Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Neu-Laxova syndrome 1 (DOID:0080076)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
ichthyosis +     
microcephaly +     
serine deficiency +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p deletion syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Abruzzo-Erickson syndrome  
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Acquired Ichthyosis 
Acrocephalopolydactylous Dysplasia 
Acromegaloid Facial Appearance Syndrome 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acromesomelic Dysplasia, Demirhan Type  
acromicric dysplasia +   
Acropectoral Syndrome 
Acropectorovertebral Dysplasia 
Adams-Oliver syndrome +   
Adducted Thumbs Syndrome +   
ADULT syndrome  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Al-Raqad Syndrome  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Amish Lethal Microcephaly  
Angelman syndrome  
Anisomastia 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly +   
Arboleda-Tham syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia-Microcephaly-Cataract Syndrome 
Atelosteogenesis Type 3  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive congenital ichthyosis +   
autosomal recessive Robinow syndrome  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
bilateral perisylvian polymicrogyria +   
Birk-Landau-Perez Syndrome  
Bloch-Sulzberger syndrome +   
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Bowen-Conradi syndrome  
brachydactyly +   
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Type A2, With Microcephaly 
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Branchial Arch Syndrome X-Linked 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
Burnett Schwartz Berberian Syndrome  
Calabro Syndrome 
CAMFAK Syndrome 
Camptobrachydactyly 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly-Ichthyosis Syndrome 
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Cardioacrofacial Dysplasia +   
Cardiofacioneurodevelopmental Syndrome  
Carney complex +   
Cartwright Nelson Fryns Syndrome 
Cataract and Congenital Ichthyosis 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CATIFA Syndrome  
caudal regression syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
CHIME syndrome  
CHITAYAT SYNDROME  
CHOPS Syndrome  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
ciliopathy +   
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH syndrome +   
Cockayne syndrome +   
Coffin-Siris syndrome +   
Cohen syndrome  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Ichthyosis with Trichothiodystrophy +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital secretory sodium diarrhea 3  
Congenital Upper Extremity Deformities +   
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Deaf-Blind Disorders +   
deafness, dystonia, and cerebral hypomyelination  
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
Deal Barratt Dillon Syndrome 
DEEAH Syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Desmosterolosis  
Devriendt syndrome 
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis type 7  
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DK Phocomelia Syndrome 
Donohue syndrome  
Down syndrome +   
Dubowitz syndrome  
Dykes Markes Harper Syndrome 
ectodermal dysplasia +   
Ectrodactyly Cardiopathy Dysmorphism 
Ectrodactyly-Polydactyly 
Ectromelia +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
epidermolytic hyperkeratosis +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fetal akinesia deformation sequence syndrome +   
Fetal Akinesia Syndrome, X-Linked 
fetal encasement syndrome  
fibrochondrogenesis +   
Filippi syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Freire-Maia Odontotrichomelic Syndrome 
Fried Goldberg Mundel Syndrome 
Fryns Syndrome  
Galloway-Mowat syndrome +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
GRACILE syndrome  
Granddad Syndrome 
Grant Syndrome 
Grover's Disease 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
Hand and Foot Deformity with Flat Facies 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
HID Syndrome  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-Macdonald Syndrome 
Hyperphosphatasia with Mental Retardation +   
hypertelorism, microtia, facial clefting syndrome 
hypochondroplasia  
Hypoglossia-Hypodactylia 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypomelia Mullerian Duct Anomalies 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias-Mental Retardation Syndrome 
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Exfoliativa  
Ichthyosis Hystrix Gravior 
Ichthyosis Hystrix, Curth Macklin Type  
Ichthyosis Prematurity Syndrome  
Ichthyosis Tapered Fingers Midline Groove Up 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis, Split Hairs, and Amino Aciduria 
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IFAP Syndrome +   
IMAGe syndrome  
IMAGEI Syndrome  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Insulin-Like Growth Factor I, Resistance To  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Jagell Holmgren Hofer Syndrome 
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jorgenson Lenz Syndrome 
Joubert syndrome 1  
Juberg Hayward Syndrome  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kaplan Plauchu Fitch Syndrome 
