-
| Ventral shortening of foreskin
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| Delayed social development
-
| Abnormal social behavior
-
| Chronic fatigue
-
| Macule
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| Abnormal protein N-linked glycosylation
-
| Hand clenching
-
| Hyperextensibility of the finger joints
-
| Abnormal protein glycosylation
-
| Tapered finger
-
| Adducted thumb
-
| Oligodactyly (hands)
-
| Pulmonary capillary hemangiomatosis
-
| Hypertonic dehydration
-
| Anteroposteriorly shortened larynx
-
| Breathing dysregulation
-
| Laryngeal web
-
| Progressive inspiratory stridor
-
| Decreased pulmonary function
-
| Megaloblastic bone marrow
-
| Impaired gluconeogenesis
-
| Fetal akinesia sequence
-
| Recurrent hypoglycemia
-
| Abnormality of the fascia
-
| Fasciitis
-
| Episcleritis
-
| Tibiofibular diastasis
-
| Scleritis
-
| Inflammatory abnormality of the eye
-
| Abnormality of calcium-phosphate metabolism
-
| Wind-swept deformity of the knees
-
| Abnormality of the supraorbital ridges
-
| Periorbital edema
-
| Hypoplasia of the tooth germ
-
| Progressive calcification of costochondral cartilage
-
| Flared, irregular rib ends
-
| Abnormality of the calf
-
| Premature loss of permanent teeth
-
| Elbow flexion contracture
-
| Precocious costochondral ossification
-
| Irregular chondrocostal junctions
-
| Transient ischemic attack
-
| Midclavicular hypoplasia
-
| Hydranencephaly
-
| Shovel-shaped maxillary central incisors
-
| Resting tremor
-
| Anencephaly
-
| Vertigo
-
| Activating thyroid-stimulating hormone receptor (TSHR) defect
-
| Abnormal subcutaneous fat tissue distribution
-
| Congenital symmetrical palmoplantar keratosis
-
| Hypohidrosis/hyperhidrosis
-
| Plantar hyperkeratosis
-
| Central nervous system degeneration
-
| Abnormality of the radioulnar joints
-
| Tetraamelia
-
| Dorsal column degeneration
-
| Cavitation of the basal ganglia
-
| Morning myoclonic jerks
-
| Loss of Purkinje cells in the cerebellar vermis
-
| Motor axonal neuropathy
-
| Delayed CNS myelination
-
| Excessive daytime sleepiness
-
| Phonophobia
-
| Neurodegeneration
-
| Cerebral edema
-
| Apraxia
-
| Intellectual disability, profound
-
| Neurofibrillary tangles
-
| Complete duplication of the distal phalanx of the 2nd finger
-
| Coxa magna
-
| Square pelvis
-
| Hip contracture
-
| Abnormality of the hip bone
-
| Visceromegaly
-
| Abdominal distention
-
| Constricted iliac wings
-
| Pelvic exostoses
-
| Narrow pelvis
-
| Hypoplastic acetabulae
-
| Partial duplication of the distal phalanx of the 2nd finger
-
| Grammar-specific speech disorder
-
| Necrotizing encephalopathy
-
| Abnormally shaped carpal bones
-
| Periventricular leukomalacia
-
| Episodic upper airway obstruction
-
| Decreased muscle glycogen content
-
| Increased carotid artery intimal medial thickness
-
| J wave
-
| Autosomal dominant inheritance with maternal imprinting
-
| Autosomal dominant inheritance with paternal imprinting
-
| Sleep-wake cycle disturbance
-
| Dysmyelinating leukodystrophy
-
| Dysplasia of second lumbar vertebra
-
| Morphological abnormality of the middle ear
-
| Hypertrophic auricular cartilage
-
| Anterior scalloping of vertebral bodies
-
| Increased anterior vertebral height
-
| Irregularity of vertebral bodies
-
| Biconcave vertebral bodies
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