Intellectual disability, and Scoliosis

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Ataxia

SOURCES: OMIM MENDELIAN

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Scoliosis
• Hypertelorism

SOURCES: OMIM MESH MENDELIAN

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Ataxia

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Hyperreflexia

SOURCES: OMIM MENDELIAN

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Scoliosis

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Scoliosis
• High palate
• Macrocephaly
• Frontal bossing

SOURCES: OMIM MESH MENDELIAN

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

• Intellectual disability
• Seizures
• Scoliosis
• Fatigue
• Dystonia

SOURCES: ORPHANET MENDELIAN

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

SOURCES: OMIM MENDELIAN

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Growth delay

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Short stature
• Microcephaly
• Scoliosis
• Intellectual disability, severe

SOURCES: OMIM MENDELIAN