ZNF335 - zinc finger protein 335 Gene

MCPH10

Microcephalic Primordial Dwarfism Due To Znf335 Deficiency

Primary Autosomal Recessive Microcephaly 10

Microcephalic Primordial Dwarfism, Walsh Type

Microcephaly, Type 10, Primary, Autosomal Recessive

ACY1D

Deficiency Of The Aminoacylase-1 Enzyme

Acy1 Deficiency

Neurological Conditions Associated With Aminoacylase 1 Deficiency

N-Acyl-L-Amino Acid Amidohydrolase Deficiency

Aminoacylase-1 Deficiency

Encephalopathy Associated With Aminoacylase 1 Deficiency

Microcephaly 15, Primary, Autosomal Recessive

NEDMISBA

Mcph15

Primary Autosomal Recessive Microcephaly 15

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities

MCPH16

Primary Autosomal Recessive Microcephaly 16

MCPH13

Primary Autosomal Recessive Microcephaly 13

Microcephaly, Type 13, Primary, Autosomal Recessive

MTDPS13

Fbxl4 Deficiency

Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies

Fbxl4-Related Early-Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type

Bxl4-Related Early-Onset Mitochondrial Encephalopathy

Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13

Fbxl4-Related Early Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome, Type 13

MCPH3

Primary Autosomal Recessive Microcephaly 3

Microcephaly, Primary Autosomal Recessive, 3

MCPH12

Primary Autosomal Recessive Microcephaly 12

Microcephaly, Type 12, Primary, Autosomal Recessive

MCPH11

Primary Autosomal Recessive Microcephaly 11

Microcephaly, Type 11, Primary, Autosomal Recessive

MCPH19

Primary Autosomal Recessive Microcephaly 19

Microcephaly, Type 19, Primary, Autosomal Recessive

MCPH18

Primary Autosomal Dominant Microcephaly 18

MCPH14

Primary Autosomal Recessive Microcephaly 14

Microcephaly, Type 14, Primary, Autosomal Recessive

Enteropeptidase Deficiency

Congenital Enterokinase Deficiency

Congenital Enteropathy Due To Enteropeptidase Deficiency

Deficiency Of Enteropeptidase

ENTKD

MCPH17

Primary Autosomal Recessive Microcephaly 17

Melnick-Fraser Syndrome

BOR1

Branchiootorenal Dysplasia

Branchiootorenal Syndrome 1, With Or Without Cataracts

Bor Syndrome 1

Branchiootorenal Dysplasia 1

Branchio-Oto-Renal Dysplasia 1

Branchio-Oto-Renal Syndrome Type 1

Branchiootorenal Syndrome, With/Without Cataract, Type 1

Branchio-Oto-Renal Syndrome

MCPH9

Primary Autosomal Recessive Microcephaly 9

Microcephaly, Type 9, Primary, Autosomal Recessive

MCPH5

Primary Autosomal Recessive Microcephaly 5

Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern

Microcephaly, Primary Autosomal Recessive, 5

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism