Delayed speech and language development, and Abnormality of the dentition

Low match CRANIOSYNOSTOSIS 7; CRS7

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic

• Autosomal dominant inheritance
• Global developmental delay
• Delayed speech and language development
• Craniosynostosis
• Neurodevelopmental delay

SOURCES: MONDO UMLS OMIM

Low match SECKEL SYNDROME 6; SCKL6

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

SOURCES: UMLS DOID OMIM MONDO

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment

SOURCES: MONDO OMIM UMLS

Low match SHAHEEN SYNDROME; SHNS

Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).

SHAHEEN SYNDROME; SHNS Is also known as ;shaheen syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Delayed speech and language development
• Fever

SOURCES: ORPHANET OMIM MONDO UMLS

Low match MENTAL RETARDATION, X-LINKED 19; MRX19

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
• Pica
• Scoliosis

SOURCES: UMLS MONDO MESH OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25

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

SOURCES: OMIM MONDO GARD UMLS

Low match BARDET-BIEDL SYNDROME 21; BBS21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Delayed speech and language development
• Myopia
• Blindness
• Abnormality of the dentition

SOURCES: UMLS MONDO OMIM

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Hypertelorism
• Motor delay

SOURCES: GARD MONDO OMIM UMLS DOID

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS MONDO OMIM ORPHANET DOID

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

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

SOURCES: UMLS MONDO DOID OMIM