Delayed speech and language development, and Ventriculomegaly

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 Is also known as ;

• Autosomal recessive inheritance
• Intellectual disability
• Generalized hypotonia
• Microcephaly
• Failure to thrive

SOURCES: UMLS OMIM MONDO ORPHANET

Low match PYRIDOXINE-DEPENDENT EPILEPSY

Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency; vitamin b6-dependent seizures

• Intellectual disability
• Seizures
• Global developmental delay
• Strabismus
• Muscular hypotonia

SOURCES: ORPHANET

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

• Intellectual disability
• Seizures
• Global developmental delay
• Motor delay
• Abnormal facial shape

SOURCES: UMLS OMIM DOID MONDO

Low 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

Low match MENTAL RETARDATION, X-LINKED 103; MRX103

• Intellectual disability
• Seizures
• Global developmental delay
• Cryptorchidism
• Anteverted nares

SOURCES: OMIM UMLS MONDO

Low match MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

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

SOURCES: OMIM UMLS MONDO

Low 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

Low match MENTAL RETARDATION, X-LINKED 12; MRX12

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

MENTAL RETARDATION, X-LINKED 12; MRX12 Is also known as mental retardation, x-linked 35;mrx35;

• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET MONDO UMLS OMIM

Low 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

Low 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