Ataxia, and Colitis

Low match HERMANSKY-PUDLAK SYNDROME TYPE 7

HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

• Ataxia
• Nystagmus
• Muscle weakness
• Respiratory distress
• Reduced visual acuity

SOURCES: ORPHANET OMIM MENDELIAN

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match HIRSCHSPRUNG DISEASE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Microcephaly

SOURCES: ORPHANET OMIM MENDELIAN

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

• Seizures
• Global developmental delay
• Hearing impairment
• Ataxia
• Nystagmus

SOURCES: ORPHANET OMIM MENDELIAN

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

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

SOURCES: OMIM ORPHANET MENDELIAN

Low match BASAL CELL NEVUS SYNDROME; BCNS

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

• Intellectual disability
• Hearing impairment
• Microcephaly
• Scoliosis
• Ataxia

SOURCES: OMIM MENDELIAN

Low match HEREDITARY HYPEREKPLEXIA

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

• Intellectual disability
• Seizures
• Ataxia
• Spasticity
• Hyperreflexia

SOURCES: OMIM ORPHANET MENDELIAN

Low match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

• Seizures
• Ataxia
• Neoplasm
• Pain
• Cataract

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

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

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MENDELIAN