Macrocephaly, and Generalized seizures

Medium match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly

SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

Low match N-ACETYLASPARTATE DEFICIENCY; NACED

N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency, hypoacetylaspartia

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: MONDO OMIM UMLS

Low match LISSENCEPHALY 5; LIS5

Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (summary by Radmanesh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY 5; LIS5 Is also known as ;cobblestone lissencephaly without muscular or eye involvement; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement

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

SOURCES: OMIM UMLS ORPHANET MONDO

Low match SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome

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

SOURCES: MONDO OMIM ORPHANET UMLS

Low match KENNY-CAFFEY SYNDROME, TYPE 1; KCS1

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 Is also known as kcs, kenny-caffey syndrome, autosomal recessive;

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Microcephaly
• Hypertelorism

SOURCES: MESH OMIM MONDO NCIT GARD UMLS ORPHANET

Low match CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012).

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Is also known as ;

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

SOURCES: MONDO DOID UMLS OMIM ORPHANET

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

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

SOURCES: MONDO UMLS OMIM

Low match SECKEL SYNDROME 6; SCKL6

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

SOURCES: UMLS DOID OMIM MONDO

Low match CANAVAN DISEASE

CANAVAN DISEASE Is also known as canavan-van bogaert-bertrand disease, spongy degeneration of central nervous system, aspartoacylase deficiency, aspa deficiency, asp deficiency, aminoacylase 2 deficiency, acy2 deficiency

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

SOURCES: UMLS ORPHANET SCTID OMIM

Low match D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1

D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. Genetic Heterogeneity of D-2-Hydroxyglutaric AciduriaD-2-hydroxyglutaric aciduria-2 (D2HGA2 ) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2 ) on chromosome 15q26.

D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 Is also known as d2hga;d-2-hga; d-2-hydroxyglutaric acidemia

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

SOURCES: OMIM ORPHANET MONDO UMLS