Delayed speech and language development, and Ischemic stroke

High match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

• Autosomal recessive inheritance
• Global developmental delay
• Motor delay
• Cognitive impairment
• Delayed speech and language development

SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

Medium match WILLIAMS-BEUREN SYNDROME; WBS

Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.See also the distal chromosome 7q11.23 deletion syndrome (OMIM ), which occurs between the WBS region and the MAGI2 gene (OMIM ).

WILLIAMS-BEUREN SYNDROME; WBS Is also known as chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, williams syndrome;wms;ws;deletion 7q11.23; monosomy 7q11.23; williams-beuren syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: MESH ORPHANET UMLS DOID OMIM SCTID NCIT MONDO GARD

Medium match ISOVALERIC ACIDEMIA; IVA

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA; IVA Is also known as isovaleric acid coa dehydrogenase deficiency, ivd deficiency;isovaleric acid coa dehydrogenase deficiency

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Hepatomegaly
• Edema

SOURCES: SCTID NCIT OMIM MESH MONDO ICD10 ORPHANET GARD DOID UMLS

Medium match SNEDDON SYNDROME

Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014).Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).

SNEDDON SYNDROME Is also known as livedo reticularis and cerebrovascular accidents;ehrmann-sneddon syndrome; livedo racemosa-cerebrovascular accident syndrome; livedo reticularis-cerebrovascular accident syndrome

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Seizures
• Motor delay
• Muscle weakness

SOURCES: ORPHANET MESH MONDO GARD DOID EFO SCTID OMIM

Medium match PORENCEPHALY 1; POREN1

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

PORENCEPHALY 1; POREN1 Is also known as hemiplegia, infantile, with porencephaly porencephaly, type 1;t1p, porencephaly, type 1, autosomal dominant;adt1p;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus

SOURCES: ORPHANET UMLS MONDO OMIM

Medium match ADAMS-OLIVER SYNDROME 5; AOS5

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Short stature
• Motor delay

SOURCES: UMLS MONDO OMIM

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as propionyl-coa carboxylase deficiency, pcc deficiency, glycinemia, ketotic, hyperglycinemia with ketoacidosis and leukopenia, ketotic hyperglycinemia;ketotic hyperglycinemia; propionic aciduria; propionyl-coa carboxylase deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: GARD MESH NCIT MONDO SCTID ORPHANET ICD10 OMIM DOID

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency, methylmalonic aciduria, mut type

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: ORPHANET OMIM

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP Is also known as macrocephaly-capillary malformation;mcm, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita;mcmtc, megalencephaly-cutis marmorata telangiectatica congenita;mcap; mcm; mcmtc; macrocephaly-capillary malformation syndrome; macrocephaly-cutis marmorata telangiectatica congenita syndrome; megalencephaly-capillary malformation syndrome; megalencephaly-cutis marmorata telangiectatica congenita syndrome

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

SOURCES: MESH ORPHANET OMIM GARD SCTID MONDO

Medium match ABETAL34V AMYLOIDOSIS

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abeta amyloidosis, piedmont type; abetal34v-related amyloidosis; hchwa, piedmont type; hereditary cerebral hemorrhage with amyloidosis, piedmont type

• Intellectual disability
• Global developmental delay
• Coma
• Behavioral abnormality
• Dementia

SOURCES: ORPHANET