Delayed speech and language development, and Paresthesia

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

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

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

SOURCES: UMLS OMIM MONDO GARD

Medium match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Muscle weakness
• Peripheral neuropathy

SOURCES: DOID MONDO OMIM UMLS

Medium match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o, charcot-marie-tooth disease, axonal, autosomal dominant, type 2o;cmt2o

• Autosomal dominant inheritance
• Motor delay
• Peripheral neuropathy
• Pain
• Gait disturbance

SOURCES: MONDO GARD ORPHANET UMLS DOID OMIM

Medium match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J

Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J Is also known as charcot-marie-tooth disease, autosomal recessive, type 4j;cmt4j

• Autosomal recessive inheritance
• Global developmental delay
• Motor delay
• Muscle weakness
• Nevus

SOURCES: UMLS NCIT ORPHANET MESH OMIM MONDO GARD DOID SCTID

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy;autosomal recessive spinocerebellar ataxia type 21; scar21

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Ataxia
• Motor delay

SOURCES: ORPHANET UMLS DOID MONDO OMIM

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as fhm, mhp1

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

SOURCES: MONDO OMIM GARD NCIT UMLS

Medium match GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2

GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia (Weber et al., 2008). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT1 deficiency syndrome-1 (OMIM ) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 Is also known as paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia, ped with or without epilepsy and/or hemolytic anemia, paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia, dystonia 18;dyt18;dyt18; dystonia 18; ped

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

SOURCES: ORPHANET MESH OMIM GARD DOID UMLS SCTID MONDO

Medium match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia;hmsn ia, hmsn1a, charcot-marie-tooth neuropathy, type 1a, charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a;cmt1a; microduplication 17p12

• Autosomal dominant inheritance
• Global developmental delay
• Pica
• Hearing impairment
• Motor delay

SOURCES: UMLS NCIT SCTID ORPHANET DOID OMIM GARD MONDO

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 Is also known as ;coxpd26

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

SOURCES: ORPHANET UMLS OMIM EFO MONDO