Delayed speech and language development, and Cerebellar vermis hypoplasia

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ventriculomegaly

SOURCES: UMLS OMIM MONDO DOID

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Is also known as ;autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; autosomal recessive spinocerebellar ataxia type 13; scar13

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

SOURCES: MONDO OMIM UMLS ORPHANET DOID

Medium match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: MONDO UMLS ORPHANET OMIM

Medium match CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND

Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012).

CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND Is also known as ;congenital cataract-deafness-severe developmental delay syndrome; lethal neurodegenerative disorder due to copper transport defect

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: UMLS MONDO OMIM ORPHANET

Medium match CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Is also known as ;

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Motor delay

SOURCES: GARD OMIM ORPHANET UMLS MESH MONDO

Medium match LISSENCEPHALY 3; LIS3

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

SOURCES: ORPHANET MONDO MESH NCIT OMIM

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 Is also known as ;scar17; spinocerebellar ataxia autosomal recessive type 17

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

SOURCES: DOID UMLS ORPHANET MONDO OMIM

Medium match ATAXIA-TELANGIECTASIA-LIKE DISORDER

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

• Short stature
• Generalized hypotonia
• Ataxia
• Delayed speech and language development
• Dysarthria

SOURCES: UMLS ORPHANET

Medium 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

Medium match KOHLSCHUTTER-TONZ SYNDROME; KTZS

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012).

KOHLSCHUTTER-TONZ SYNDROME; KTZS Is also known as epilepsy and yellow teeth, epilepsy, dementia, and amelogenesis imperfecta, kohlschutter syndrome;epilepsy-dementia-amelogenesis imperfecta syndrome; kohlschutter-tonz syndrome

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

SOURCES: MESH OMIM GARD SCTID MONDO ORPHANET UMLS