Hydrocephalus, and Generalized seizures

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 1Q44 MICRODELETION SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44); monosomy 1q44

• Global developmental delay
• Short stature
• Microcephaly
• Scoliosis
• Hypertelorism

SOURCES: ORPHANET

Low match ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN

gene; 4p16.3).

ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN Is also known as saddan dysplasia;saddan

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

SOURCES: UMLS OMIM SCTID ORPHANET

Low match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as globoid cell leukodystrophy;gld;gcl, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency, galactocerebrosidase deficiency, galc deficiency

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

SOURCES: ICD10 SCTID ORPHANET OMIM

Low match MUSCLE-EYE-BRAIN DISEASE

A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects.

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome; muscle-eye-brain syndrome; santavuori congenital muscular dystrophy

• Seizures
• Strabismus
• Muscular hypotonia
• Cataract
• Cognitive impairment

SOURCES: UMLS ORPHANET

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome;warburton-anyane-yeboa syndrome

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

SOURCES: MONDO DOID ORPHANET OMIM SCTID UMLS

Low match COFFIN-LOWRY SYNDROME; CLS

Coffin-Lowry syndrome is a rare form of X-linked mental retardation characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007).Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (OMIM ), ICF syndrome (OMIM ), Rett syndrome (OMIM ), Rubinstein-Taybi syndrome (OMIM ), and Coffin-Lowry syndrome.Marques Pereira et al. (2010) provided a review of Coffin-Lowry syndrome.Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19 ), a milder disorder without skeletal anomalies.

COFFIN-LOWRY SYNDROME; CLS Is also known as ;cls

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

SOURCES: NCIT SCTID OMIM UMLS MESH MONDO ORPHANET

Low match HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Macrocephaly
• Hydrocephalus

SOURCES: UMLS OMIM MONDO

Low match HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also autosomal recessive HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p.An X-linked form (OMIM ) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 Is also known as hydrocephaly, ventriculomegaly

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Ventriculomegaly
• Intellectual disability, severe

SOURCES: OMIM MONDO GARD UMLS

Low match PAPILLOMA OF CHOROID PLEXUS

Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp; choroid plexus papilloma

• Seizures
• Cognitive impairment
• Neoplasm
• Visual impairment
• Hydrocephalus

SOURCES: ORPHANET SCTID