Delayed speech and language development, and Fatigue

Medium match CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 Is also known as arginine:glycine amidinotransferase deficiency, agat deficiency, gatm deficiency, creatine deficiency syndrome due to agat deficiency;agat deficiency

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Failure to thrive

SOURCES: MONDO UMLS MESH ORPHANET GARD DOID SCTID OMIM

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Ataxia

SOURCES: MESH GARD MONDO OMIM ORPHANET NCIT UMLS

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

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

SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

Medium match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

• Short stature
• Hearing impairment
• Ataxia
• Failure to thrive
• Sensorineural hearing impairment

SOURCES: SCTID OMIM ORPHANET

Low match GLYCOGEN STORAGE DISEASE VI; GSD6

GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as gsd vi, hers disease, phosphorylase deficiency glycogen-storage disease of liver

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

SOURCES: OMIM

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as cbld defect; cobalamin d defect; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld; methylmalonic aciduria with homocystinuria, type cbld

• Intellectual disability
• Seizures
• Global developmental delay
• Failure to thrive
• Gait disturbance

SOURCES: SCTID UMLS ORPHANET

Low match CREATINE PHOSPHOKINASE, ELEVATED SERUM

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum, hyperckemia, idiopathic

• Autosomal dominant inheritance
• Failure to thrive
• Motor delay
• Milia
• Nevus

SOURCES: MONDO OMIM UMLS

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3

MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3 Is also known as muscular dystrophy, limb-girdle, type 2o;lgmd2o, muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related;lgmd2o

• Autosomal recessive inheritance
• Motor delay
• Muscle weakness
• Myopia
• Skeletal muscle atrophy

SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

Low match ATHYREOSIS

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

• Global developmental delay
• Short stature
• Growth delay
• Muscular hypotonia
• Muscle weakness

SOURCES: ORPHANET

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28 Is also known as ;coxpd28; combined oxidative phosphorylation defect type 28

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Pain

SOURCES: OMIM ORPHANET UMLS MONDO