| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
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| HP:0000414 | Bulbous nose | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000490 | Deep set eyes | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002263 | Exaggerated cupid s bow upper lip | |
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| HP:0002376 | Developmental regression | |
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| HP:0002465 | Poor speech | |
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| HP:0002518 | Periventricular white matter changes | |
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| HP:0002553 | Arched eyebrows | |
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| HP:0003577 | Onset at birth | |
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| HP:0003828 | Variable expressivity | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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| HP:0006989 | Dysplastic corpus callosum | |
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| HP:0010804 | Tented upper lip vermilion | "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] |
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| HP:0011471 | Gastrostomy tube feeding in infancy | "Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
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| HP:0012444 | Brain atrophy | "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0012510 | Extra-axial cerebrospinal fluid accumulation | "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, pmid:22327705, pmid:23838695] |
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| HP:0012697 | Small basal ganglia | "Decreased size of the basal ganglia." [HPO:probinson] |
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| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] |
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| HP:0012736 | Profound global developmental delay | "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0100704 | Cortical visual impairment | "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] |
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