Cataract, Microph... ORPHA:290
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Primary amenorrhea, Adrenogenital syndrome OMIM:202110
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:612164
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, 2-5 finger cutaneous syndactyly, Small hand, Popliteal pt... OMIM:619339
Warburg Micro Syndrome 3
Hypertrichosis, Low anterior hairline, Shallow anterior chamber, Cerebral cortical atrophy, Micro... OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, ... OMIM:615181
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Vici Syndrome
Abnormality of retinal pigmentation, Renal tubular acidosis, Cerebral cortical atrophy, Short sta... ORPHA:1493
Bresek Syndrome
Alopecia, Optic nerve hypoplasia, Neonatal death, Postaxial hand polydactyly, Iris coloboma, Decr... ORPHA:85284
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2251
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia ORPHA:324416
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Corneal opacity, Microphthalmia, Metaphyseal widening, Iso... ORPHA:2788
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia, Seizure ORPHA:858
Alg12-Cdg
Failure to thrive, Delayed myelination, Cavum septum pellucidum, Hypoplasia of the corpus callosu... ORPHA:79324
Trichothiodystrophy 1, Photosensitive
Pili torti, Microphthalmia, Sparse hair, Brittle hair, Small for gestational age, Tiger tail band... OMIM:601675
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukoencephalopathy, Focal white matter lesions, Cerebral calcification, Microcephaly, Abnormal C... OMIM:612951
Waardenburg Syndrome, Type 3
Blue irides, Microcephaly, Partial albinism, Heterochromia iridis, White forelock, Premature gray... OMIM:148820
Pontocerebellar Hypoplasia, Type 7
Ataxia, Cerebral atrophy, Micropenis, Hypopigmentation of the skin, Hypoplasia of the pons, Cereb... OMIM:614969
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Iris coloboma, Microphthalmia ORPHA:1777
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Sparse hair, Sparse eyebrow, Microcephaly, Microcornea, Hypoplasia of the corp... OMIM:244450
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cerebral atrophy, Short stature, Cognitive impairment, Chorea, Punc... ORPHA:309246
Microphthalmia-Brain Atrophy Syndrome
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral microphthalmos, Multifocal se... ORPHA:77299
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Femoral bowin... ORPHA:95699
Combined Saposin Deficiency
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, CNS demyelin... OMIM:611721
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Delayed myelination, Microcephaly, Hypoplasia of the corpus callosum, Cataract, Microphthalmia OMIM:614105
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Spotty hyperpigmentat... ORPHA:189439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Elevated circulating creatine kinase concentration, Type II... OMIM:615249
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Cerebral hypomyelination, Abnormal myelination, Macrogyria, Confluent hyperint... ORPHA:280210
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Short stature, Microcephaly, Hypopigmentation of ha... ORPHA:999
Galloway-Mowat Syndrome 1
Ataxia, Nephrotic syndrome, Cerebral atrophy, Diffuse mesangial sclerosis, Short stature, Hypopig... OMIM:251300
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Microcephaly, CNS hypomyelination ORPHA:300605
Frontonasal Dysplasia 1
Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Cataract, Clinodactyly, Widow's peak, M... OMIM:136760
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Microcephaly, CNS hypomyelination, Delayed CNS myelination OMIM:619580
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Brittle hair, Tiger tail banding, Delayed CNS myelination, Trichorrhexis nodos... OMIM:616395
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, CNS hypomyelination, Delayed myelination OMIM:618367
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Cerebral calcification, Glycosuria, Hematuria, Proteinuria, ... OMIM:219800
X-Linked Dominant Chondrodysplasia Punctata
Anterior rib punctate calcifications, Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Coarse h... ORPHA:35173
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Delayed social development, Delayed CNS myelination, Sim... OMIM:619302
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hirsutism, Decreased circulating aldosterone level, Precocious puberty, Increased ci... ORPHA:786
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hirsutism, Cerebral cortical atrophy, Sparse eyebrow, Elevated circulating creatine kinase concen... ORPHA:496641
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Microphthalmia, Seizure OMIM:614583
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Anophthalmia, Microphthalmia OMIM:248450
Retinal Dystrophy With Leukodystrophy
Progressive microcephaly, CNS hypomyelination OMIM:618863
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Microcephaly, Cerebral hypomyelination, Hypoplasia of the corpus callosum, S... OMIM:616683
