FAM50A - family with sequence similarity 50 member A Gene

X-Linked Intellectual Disability, Armfield Type

Armfield X-Linked Mental Retardation Syndrome

Mental Retardation Syndrome, X-Linked, Armfield Type

Mrxsa

Syndromic X-Linked Mental Retardation Armfield Type

Armfield X-Linked Mental Retardation Syndrome

MRXSA

Kat6a Syndrome

Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

ARTHS

Mrd32

Mental Retardation, Autosomal Dominant 32, Formerly

Mrd32, Formerly

Autosomal Dominant Mental Retardation 32

Autosomal Dominant Non-Syndromic Intellectual Disability 32

Arboleda-Tham

DFNB109

Autosomal Recessive Nonsyndromic Deafness 109

Autosomal Recessive Deafness 109

Deafness, Autosomal Recessive, 109

DYT16

Dyt-Prkra

Dystonia-16

Young-Onset Dystonia-

Early-Onset Dystonia Parkinsonism

Dystonia, Type 16

DEE54

Epileptic Encephalopathy, Early Infantile, 54

Eiee54

Developmental And Epileptic Encephalopathy, 54

Early Infantile Epileptic Encephalopathy 54

Encephalopathy, Epileptic, Early Infantile, Type 54

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

5-Oxoprolinuria

Pyroglutamic Aciduria

Pyroglutamicaciduria

Glutathione Synthetase Deficiency With 5-Oxoprolinuria

GSSD

Oxoprolinase Deficiency

5-Oxoprolinemia

Deficiency Of Glutathione Synthase

Deficiency Of Glutathione Synthetase

Pyroglutamic Acidemia

GSS DEFICIENCY

Gluthathione Synthetase Deficiency

5-Oxoprolinase Deficiency

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type

Mrxs11

Shashi X-Linked Mental Retardation Syndrome

Smrxs

Syndromic X-Linked Intellectual Disability Type 11

X-Linked Mental Retardation Shashi Type

Mental Retardation, X-Linked, Syndromic 11

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

X-Linked Syndromic Intellectual Disability

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1