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Keratoconus Posticus Circumscriptus with Associated Malformations 
keratosis pilaris atrophicans +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
Koone Rizzo Elias Syndrome 
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuster Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Lambotte Syndrome 
Lamellar Ichthyosis, Autosomal Dominant Form  
Larsen-Like Syndromes +   
Laryngeal Atresia, Encephalocele, and Limb Deformities 
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Lethal Faciocardiomelic Dysplasia 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Light Fixation Seizure Syndrome 
Limb-Mammary Syndrome  
linear nevus sebaceous syndrome +   
linear skin defects with multiple congenital anomalies 2  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lower Extremity Deformities, Congenital +   
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lung Agenesis +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Lynch Lee Murday syndrome 
MacDermot Winter Syndrome 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malformation of Arms 
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalodactyly  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Anadysplasia +   
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Epilepsy, and Diabetes Syndrome +   
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microdontia Hypodontia Short Stature 
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microspherophakia with Hernia 
Milner Khallouf Gibson Syndrome 
MIRAGE Syndrome  
Mirhosseini-Holmes-Walton Syndrome 
MLS syndrome +   
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
mucolipidosis II alpha/beta  
Mucopolysaccharidosis-Plus Syndrome  
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
Nabais Sa-de Vries Syndrome, Type 1  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Neonatal Progeroid Syndrome  
Nephrosis Deafness Urinary Tract Digital Malformation 
Netherton syndrome  
Neu-Laxova syndrome 1  
A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nievergelt Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Nisch syndrome  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome with multiple lentigines +   
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Ogden syndrome  
orofaciodigital syndrome +   
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteosclerosis with Ichthyosis and Fractures 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Partington Anderson Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Penttinen-Aula Syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
polydactyly +   
porencephaly +   
postaxial acrofacial dysostosis  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
primary microcephaly +   
Primrose Syndrome  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
PSPH deficiency  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Deficiency, X-Linked 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramos Arroyo Clark Syndrome 
rapadilino syndrome  
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Ritscher-Schinzel syndrome +   
Robinow syndrome +   
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Sammartino De Crecchio Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
Seow Najjar Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature and Locking Fingers 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Silver-Russell Syndrome 3  
Simpson-Golabi-Behmel syndrome type 2  
Sjogren-Larsson syndrome +   
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation +   
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Stormorken syndrome  
Stratton-Parker Syndrome 
Stromme syndrome  
SULEIMAN-EL-HATTAB SYNDROME  
syndactyly +   
syndromic microphthalmia 13  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Tamari Goodman Syndrome 
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
tetraamelia syndrome +   
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
Thakker Donnai Syndrome 
thanatophoric dysplasia +   
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
Thymic Aplasia with Fetal Death 
Thymic-Renal-Anal-Lung Dysplasia 
Tollner Horst Manzke Syndrome 
Total Anonychia with Microcephaly 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
Trichodental Syndrome 
Trichodysplasia-Xeroderma 
trichohepatoenteric syndrome +   
trichothiodystrophy +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome  
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay faciocardiomusculoskeletal syndrome  
VACTERL association +   
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
Webb-Dattani Syndrome  
Weill-Marchesani syndrome +   
Weill-Marchesani Syndrome 3  
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woods Leversha Rogers Syndrome 
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Wright Dyck Syndrome 
WT Limb Blood Syndrome 
X-linked ichthyosis +   
xeroderma of eyelid 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Yunis-Varon syndrome  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: NLS
Narrow Synonyms: NLS1
Primary IDs: MESH:C536405 ;   RDO:0001986
Alternate IDs: OMIM:256520
Definition Sources: https://www.omim.org/entry/256520 "DO"

paths to the root