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Polymicr... OMIM:614833
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Poor eye contact, CNS demyelination OMIM:618237
Microphthalmia With Limb Anomalies
Tibial bowing, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Anophthalmia, Postaxial hand ... OMIM:206920
Leukodystrophy, Childhood-Onset, Remitting
Abnormal cerebral white matter morphology, Leukodystrophy OMIM:619864
Menkes Disease
Hypopigmentation of the skin, Microcephaly, Intrauterine growth retardation, Short stature OMIM:309400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, Microcephaly, Elevated circulating creatine kinase concentration, Cataract, CNS... OMIM:615356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cerebral calcification, Leukodystrophy, Elevated circulating creatine kinase concent... OMIM:616538
Oculocerebral Hypopigmentation Syndrome Of Preus
Growth delay, Generalized hypopigmentation OMIM:257790
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, 11 pairs of ribs, Meta... OMIM:300863
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Angelman Syndrome
Broad-based gait, Cerebral cortical atrophy, Fair hair, Blue irides, Hypopigmentation of the skin... OMIM:105830
Wiedemann-Rautenstrauch Syndrome
Sparse hair, Leukodystrophy, Polymicrogyria, Increased circulating prolactin concentration, Catar... ORPHA:3455
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Elevated circulating creatine kinase concentration, Age... OMIM:619955
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Congenital Disorder Of Glycosylation, Type Ii
Decreased body weight, Poor eye contact, Microcephaly, Focal T2 hyperintense basal ganglia lesion... OMIM:607906
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hypertrichosis, Polymicrogyria, Abnormality of skin pigmentation, Cataract, Mi... OMIM:612379
Porphyria Variegata
Chronic kidney disease, Hypopigmentation of the skin, Increased urinary porphobilinogen, Elevated... ORPHA:79473
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Abnormal cornea morphology, Hypophosphatemia, Aplasia/Hypoplasia of the fovea,... ORPHA:2611
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Generalized hypopigmentation, Abnormal renal tubule morphology, Short st... ORPHA:2720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Nonprogressive cerebellar ataxia, Glutaric aciduria, Post... OMIM:610198
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Short stature, Aplasia/Hypoplasia of the cerebellum, Choreoa... ORPHA:2715
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Unilateral cryptorchidism, Male infertility, Abnormal spermatog... ORPHA:261529
Walker-Warburg Syndrome
Corneal opacity, Macrogyria, Microcephaly, Anophthalmia, Microcornea, Polymicrogyria, Abnormal co... ORPHA:899
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Hirsutism, Decreased circulating aldosterone level, Decreased... ORPHA:90791
Moebius Syndrome
Hypogonadotropic hypogonadism, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly,... OMIM:157900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of the endocrine system, Cerebral cortical atrophy, Decreased response to growth horm... ORPHA:268261
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Microcephaly, Elevated circulating creatine kinase concen... ORPHA:370959
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Flexion c... ORPHA:2712
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Seizure OMIM:602501
Fanconi Anemia, Complementation Group I
Decreased body weight, Decreased response to growth hormone stimulation test, Optic nerve hypopla... OMIM:609053
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasi... ORPHA:137902
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:618193
Tyrosinemia, Type Ii
Herpetiform corneal ulceration, Hypertyrosinemia OMIM:276600
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Microphthalmia, 2-3 toe syndactyly, Facia... OMIM:260660
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirsutism, Pituitary ... ORPHA:189427
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Failure to thrive, Abnorma... ORPHA:14
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Iris hypopigmentation, White ... ORPHA:352731
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Failure to thrive, Microcephaly, Abnormal CNS myelination, Hypoplasia of the corpus callosum ORPHA:477673
Leigh Syndrome With Leukodystrophy
Failure to thrive, Hypertrichosis, Leukodystrophy, Pigmentary retinopathy, Focal T2 hyperintense ... ORPHA:255241
Hyperphosphatasia-Intellectual Disability Syndrome
Shallow anterior chamber, Supernumerary nipple, Cerebral hypomyelination, Highly arched eyebrow, ... ORPHA:247262
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Hyperornithinemia, Aminoaciduria, Cataract, Abnormal hair morphology ORPHA:414
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Trisomy 13
Ectrodactyly, Anophthalmia, Postaxial hand polydactyly, Abnormal rib morphology, Iris coloboma, A... ORPHA:3378
