Delayed speech and language development, and Narrow forehead

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

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

SOURCES: UMLS MONDO OMIM ORPHANET

High match MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Short stature
• Hearing impairment

SOURCES: OMIM MONDO UMLS MESH

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

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

SOURCES: OMIM

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 Is also known as ;epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Visual impairment
• Wide nasal bridge

SOURCES: OMIM ORPHANET UMLS MONDO

High match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA Is also known as birk-flusser syndrome;

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

SOURCES: ORPHANET MONDO UMLS OMIM

High match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS OMIM DOID MONDO

High match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

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

SOURCES: MONDO OMIM DOID UMLS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Generalized hypotonia
• Microcephaly

SOURCES: UMLS ORPHANET OMIM

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Is also known as encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;fatal infantile encephalopathy with mitochondrial respiratory chain defects; pch6

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET SCTID MESH GARD DOID UMLS MONDO OMIM

High match SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51

Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011).

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 Is also known as cerebral palsy, spastic quadriplegic, 4, formerly;cpsq4, formerly

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

SOURCES: UMLS MONDO OMIM DOID