PUS3 - pseudouridine synthase 3 Gene

Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome

NEDMIGS

Mental Retardation, Autosomal Recessive 55, Formerly

Mrt55, Formerly

Mrt55

Hydrolethalus Syndrome

HLS1

Salonen-Herva-Norio Syndrome

Hls

Hydrolethalus

Hydrolethalus Syndrome, Type 1

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Mitochondrial Myopathy And Sideroblastic Anemia

MLASA1

Mlasa

Myopathy, Lactic Acidosis And Sideroblastic Anemia

Myopathy With Lactic Acidosis And Sideroblastic Anemia

Sideroblastic Anemia And Mitochondrial Myopathy

Myopathy With Lactic Acidosis And Sideroblastic Anemia 1

Periapical Abscess

Apical Abscess

Suppurative Apical Periodontitis

Dentoalveolar Abscess

Dental Abscess With Sinus

Dentoalveolar Abscess With Sinus

Dental Sinus

Periapical Abscess Fistula

Apical Tooth Abscess

Apex Abscess

Dental Abscess Nos

Infection Of Tooth Nos

Abscess Of Tooth

Dental Infection Nos

IMD31B

Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Autosomal Recessive Stat1 Deficiency

Predisposition To Severe Viral Infection Due To Stat1 Deficiency

Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency

Stat1 Deficiency, Autosomal Recessive

Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections

Stat1 Deficiency

Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections

Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency

Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy