Intellectual disability, severe, and Abnormality of movement

Low match HSD10 DISEASE, ATYPICAL TYPE

HSD10 DISEASE, ATYPICAL TYPE Is also known as syndromic x-linked intellectual disability type 10|hsd10 deficiency, atypical type|x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

• Intellectual disability
• Behavioral abnormality
• Abnormality of movement

SOURCES: MESH ORPHANET MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development
• Intellectual disability, severe

SOURCES: OMIM MESH MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3

• Intellectual disability
• Seizures
• Global developmental delay
• Intellectual disability, severe
• Hyperactivity

SOURCES: MESH OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Spasticity

SOURCES: OMIM MENDELIAN

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape
• Cognitive impairment

SOURCES: OMIM MESH MENDELIAN

Low match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Hyperreflexia
• Intellectual disability, severe

SOURCES: OMIM MENDELIAN

Low match LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Nystagmus

SOURCES: OMIM MENDELIAN

Low match SPINOCEREBELLAR ATAXIA TYPE 21

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

• Intellectual disability
• Global developmental delay
• Ataxia
• Nystagmus
• Neoplasm

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

• Intellectual disability
• Global developmental delay
• Muscle weakness
• Flexion contracture
• Delayed speech and language development

SOURCES: ORPHANET OMIM MENDELIAN