Delayed speech and language development, and Intellectual disability, profound

High match SECKEL SYNDROME 6; SCKL6

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

SOURCES: UMLS DOID OMIM MONDO

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development

SOURCES: MONDO UMLS DOID OMIM

High match CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2

Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003).For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Is also known as guanidinoacetate methyltransferase deficiency, gamt deficiency, creatine deficiency syndrome due to gamt deficiency;gamt deficiency

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

SOURCES: ORPHANET MONDO GARD DOID MESH SCTID OMIM UMLS

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13;gpibd13

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

SOURCES: OMIM UMLS MONDO

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 Is also known as hypomyelination, global cerebral, aspartate-glutamate carrier 1 deficiency, agc1 deficiency;agc1 deficiency; mitochondrial aspartate-glutamate carrier 1 deficiency

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

SOURCES: UMLS ORPHANET MONDO MESH OMIM

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

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

SOURCES: MESH UMLS GARD MONDO OMIM

High match LISSENCEPHALY 3; LIS3

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

SOURCES: ORPHANET MONDO MESH NCIT OMIM

High match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as x-linked non-specific intellectual disability

• Intellectual disability

SOURCES: SCTID ORPHANET UMLS

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

• Autosomal recessive inheritance
• Intellectual disability

SOURCES: MONDO OMIM UMLS

High match GLUTATHIONURIA

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GLUTATHIONURIA Is also known as gamma-glutamyltranspeptidase deficiency, ggt deficiency, gtg deficiency, gamma-glutamyltransferase deficiency;glutathionuria

• Autosomal recessive inheritance
• Intellectual disability
• Abnormality of metabolism/homeostasis

SOURCES: UMLS GARD ORPHANET MESH MONDO SCTID OMIM