Flexion contracture, and Generalized seizures

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

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

SOURCES: UMLS OMIM MONDO

Low match ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS

(1p21).

ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS Is also known as ;slc35a3-cdg

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

SOURCES: ORPHANET OMIM MONDO UMLS

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

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

SOURCES: OMIM DOID UMLS MONDO

Low match POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC Is also known as ;pharc syndrome; peripheral neuropathy, fiskerstrand type

• Autosomal recessive inheritance
• Seizures
• Hearing impairment
• Ataxia
• Nystagmus

SOURCES: ORPHANET OMIM MONDO UMLS MESH DOID

Low match MICROHYDRANENCEPHALY; MHAC

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

MICROHYDRANENCEPHALY; MHAC Is also known as hydranencephaly and microcephaly;mhac

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Microcephaly
• Motor delay

SOURCES: UMLS OMIM ORPHANET MESH MONDO GARD

Low match ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

This severe autosomal recessive disorder is characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR Is also known as ;congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

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

SOURCES: UMLS ORPHANET MONDO OMIM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

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

SOURCES: OMIM UMLS MONDO

Low match PERMANENT NEONATAL DIABETES MELLITUS

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy; pndm

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Ataxia
• Failure to thrive

SOURCES: UMLS ORPHANET SCTID

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U Is also known as cdg iu;cdgiu;cdg syndrome type iu; cdg-iu; cdg1u; cmd with intellectual disability and severe epilepsy; carbohydrate deficient glycoprotein syndrome type iu; congenital disorder of glycosylation type 1u; congenital disorder of glycosylation type iu; dpm2-cdg

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

SOURCES: OMIM GARD ORPHANET MONDO UMLS

Low match GAUCHER DISEASE, TYPE II

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gd ii, gaucher disease, acute neuronopathic type;acute neuronopathic gaucher disease; infantile cerebral gaucher disease

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Strabismus
• Failure to thrive

SOURCES: UMLS GARD OMIM MONDO SCTID ORPHANET DOID