Delayed speech and language development, and High forehead

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ptosis

SOURCES: OMIM ORPHANET UMLS MONDO

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P

(13q14.3).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Is also known as ;cdg syndrome type ip; cdg-ip; cdg1p; carbohydrate deficient glycoprotein syndrome type ip; congenital disorder of glycosylation type 1p; congenital disorder of glycosylation type ip

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

SOURCES: UMLS OMIM SCTID MONDO ORPHANET GARD

High match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

• Seizures
• Strabismus
• Muscular hypotonia
• Feeding difficulties
• Delayed speech and language development

SOURCES: ORPHANET

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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

SOURCES: UMLS DOID MONDO OMIM GARD

High match SOTOS SYNDROME 2; SOTOS2

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome;sotos syndrome 2

• Autosomal dominant inheritance
• Intellectual disability
• Generalized hypotonia
• Scoliosis
• Nystagmus

SOURCES: ORPHANET UMLS OMIM MONDO

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

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

SOURCES: ORPHANET DOID OMIM MONDO UMLS

High match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Nystagmus

SOURCES: OMIM ORPHANET

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

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

SOURCES: UMLS OMIM

High match NOONAN SYNDROME 6; NS6

• Intellectual disability
• Short stature
• Generalized hypotonia
• Pica
• Hearing impairment

SOURCES: MESH GARD MONDO DOID OMIM UMLS

High match CHROMOSOME 15q14 DELETION SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

CHROMOSOME 15q14 DELETION SYNDROME Is also known as ;del(15)(q14); monosomy 15q14

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

SOURCES: UMLS OMIM SCTID MONDO ORPHANET