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Anophthalmia, Polydactyly, Microphthalmia OMIM:613885
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Congenital hip dislocation, Keratoconus, Keratoglobus, Red hair, Decr... OMIM:229200
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Leukodystrophy, Polymicrogyria, Hyperintensity of cerebral white matter on MRI, Thin corpus callo... OMIM:619708
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcephaly, Microcornea, Astigmatism, Cataract, Microphtha... OMIM:152950
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Microcornea, Hypoplasi... ORPHA:1791
Dubowitz Syndrome
Sparse scalp hair, Microcephaly, Megalocornea, Hypocholesterolemia, Iris coloboma, Hypoplasia of ... OMIM:223370
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Galactosemia I
Failure to thrive, Increased level of galactitol in red blood cells, Aminoaciduria, Hypergonadotr... OMIM:230400
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Hypocalcemia, Focal white matter lesions, Developmental cataract, Hyp... ORPHA:557003
Nance-Horan Syndrome
Cataract, Short metacarpal, Microcornea, Microphthalmia ORPHA:627
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Hirsutism, Low anterior hairline, Cerebral cortical atrophy, Microcor... OMIM:615663
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Infertility, Decreased circulating T4 concentration, Short stature, H... ORPHA:98754
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Abnormal CNS myelination, Hypoplasia of the corpus callosum ORPHA:521390
Incontinentia Pigmenti
Nail dysplasia, Keratitis, Supernumerary ribs, Microphthalmia, Sparse hair, Supernumerary nipple,... OMIM:308300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, 2-3 toe syndactyly, Ectopia pupillae, Anophthalmia, Microcornea, 3-4 finger s... OMIM:615877
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Slow-growing hair, Abse... OMIM:129500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Posterior lenticonus, Microcornea, Microphthalmia ORPHA:231736
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Infertility, Decreased circulating T4 concentration, Short stature, H... ORPHA:98793
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal anterior chamber morphology, Limbal dermoid, Cortical dysplasia, Hypoplasia of... OMIM:613001
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Sparse hair, Long eyelashes, Clinodactyly, Microphthalmi... OMIM:617883
Baraitser-Winter Syndrome 1
Failure to thrive, Microcephaly, Iris coloboma, Lissencephaly, Microphthalmia, Pachygyria, Highly... OMIM:243310
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Xeroderma Pigmentosum, Complementation Group B
Basal ganglia calcification, Microcephaly, Pigmentary retinopathy, Freckling, Cataract, Microphth... OMIM:610651
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Infertility, Decreased circulating T4 concentration, Short stature, H... ORPHA:177904
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Infertility, Decreased circulating T4 concentration, Short stature, H... ORPHA:177901
Marbach-Rustad Progeroid Syndrome
Hyperintensity of cerebral white matter on MRI, Microcephaly, CNS hypomyelination OMIM:619322
Warburg Micro Syndrome 2
Low anterior hairline, Microcephaly, Microcornea, Hypoplasia of the corpus callosum, Polymicrogyr... OMIM:614225
Dpagt1-Cdg
Failure to thrive, Hypertrichosis, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the cor... ORPHA:86309
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus call... OMIM:614924
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Aminoaciduria OMIM:604273
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Microphthalmia OMIM:613456
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Martsolf Syndrome 1
Short toe, Low anterior hairline, Short metacarpal, Slender ulna, Finger joint hypermobility, Hyp... OMIM:212720
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Lissencephaly Syndrome, Norman-Roberts Type
Adducted thumb, Hypoplastic spleen, Rocker bottom foot ORPHA:89844
Gaba-Transaminase Deficiency
Leukodystrophy, Agenesis of corpus callosum OMIM:613163
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Sparse eyebrow, Alopecia, Congenital hip dislocation, Microcornea, Cataract, Microph... OMIM:268400
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Microcephaly, Macrocephaly, Cerebral atrophy OMIM:300337
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination, Secondary microcephaly, Optic disc hypoplasia, Hypoplasia of the corpus call... OMIM:619306
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Poor eye contact, Microcephaly, Hypoplasia of the corpus callosum, Abnormal CN... OMIM:613457
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Arrhinencephaly, Lissencephaly, Microphthalmia,... OMIM:218670
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Sparse eyebrow, Abnormal eyelash morphology, Cat... ORPHA:2399
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Short stature, Hypopigmentation of the skin, Horseshoe kidney, Hyperphosphaturia, H... OMIM:163200
Oculogastrointestinal Neurodevelopmental Syndrome